Arnold Munnich

Q: What Schools Are Affiliated With Arnold Munnich

Arnold Munnich is affiliated with the following schools: Université Paris Cité, University College London, Hebrew University of Jerusalem, University of Reunion Island

Arnold Munnich's AcademicInfluence.com Rankings

Arnold Munnich

Philosophy

#3648

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#5859

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#1301

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#2016

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Arnold Munnich

Biology

#4605

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#6846

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Molecular Biology

#364

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#371

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Genetics

#385

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#448

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biology Degrees

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Arnold Munnich's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Identification and characterization of a spinal muscular atrophy-determining gene (1995) (3385)
Lamin A Truncation in Hutchinson-Gilford Progeria (2003) (1323)
Biochemical and molecular investigations in respiratory chain deficiencies. (1994) (1201)
Defective myosin VIIA gene responsible for Usher syndrome type IB (1995) (1084)
Hirschsprung disease, associated syndromes and genetics: a review (2001) (1044)
Correlation between severity and SMN protein level in spinal muscular atrophy (1997) (1006)
Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia (1997) (968)
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia (1994) (865)
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome (2003) (782)
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling (2001) (781)
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. (2011) (756)
Mutations of the RET proto-oncogene in Hirschsprung's disease (1994) (737)
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency (1995) (684)
Mutations of the TWIST gene in the Saethre-Chotzene syndrome (1997) (636)
Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti (2000) (531)
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion (2007) (515)
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. (2004) (501)
Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis (1996) (441)
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) (1996) (438)
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy (2012) (412)
Selective iron chelation in Friedreich ataxia: biologic and clinical implications. (2007) (380)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence (2009) (371)
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. (2004) (365)
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. (2009) (354)
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) (2005) (349)
miR-122, a paradigm for the role of microRNAs in the liver. (2008) (348)
Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis (2004) (347)
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. (2000) (347)
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency (2000) (346)
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study (1999) (338)
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) (1998) (337)
X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus (1994) (330)
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. (1995) (326)
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders (2006) (315)
A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency (2003) (312)
Mitochondrial double-stranded RNA triggers antiviral signalling in humans (2018) (307)
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. (2000) (302)
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure (2001) (297)
Mutant WD-repeat protein in triple-A syndrome (2000) (287)
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. (2000) (282)
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. (2007) (274)
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. (2008) (272)
The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration (1998) (272)
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases (2011) (272)
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. (2002) (269)
Segregation at three loci explains familial and population risk in Hirschsprung disease (2002) (265)
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. (2007) (265)
Mutation in myosin heavy chain 6 causes atrial septal defect (2005) (265)
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome (2003) (264)
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes (2010) (261)
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. (2004) (257)
Leber congenital amaurosis. (1999) (251)
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (2001) (247)
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease (2009) (247)
Structure and organization of the human survival motor neurone (SMN) gene. (1996) (246)
MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME (1989) (245)
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. (2007) (240)
Nuclear Outsourcing of RNA Interference Components to Human Mitochondria (2011) (239)
Clinical spectrum and diagnosis of mitochondrial disorders. (2001) (237)
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. (2005) (234)
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. (2007) (234)
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia (2002) (231)
Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans (2011) (227)
A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients (1995) (226)
CHARGE syndrome: report of 47 cases and review. (1998) (225)
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme (2002) (223)
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. (1995) (223)
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) (2010) (218)
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype (2007) (216)
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes (2011) (216)
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. (1998) (215)
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease (1996) (215)
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development (2005) (212)
Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB as Novel Risk Loci for Systemic Sclerosis (2011) (210)
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis (1999) (208)
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. (2009) (204)
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases (2001) (203)
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. (1996) (201)
A gene for hereditary multiple exostoses maps to chromosome 19p. (1994) (200)
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (2011) (198)
Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation (2002) (196)
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1 (1995) (196)
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. (2011) (195)
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation (2008) (193)
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia. (2001) (188)
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis (2007) (187)
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome (2004) (186)
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. (2004) (183)
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. (2007) (183)
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10 (1993) (183)
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. (1995) (183)
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 (1993) (178)
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. (2001) (177)
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) (2000) (176)
Genotype-phenotype correlation in hereditary multiple exostoses (2001) (175)
Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification (1998) (174)
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. (1998) (172)
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. (1992) (170)
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies (1998) (169)
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (2001) (169)
Identification of mutations in CUL7 in 3-M syndrome (2005) (169)
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy (2003) (169)
FGFR2 mutations in Pfeiffer syndrome (1995) (168)
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion (2007) (166)
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. (1992) (163)
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits. (2002) (162)
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. (2004) (161)
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. (2007) (161)
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. (2012) (160)
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). (1996) (159)
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development (2011) (159)
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (2000) (158)
The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. (1998) (156)
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q (1993) (156)
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. (2003) (155)
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis (2001) (155)
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). (1993) (154)
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (2001) (154)
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. (1999) (152)
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA. (2001) (151)
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. (2005) (151)
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. (2008) (151)
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. (2012) (151)
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. (2004) (150)
Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications. (2008) (149)
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. (1994) (148)
Dependence of hepatocyte‐specific gene expression on cell‐cell interactions in primary culture. (1985) (148)
Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components. (2008) (147)
Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria (2009) (143)
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome (2000) (143)
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy. (1998) (143)
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. (1996) (142)
Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia* (1998) (141)
Incomplete penetrance and expressivity skewing in hereditary multiple exostoses (1997) (139)
Polyalanine expansions in human. (2004) (139)
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency (2003) (139)
Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial (2004) (138)
Pierre Robin sequence: a series of 117 consecutive cases. (2001) (138)
Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome (2003) (137)
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. (2002) (137)
Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome (2009) (135)
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy (2011) (135)
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome (2011) (135)
TCTN3 mutations cause Mohr-Majewski syndrome. (2012) (134)
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. (2005) (131)
Germline deletion of the miR-17 ~ 92 cluster causes skeletal and growth defects in humans (2011) (131)
High incidence of SHOX anomalies in individuals with short stature (2006) (130)
Reference charts for respiratory chain activities in human tissues. (1994) (130)
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis Published, JLR Papers in Press, April 1, 2005. DOI 10.1194/jlr.M500056-JLR200 (2005) (129)
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. (2010) (128)
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis (2005) (127)
Spectrum of NSD1 mutations in Sotos and Weaver syndromes (2003) (127)
Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. (1997) (126)
Clinical presentation of mitochondrial disorders in childhood (1996) (125)
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. (1997) (124)
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. (1999) (123)
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy (2012) (123)
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling (2007) (123)
A gene for achondroplasia–hypochondroplasia maps to chromosome 4p (1994) (120)
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood (2010) (120)
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. (2005) (119)
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. (2014) (119)
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. (2004) (119)
Antenatal manifestations of mitochondrial respiratory chain deficiency. (2003) (119)
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency (2003) (118)
Spectrum of retGC1 mutations in Leber's congenital amaurosis (2000) (118)
Mutations of the RET-GDNF signaling pathway in Ondine's curse. (1998) (118)
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation. (2008) (117)
Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. (1998) (116)
Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France (2010) (116)
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. (2012) (115)
The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states (1990) (115)
MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression (2011) (115)
Transcriptional and post-transcriptional regulation of L-type pyruvate kinase gene expression in rat liver. (1986) (115)
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency (2013) (114)
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. (2016) (113)
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. (2001) (112)
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype (2002) (112)
MRI Findings in 77 Children with Non-Syndromic Autistic Disorder (2009) (109)
Human neural crest cells display molecular and phenotypic hallmarks of stem cells (2008) (109)
β1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome (2003) (109)
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1 (2013) (109)
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium (2014) (108)
Clinical and genetic heterogeneity in retinitis pigmentosa (1990) (107)
Clinical and genetic heterogeneity of hypochondroplasia. (1996) (107)
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation (2014) (107)
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. (2014) (107)
TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd. (2005) (105)
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. (1997) (105)
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. (1998) (105)
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (2008) (105)
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. (1997) (104)
CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice (2007) (104)
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. (1996) (104)
Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System (2010) (103)
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. (2009) (101)
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (2003) (101)
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies (1998) (101)
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency (1999) (100)
Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease (1997) (99)
Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias. (2004) (99)
Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood (2008) (99)
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus (1999) (99)
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia (2007) (98)
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. (2013) (98)
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male (2001) (97)
Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus (2012) (97)
XNP mutation in a large family with Juberg-Marsidi syndrome (1996) (97)
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation (2012) (97)
Deferiprone in Friedreich ataxia: A 6‐Month randomized controlled trial (2014) (97)
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. (2001) (96)
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. (1991) (96)
Clinical aspects of mitochondrial disorders (1992) (96)
Clinical presentations and laboratory investigations in respiratory chain deficiency (1996) (96)
Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures. (1993) (96)
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation (2009) (94)
Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes. (1998) (94)
Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations. (1998) (94)
Assessment of the mitochondrial respiratory chain (1991) (94)
MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice (2009) (94)
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation (2007) (93)
Epileptic phenotypes in children with respiratory chain disorders (2010) (93)
The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution. (1999) (93)
Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia–ventricular septal defect (1998) (92)
A gene for Meckel syndrome maps to chromosome 11q13. (1998) (90)
A duplication in the L1CAM gene associated with X–linked hydrocephalus (1993) (90)
Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. (1991) (90)
Heart Hypertrophy and Function Are Improved by Idebenone in Friedreich's Ataxia (2002) (90)
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties (2005) (90)
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. (1996) (89)
β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome (2001) (89)
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. (1999) (89)
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location. (2000) (88)
XYLT1 mutations in Desbuquois dysplasia type 2. (2014) (88)
A retGC-1 mutation in autosomal dominant cone-rod dystrophy. (1998) (88)
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency (2010) (87)
Tequila, a Neurotrypsin Ortholog, Regulates Long-Term Memory Formation in Drosophila (2006) (87)
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia (2012) (87)
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. (1996) (87)
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. (2012) (87)
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. (2009) (87)
Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. (1997) (86)
The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene (2009) (86)
PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism (2000) (86)
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. (1998) (86)
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition (2000) (85)
CpG dinucleotides are mutation hot spots in phenylketonuria. (1989) (85)
TP63 gene mutation in ADULT syndrome (2001) (84)
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. (2001) (84)
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus (2007) (84)
New insights into genotype–phenotype correlation for GLI3 mutations (2014) (83)
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. (2001) (83)
Identification of CANT1 mutations in Desbuquois dysplasia. (2009) (82)
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. (1998) (82)
Ret in human development and oncogenesis (1997) (82)
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. (2008) (82)
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families (2009) (82)
Hair and skin disorders as signs of mitochondrial disease. (1999) (81)
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation (2002) (81)
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease (2007) (80)
Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions. (2008) (80)
An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle. (1995) (79)
Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature (2004) (79)
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. (2007) (79)
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay (2000) (79)
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis (2003) (79)
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). (2003) (78)
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia (2012) (78)
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging (1999) (78)
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD (2004) (78)
Genetic features of mitochondrial respiratory chain disorders. (2003) (78)
Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency☆ (2013) (78)
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. (1994) (77)
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. (1992) (76)
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome (2006) (76)
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families (2013) (76)
A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse (2018) (76)
Incidence and clinical features of X‐linked Cornelia de Lange syndrome due to SMC1L1 mutations (2007) (76)
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies (2016) (75)
ABCR gene analysis in familial exudative age-related macular degeneration. (2000) (75)
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form (2014) (75)
Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease (2014) (75)
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy (2014) (75)
Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies. (1994) (75)
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. (2003) (74)
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. (2013) (74)
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. (2012) (73)
Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. (1995) (73)
A third locus for dominant optic atrophy on chromosome 22q (2005) (73)
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype–phenotype correlation (2008) (73)
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. (2013) (73)
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. (1994) (73)
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene (2002) (73)
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation (1999) (72)
Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome (1999) (72)
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. (2015) (72)
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis. (2013) (72)
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations (2004) (71)
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. (1989) (71)
Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with leigh syndrome (1992) (71)
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. (1995) (71)
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α‐ketoglutarate dehydrogenase deficiency (2005) (70)
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). (1997) (70)
Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. (1990) (70)
SMN gene deletions in adult-onset spinal muscular atrophy (1995) (70)
Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver (1993) (70)
Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease (2001) (69)
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence (2014) (68)
Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model. (2016) (68)
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum (2009) (67)
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome (2004) (66)
Clinical and genetic heterogeneity of Seckel syndrome. (2002) (66)
Infantile and pediatric quinone deficiency diseases. (2007) (66)
Expression of the RET proto-oncogene in human embryos. (1998) (65)
Multiple displacement amplification improves PGD for fragile X syndrome. (2006) (65)
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (2007) (64)
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. (2000) (64)
Memory effects in MTMM studies (1995) (63)
The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle. (1990) (63)
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. (2018) (63)
Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome (2008) (63)
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome (2003) (63)
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. (2000) (63)
Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts. (2003) (63)
Functional disomy of the Xq28 chromosome region (2005) (63)
Mutations in the basic domain and the loop–helix II junction of TWIST abolish DNA binding in Saethre–Chotzen syndrome (2001) (62)
A gene for Leber's congenital amaurosis maps to chromosome 17p (1995) (62)
Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? (2003) (62)
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation (2000) (62)
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour. (2013) (62)
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect (2012) (62)
In vivo hormonal control of L-type pyruvate kinase gene expression. Effects of glucagon, cyclic AMP, insulin, cortisone, and thyroid hormones on the dietary induction of mRNAs in the liver. (1984) (61)
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects (2015) (61)
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation (2001) (61)
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. (2013) (61)
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas (2017) (60)
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome (2014) (59)
Orthotopic liver transplantation for mitochondrial respiratory chain disorders: a study of 5 children. (2001) (59)
Correction of Fatty Acid Oxidation in Carnitine Palmitoyl Transferase 2–Deficient Cultured Skin Fibroblasts by Bezafibrate (2003) (59)
rs5888 Variant of SCARB1 Gene Is a Possible Susceptibility Factor for Age-Related Macular Degeneration (2009) (59)
Father‐to‐daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL Gene (2006) (59)
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome) (2008) (58)
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. (2000) (58)
Fluxes of Nicotinamide Adenine Dinucleotides through Mitochondrial Membranes in Human Cultured Cells* (1996) (58)
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. (2002) (58)
Features of DiGeorge syndrome and CHARGE association in five patients. (1997) (58)
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. (2009) (57)
Fatal lactic acidosis and liver steatosis associated with didanosine and stavudine treatment: a respiratory chain dysfunction? (2000) (56)
Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus (2005) (56)
Antenatal manifestations of Smith‐Lemli‐Opitz (RSH) syndrome: A retrospective survey of 30 cases (2004) (56)
Isolation and characterization of mitochondria from human B lymphoblastoid cell lines. (1992) (56)
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. (2002) (56)
DELETION OF BLOOD MITOCHONDRIAL DNA IN PANCYTOPENIA (1988) (55)
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases (2012) (55)
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease (2009) (55)
FGFR3 mutation causes abnormal membranous ossification in achondroplasia. (2014) (55)
Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome (2006) (55)
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene (2018) (54)
Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome (1994) (54)
Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome (2007) (54)
The 3M syndrome. (2011) (54)
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13 (2002) (54)
beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome. (2001) (54)
Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis. (1995) (54)
CONGENITAL LACTIC ACIDOSIS, α‐KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY (1982) (54)
PHOX2B gene mutation in a patient with late‐onset central hypoventilation (2004) (53)
Circadian rhythm disorder in a rare disease: Smith–Magenis syndrome (2006) (53)
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature (2002) (53)
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency. (1995) (52)
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1992) (52)
Segregation analysis in nonsyndromic holoprosencephaly. (1998) (52)
Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency. (1995) (52)
Pearson Syndrome in the Neonatal Period: Two Case Reports and Review of the Literature (2009) (51)
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. (2015) (51)
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia (1999) (51)
A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12 (1994) (51)
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome. (2012) (50)
Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients. (2006) (50)
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? (2018) (50)
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone (2001) (50)
Identification of seven novel mutations in the GAN gene (2003) (50)
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy (2012) (50)
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome. (2001) (49)
Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey (1989) (49)
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). (2001) (49)
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome (2009) (49)
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. (2008) (49)
Exclusion of WNT4 as a major gene in Rokitansky‐Küster‐Hauser anomaly (2005) (49)
Refractory anaemia and mitochondrial cytopathy in childhood (1994) (49)
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation. (2010) (49)
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q (2003) (49)
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation (2009) (49)
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features (2011) (48)
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. (2018) (48)
Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts. (2013) (48)
A Multisystem Mitochondrial Disorder in Infancy (1990) (48)
Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia. (2009) (48)
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up (2000) (48)
Dietary and hormonal regulation of aldolase B gene expression. (1985) (48)
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study. (1999) (48)
C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. (1996) (48)
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta (2018) (48)
Desbuquois dysplasia, a reevaluation with abnormal and “normal” hands: Radiographic manifestations (2004) (47)
Mitochondrial respiratory chain complex assembly and function during human fetal development. (2008) (47)
Regional siderosis: a new challenge for iron chelation therapy (2013) (47)
ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation (2012) (47)
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria. (1991) (47)
Recent advances in Dyggve-Melchior-Clausen syndrome. (2004) (47)
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays (2005) (47)
Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature (1998) (47)
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity (2014) (47)
Craniofacial anomalies and malformations in respiratory chain deficiency. (1996) (46)
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia. (1996) (46)
The Respiratory Chain (1995) (46)
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development (2006) (46)
Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus (2013) (46)
The ABCA4 gene in autosomal recessive cone-rod dystrophies. (2002) (46)
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. (1993) (45)
Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28 (2004) (45)
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. (1996) (45)
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome. (2007) (45)
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (2018) (45)
Genetic characterisation of circulating fetal cells allows non‐invasive prenatal diagnosis of cystic fibrosis (2006) (44)
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. (2013) (44)
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions (2009) (44)
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele (2003) (44)
Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis (2012) (44)
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. (1998) (44)
Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts. (2003) (44)
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. (2007) (44)
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. (2011) (44)
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)] (2015) (44)
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome (2010) (43)
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature (2016) (43)
A PCSK9 variant and familial combined hyperlipidaemia (2008) (43)
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. (1993) (43)
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia (2011) (43)
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype (2001) (43)
Genetic heterogeneitiy of Crigler-Najjar syndrome type I: A study of 14 cases (1994) (43)
Molecular insights into Friedreich's ataxia and antioxidant-based therapies. (2002) (43)
Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients (2014) (43)
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti (2004) (43)
Molecular diagnostics of mitochondrial disorders. (2004) (43)
Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomes. (2001) (43)
Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome. (2003) (43)
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X‐linked mental retardation syndrome (2008) (43)
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency (2000) (43)
Heart transplantation in children with mitochondrial cardiomyopathy (2001) (43)
Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency (2010) (43)
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses (1997) (42)
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. (1996) (42)
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus (2004) (42)
Sternal cleft: case report and review of a series of nine patients. (1995) (41)
Mutations in SURF1 are not specifically associated with Leigh syndrome (2001) (41)
Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination. (2001) (41)
Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. (2008) (41)
Severe manifestations in carrier females in X linked retinitis pigmentosa. (1997) (41)
Germline gain‐of‐function mutations of ALK disrupt central nervous system development (2011) (40)
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency. (2000) (40)
Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency. (1981) (40)
USH1A: chronicle of a slow death. (2006) (40)
Efficiency of metabolic screening in childhood cardiomyopathies. (1998) (40)
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. (1988) (40)
Myhre and LAPS syndromes: clinical and molecular review of 32 patients (2014) (40)
An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth. (2012) (40)
Cyclic AMP as a transcriptional inhibitor of upper eukaryotic gene transcription. (1984) (40)
Clinical and molecular overlap in overgrowth syndromes (2005) (40)
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (2013) (40)
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance (2001) (39)
Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome (2004) (39)
Extracellular proteases and their inhibitors in genetic diseases of the central nervous system. (2003) (39)
Expression of the SMADIP1 gene during early human development (2002) (39)
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf. (2011) (39)
Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation (2012) (39)
A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model. (2012) (39)
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature (1999) (39)
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology (2018) (39)
Mutations in BOREALIN cause thyroid dysgenesis (2016) (38)
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. (2002) (38)
Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome (2015) (38)
Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses. (1997) (38)
Mild phenotype in a 15‐year‐old boy with Pallister–Killian syndrome (2003) (38)
Respiratory chain deficiency presenting as congenital nephrotic syndrome (2005) (38)
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2 (2002) (37)
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1 (2010) (37)
Detection of heterozygousSMN1 deletions in SMA families using a simple fluorescent multiplex PCR method (2001) (37)
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern. (2001) (37)
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. (2010) (37)
The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly. (1999) (37)
Academic Impairment is the Most Frequent Complication of Neurofibromatosis Type-1 (NF1) in Children (2006) (37)
Increased paternal age in CHARGE association (1996) (37)
DEFECTIVE BIOTIN ABSORPTION IN MULTIPLE CARBOXYLASE DEFICIENCY (1981) (36)
Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations (2014) (36)
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome (2016) (36)
Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome (2005) (36)
Modeling of Antigenomic Therapy of Mitochondrial Diseases by Mitochondrially Addressed RNA Targeting a Pathogenic Point Mutation in Mitochondrial DNA* (2014) (36)
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia (1996) (36)
Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans. (2011) (36)
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. (2005) (36)
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment (2013) (36)
GUTHRIE CARDS FOR DETECTION OF POINT MUTATIONS IN PHENYLKETONURIA (1988) (35)
Valproate-induced hepatic failure in a case of cytochromec oxidase deficiency (1994) (35)
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations (2015) (35)
Microsatellite DNA markers detects 95% of chromosome 22q11 deletions. (1997) (35)
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies (2019) (35)
In vivo regulation of glycolytic and gluconeogenic enzyme gene expression in newborn rat liver. (1988) (35)
Mitochondrial diabetes mellitus. (1996) (35)
Respiratory chain deficiency in Alpers syndrome. (2001) (35)
No evidence of genetic heterogeneity in dominant optic atrophy. (1995) (35)
OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels (2010) (35)
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. (1997) (34)
Clinical and biochemical heterogeneity associated with fumarase deficiency (2011) (34)
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. (1997) (34)
The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia (2014) (34)
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition (2010) (34)
Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron‐induced injury in vitro (1999) (34)
Common Mutations in the Fibroblast Growth Factor Receptor 3 (FGFR 3) Gene Account for Achondroplasia, Hypochondroplasia and Thanatophoric Dwarfism (1997) (34)
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. (2015) (34)
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. (2014) (34)
Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency. (1999) (34)
NDP gene mutations in 14 French families with Norrie disease (2003) (33)
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism (2000) (33)
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. (1984) (33)
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome (2012) (33)
EXT 1 Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses (2000) (33)
Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5. (1991) (33)
Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families (2009) (33)
Molecular basis of mendelian disorders among Jews. (2000) (33)
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells (2015) (32)
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency (2009) (32)
Upper limb malformations in DiGeorge syndrome. (1995) (32)
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss‐of‐function mechanism for congenital central hypoventilation (2009) (32)
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay (2007) (32)
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency. (2008) (32)
Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance. (1995) (32)
Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. (2012) (31)
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency (2000) (31)
Prenatal cortical hyperostosis with COL1A1 gene mutation (2008) (31)
Clinical approach to inherited metabolic disorders in neonates. (1990) (31)
Presentation of six cases of Stüve-Wiedemann syndrome (1998) (31)
Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion. (1998) (31)
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects (2018) (31)
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. (2009) (31)
SHOX point mutations in dyschondrosteosis (2001) (30)
Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR. (2005) (30)
Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family. (1994) (30)
Coenzyme Q 10 Depletion is Comparatively Less Detrimental to Human Cultured Skin Fibroblasts than Respiratory Chain Complex Deficiencies (2002) (30)
RPL10 mutation segregating in a family with X‐linked syndromic Intellectual Disability (2015) (30)
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. (2016) (30)
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease (2005) (30)
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype (2010) (30)
FATTY-ACID-RESPONSIVE ALOPECIA IN MULTIPLE CARBOXYLASE DEFICIENCY (1980) (30)
Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity (2010) (30)
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis (2002) (30)
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy (2016) (30)
Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations (2005) (30)
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH (2013) (30)
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. (2015) (30)
Mosaicism in ATP1A3-related disorders: not just a theoretical risk (2016) (30)
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood (2015) (30)
Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature (2008) (29)
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome. (2016) (29)
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome (1998) (29)
Differential effects of glucose and fructose on liver L-type pyruvate kinase gene expression in vivo. (1987) (29)
SHOX gene mutations and deletions in dyschondrosteosis or Leri‐Weill syndrome (1999) (29)
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus. (1999) (29)
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D‐LCA phenotype (2005) (28)
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II (2007) (28)
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome (2020) (28)
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. (2009) (28)
Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. (2000) (28)
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. (1994) (28)
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation (1996) (28)
Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack (2017) (28)
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse) (2008) (28)
Posterior fossa imaging in 158 children with ataxia. (2010) (28)
Not All Floating‐Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP (2013) (28)
Expression of respiratory chain deficiencies in human cultured cells (1993) (28)
Contribution to carrier detection and genetic counselling in X linked retinoschisis. (1991) (28)
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria. (2008) (28)
Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X‐linked intellectual disability with distinctive facial appearance (2013) (28)
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. (2006) (27)
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay (2006) (27)
R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population (2010) (27)
IMPAD1 mutations in two Catel‐Manzke like patients (2012) (27)
Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations (2012) (27)
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. (2000) (27)
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3 (2003) (27)
Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation? (2006) (27)
GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype (2001) (27)
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature (2020) (27)
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease (2013) (26)
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. (1996) (26)
Ebstein anomaly associated with rearrangements of chromosomal region 11q. (1998) (26)
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria (1995) (26)
Diet-responsive proconvertin (factor VII) deficiency in homocystinuria. (1983) (26)
Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia (2013) (26)
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. (2004) (26)
Revisiting Pitfalls, Problems and Tentative Solutions for Assaying [General Articles] Mitochondrial Respiratory Chain Complex III in Human Samples (2004) (26)
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin (2002) (26)
Apolipoprotein-E-gene expression in rat liver during development in relation to insulin and glucagon. (1989) (26)
Identification of novel L1CAM mutations using fluorescence‐assisted mismatch analysis (1998) (26)
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation? (1998) (25)
Craniosynostosis and kidney malformation in a case of Hennekam syndrome. (1995) (25)
Clinical and genetic heterogeneity in Desbuquois dysplasia (2004) (25)
Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism. (1999) (25)
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1 (2002) (25)
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different (2004) (25)
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals (2019) (25)
Approach to the patient with a fatty acid oxidation disorder. (1992) (24)
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13 (1996) (24)
Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain. (1996) (24)
Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia. (2010) (24)
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. (2009) (24)
Neonatal management of organic acidurias: clinical update (1984) (24)
Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency. (2004) (24)
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy (2010) (24)
De-novo mutations of the RET proto-oncogene in Hirschsprung's disease (1994) (24)
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases (2003) (24)
Sulphate transporter gene mutations in apparently isolated club foot (2001) (24)
Mutation in TTI2 Reveals a Role for Triple T Complex in Human Brain Development (2013) (23)
Early Grade Repetition and Inattention Associated With Neurofibromatosis Type 1 (2007) (23)
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria. (1991) (23)
Structure and refinement of the physical mapping of the γ-glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma (1998) (23)
Data from artificial models of mitochondrial DNA disorders are not always applicable to humans. (2014) (23)
[Contribution of genetics]. (1999) (23)
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency (1997) (23)
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder (2019) (23)
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth (2010) (23)
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. (1999) (23)
The consequences of a mild respiratory chain deficiency on substrate competitive oxidation in human mitochondria. (1997) (22)
Epithelial barrier dysfunction in desmoglein-1 deficiency. (2018) (22)
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia (2011) (22)
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria. (1993) (22)
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome (2000) (22)
Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts (1993) (22)
The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation (2012) (22)
Cell-Free Translation of Messenger RNAs from Human Muscle Biopsies: a Miniaturized Tool for Investigation of Neuromuscular Diseases (1982) (22)
In Vitro Splicing Deficiency Induced by a C to T Mutation at Position −3 in the Intron 10 Acceptor Site of the Phenylalanine Hydroxylase Gene in a Patient with Phenylketonuria(*) (1995) (22)
In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome (2010) (22)
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families (2004) (22)
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population (2016) (22)
Toward genotype phenotype correlations in GFM1 mutations. (2012) (22)
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases (2010) (22)
Kidney involvement in mitochondrial disorders. (1995) (21)
High‐throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy (2010) (21)
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype (2013) (21)
Thanatophoric dysplasia caused by double missense FGFR3 mutations (2009) (21)
Leigh Syndrome: Pyruvate Dehydrogenase Defect. A Case With Peripheral Neuropathy (1994) (21)
DEFICIENT LIVER BIOTINIDASE ACTIVITY IN MULTIPLE CARBOXYLASE DEFICIENCY (1983) (21)
New Insight on FGFR3-Related Chondrodysplasias Molecular Physiopathology Revealed by Human Chondrocyte Gene Expression Profiling (2009) (21)
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families. (1993) (21)
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). (1993) (21)
Polyalanine expansions might not result from unequal crossing‐over (2007) (21)
Refining the phenotype associated with CASC5 mutation (2015) (21)
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood (2014) (21)
22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype (2018) (20)
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency. (2012) (20)
Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. (2007) (20)
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane. (2013) (20)
Another observation with VATER association and a complex IV respiratory chain deficiency. (2006) (20)
Multiplex Ligation-Dependent Probe Amplification Improves the Detection Rate of NKX2.1 Mutations in Patients Affected by Brain-Lung-Thyroid Syndrome (2012) (20)
The investigation of respiratory chain disorders in heart using endomyocardial biopsies (1993) (20)
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia (2020) (20)
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. (2017) (20)
Long‐term outcome in desbuquois dysplasia: A follow‐up in four adult patients (2004) (19)
High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency (2018) (19)
Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy. (2005) (19)
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa. (1994) (19)
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse) (2003) (19)
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia (1996) (19)
Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study (2001) (19)
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34 (2007) (19)
New insights in congenital bowing of the femora (2004) (19)
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency (2004) (19)
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography (2000) (19)
Relation of genotype 22 q 11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia – ventricular septal defect (1998) (19)
Casting an eye on the Krebs cycle (2008) (19)
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. (1986) (19)
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases. (1995) (19)
Two Novel Missense Mutations in the Peripherin/RDS Gene in two Unrelated French Patients with Autosomal Dominant Retinitis Pigmentosa (1998) (18)
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications (2012) (18)
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes. (2002) (18)
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? (1995) (17)
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease. (1994) (17)
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. (1999) (17)
Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis (2003) (17)
Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest? (2018) (17)
Genetic heterogeneity of Meckel syndrome. (1997) (17)
Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). (2001) (17)
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria). (2004) (17)
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy (2006) (17)
Defects of the Respiratory Chain (2000) (17)
Expanding the skeletal phenotype of Loeys‐Dietz syndrome (2011) (17)
X-linked hydrocephalus: Clinical heterogeneity at a single gene locus (1992) (17)
Investigation of respiratory chain activity in human heart. (1993) (17)
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome) (1993) (17)
Human genes involved in chromatin remodeling in transcription initiation, and associated diseases: An overview using the GENATLAS database. (1999) (16)
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait. (1999) (16)
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement (2018) (16)
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. (1999) (16)
Genetic background of clinical homogeneity of phenylketonuria in Poland. (1993) (16)
Human cultured skin fibroblasts survive profound inherited ubiquinone depletion (2001) (16)
[Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome]. (2003) (16)
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene (1991) (16)
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita (2021) (16)
Mutations in TBR1 gene leads to cortical malformations and intellectual disability. (2018) (16)
The place of 'social sexing' in medicine and science. (2002) (16)
New case of interstitial deletion 12(q15‐q21.2) in a girl with facial dysmorphism and mental retardation (2008) (16)
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency (2004) (15)
Gorlin syndrome presenting as prenatal chylothorax in a girl (2005) (15)
No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD. (2011) (15)
Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich's ataxia fibroblasts. (2021) (15)
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis (2018) (15)
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene (2001) (15)
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly (2015) (15)
A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency. (2013) (15)
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020) (15)
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). (1996) (15)
Respiratory chain deficiency in a female with Aicardi‐Goutières syndrome (2006) (14)
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1 (1999) (14)
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France (1996) (14)
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia (2018) (14)
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36 (2006) (14)
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in North African Jews with phenylketonuria (1993) (14)
Abstracts of the 35th American Cytogenetics Conference (1998) (14)
Origins of Hyperphenylalaninemia in Israel (1994) (14)
Scalp‐ear‐nipple (Finlay–Marks) syndrome: a familial case with renal involvement (1999) (14)
The effects of common bile duct ligation upon the rat liver β‐adrenergic receptor‐adenylate cyclase system (1979) (14)
Synaptic protein dysregulation in myotonic dystrophy type 1 (2013) (14)
Prenatal diagnosis of a satellited non‐acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature (1999) (13)
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood. (1999) (13)
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF‐&kgr;B activation and leads to incontinentia pigmenti (2017) (13)
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. (2012) (13)
Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease (2007) (13)
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? (2002) (13)
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria (1994) (13)
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis (1981) (13)
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12 (2009) (13)
Transient transcriptional inhibition of the transferrin gene by cyclic AMP (1985) (13)
Contiguous mutation syndrome in the era of high-throughput sequencing (2015) (13)
Tricuspid atresia and conotruncal malformations in five families (1999) (12)
DETECTION OF PHENYLALANINE HYDROXYLASE MESSENGER RNA IN LIVER BIOPSY SAMPLES FROM PATIENTS WITH PHENYLKETONURIA (1985) (12)
[Prenatal diagnosis of autosomal recessive polycystic kidney disease]. (2000) (12)
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening (2001) (12)
Rat Liver β-Adrenergic Receptors: Identification and Characterization with (-)[3H]Dihydroalprenolol (1981) (12)
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure (1994) (12)
Molecular basis of phenylketonuria in France (1993) (12)
Site specific screening for point mutations in ornithine transcarbamylase deficiency. (1992) (12)
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation (2004) (12)
Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples. (2004) (12)
Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13 (2019) (12)
Dietary and hormonal regulation of L-type pyruvate kinase gene expression in rat small intestine. (1987) (12)
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type (2000) (12)
Facial anomalies in D-2-hydroxyglutaric aciduria. (1999) (12)
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome (2020) (12)
Discontinuity in the fall of left-handedness in a French population: A May '68 effect? (2006) (12)
Denaturing high‐performance liquid chromatography (DHPLC)‐based prenatal diagnosis for tuberous sclerosis (2001) (12)
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome (2013) (12)
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example (2008) (12)
The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations. (2008) (12)
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation (2001) (12)
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein–Barr virus–transformed lymphocytes in Pearson syndrome (1995) (11)
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations. (2020) (11)
B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome? (2001) (11)
3-Methylglutaconic aciduria in a patient with Pearson syndrome (1993) (11)
[Mutations of RET proto-oncogene in Hirschsprung disease]. (1994) (11)
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations (2020) (11)
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness (2015) (11)
Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders (2017) (11)
Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous (1992) (11)
Iron overload and mitochondrial diseases (1998) (11)
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum (2004) (11)
Response to Comment on "Tequila, a Neurotrypsin Ortholog, Regulates Long-Term Memory Formation in Drosophila" (2007) (11)
Searching for secondary findings: considering actionability and preserving the right not to know (2019) (11)
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain (2001) (11)
mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy. (1991) (11)
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations (2018) (11)
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. (2018) (11)
1q32-q41 microdeletion with reference to Van der Woude syndrome and allied clefting entities. (2000) (11)
Mitochondrial ND5 mutations mimicking brainstem tectal glioma (2010) (10)
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures (2019) (10)
Werner mesomelic dysplasia with Hirschsprung disease (2003) (10)
Protein truncation test for screening hamartin gene mutations and report of new disease‐causing mutations (1999) (10)
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? (1992) (10)
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia (1998) (10)
Sickle SCAN™ (BioMedomics) fulfills analytical conditions for neonatal screening of sickle cell disease. (2018) (10)
Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a “Sotos-like” syndrome? (2002) (10)
Submicroscopic deletions at 13q32.1 cause congenital microcoria. (2015) (10)
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. (1990) (10)
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti. (2017) (10)
Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre (2019) (10)
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation (2005) (10)
Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: An in vitro model to study chondrodysplasias (2007) (10)
Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? (1999) (9)
Two distinct mutations at a single BamHI site in phenylketonuria. (1991) (9)
Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination. (2002) (9)
Prenatal exclusion of X‐linked hydrocephalus‐stenosis of the aqueduct of sylvius sequence using closely linked DNA markers (1993) (9)
[Carbohydrate-deficient blood glycoprotein syndrome]. (2000) (9)
A novel polymorphism in the coding sequence of the human RET proto-oncogene (1994) (9)
Septo-optic dysplasia and digital anomalies: another observation. (2002) (9)
Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping (1998) (9)
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA. (2006) (9)
A probable sex difference in mutation rates in ornithine transcarbamylase deficiency (2004) (8)
Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration (2013) (8)
Severe complex I deficiency in a case of neonatal‐onset lactic acidosis and fatal liver failure (1997) (8)
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. (2019) (8)
Long‐term follow‐up in a patient with metatropic dysplasia (2005) (8)
[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease]. (1997) (8)
[Metabolic and genetic investigations in childhood cardiomyopathies]. (1999) (8)
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24). (1992) (8)
Filippi syndrome: a new case with skeletal abnormalities. (1995) (8)
Possible genetic heterogeneity in the Saethre-Chotzen syndrome (1996) (8)
An animal model for maternal phenylketonuria. (1991) (8)
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease (2012) (8)
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis (1995) (8)
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects (2021) (8)
Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts. (1982) (7)
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? (2011) (7)
Sequence and structure of the human OXA1L gene and its upstream elements. (1997) (7)
OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort (2021) (7)
Myhre and LAPS syndromes: clinical and molecular review of 32 patients (2014) (7)
Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene (2007) (7)
[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances]. (2004) (7)
Genome‐wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation (2004) (7)
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations. (2021) (7)
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review. (2020) (7)
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1 (2021) (7)
Genetic homogeneity of the Camurati–Engelmann disease (2000) (7)
Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)—A distinct syndrome? (2010) (7)
Mitochondrial DNA inheritance in patients with deleted mtDNA (2001) (7)
Variable outcome of growth hormone administration in respiratory chain deficiency. (2008) (7)
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern. (1994) (6)
[Genetics of Hirschsprung disease]. (1996) (6)
Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy (2001) (6)
Letter to the Editor: Enzyme Replacement Therapy by Transplantation of HLA-Compatible Fibroblasts in Sanfilippo Syndrome: Another Trial (1982) (6)
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene. (1996) (6)
Absence of functional messenger RNA for glycogen phosphorylase in the muscle of two patients with McArdle's disease (1983) (6)
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia (1995) (6)
Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q. (2000) (6)
Relative Enzymatic Activity Levels from In Silico Mutagenesis. (2012) (6)
Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2. (2000) (6)
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. (2001) (6)
[Beta mannosidosis: a new case]. (1997) (6)
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma. (1996) (6)
An extracorporeal hollow-fiber reactor for phenylketonuria using immobilized phenylalanine ammonia lyase. (1986) (6)
[Gene localisation in 12q12 in Holt-Oram atrio-digital syndrome]. (1995) (6)
Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy (2019) (6)
Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo‐obstruction (2011) (6)
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases. (2001) (6)
Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene (2012) (6)
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes (1996) (6)
Corpus callosum metrics predict severity of visuospatial and neuromotor dysfuntions in ARID1B mutations with Coffin-Siris syndrome. (2019) (6)
Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation (2007) (6)
Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria. (1994) (6)
Retinal branch vein occlusion associated with macular dystrophy, maternally inherited diabetes, and deafness. (1997) (6)
[Multiple biotin-dependent carboxylase deficiencies (author's transl)]. (1981) (6)
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2. (2000) (6)
Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain (1991) (6)
[Identification of mutation of RET proto-oncogene in Hirschsprung disease]. (1994) (5)
Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes (1997) (5)
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival (2020) (5)
Multiple molybdoenzyme deficiencies due to an inborn error of molybdenum cofactor metabolism: Two additional cases in a new family (1983) (5)
Neurological Disorders Associated with Iron Misdistribution: The Therapeutic Potential of Siderophores (2011) (5)
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency. (2000) (5)
A PstI polymorphism at the D5S39 locus. (1990) (5)
Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship. (1998) (5)
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p. (1993) (5)
Screening human EST database for identification of candidate genes in respiratory chain deficiency. (2000) (5)
Evidence for a fourth locus in Usher syndrome type I. (1996) (5)
[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia]. (1996) (5)
Pitfalls in molecular diagnosis of Friedreich ataxia. (2018) (5)
Characterization and metabolic regulation of a liver-specific 5.4-kilobase mRNA whose synthesis is transcriptionally induced by carbohydrates and repressed by glucagon and cyclic AMP. (1985) (5)
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene]. (1992) (5)
No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells (2017) (5)
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome (2014) (5)
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Not all hypochondroplasia families are linked to chromosome 4p16.3 (1994) (5)
Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25). (1993) (5)
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? (2020) (4)
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders (2021) (4)
Recurrent de novo mutations in CLDN5 induce an anion-selective blood–brain barrier and alternating hemiplegia (2022) (4)
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Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report. (2001) (4)
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Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders (2013) (4)
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[From monogenic to polygenic: model of Hirschsprung disease]. (1998) (4)
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders (2020) (4)
Mutations in BCS1, a mitochondrial respiratory chain assembly gene, are responsible for complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. (2001) (4)
molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum (2009) (4)
Exclusion of five subunits of cGMP phosphodiesterase in Leber’s congenital amaurosis (1998) (4)
Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial aggregation in schizophrenia spectrum disorders (2017) (4)
Sex selection by preimplantation genetic diagnosis: should it be carried out for social purposes?Is preimplantation genetic diagnosis for ‘social sexing’ desirable in today's and tomorrow's society? (2003) (4)
Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia (2016) (4)
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability (2020) (4)
First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia (2018) (4)
Biallelic IARS2 mutations presenting as sideroblastic anemia (2020) (4)
Advances in genetics: what are the benefits for patients? (2005) (4)
A 3‐base pair in‐frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late‐onset hyperammonemic coma (1996) (4)
In situ hybridization of two markers closely flanking the spinal muscular atrophy gene to 5q12----q13.3. (1991) (4)
Neurobehavioral profile and brain imaging study of 22q13.3 deletion syndrome (2008) (4)
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells. (2021) (4)
Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium. (1983) (4)
[Positive diagnosis of Leber's hereditary optic neuropathy using molecular genetics]. (1997) (4)
[Double deficiency of sulfite and xanthine oxidase causing encephalopathy and due to a hereditary anomaly in the metabolism of molybdenum]. (1982) (4)
Mosaic compound heterozygosity of SHOX resulting in Leri–Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks (2010) (4)
[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations]. (2014) (4)
cDNA sequence, genomic organization and mapping of PDE6D, the human gene encoding the delta subunit of the cGMP phosphodiesterase of retinal rod cells to chromosome 2q36. (1997) (4)
Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation (2016) (3)
Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity. (1990) (3)
Corrigendum: A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 (1994) (3)
[Preimplantation genetic diagnosis and its psychological effects]. (2003) (3)
[Preimplantation diagnosis with HLA typing: birth of the first double hope child in France]. (2011) (3)
Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy (2013) (3)
[Leber's optic neuropathy: new diagnostic prospects]. (1992) (3)
No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients. (2001) (3)
DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR. (1994) (3)
A new lethal syndrome of exomphalos, short limbs, and macrogonadism (1999) (3)
[Preimplantation genetic diagnosis: update of the Parisian group]. (2002) (3)
[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I]. (1998) (3)
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria. (1992) (3)
Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease. (1995) (3)
Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy (2010) (3)
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (γ‐hydroxybutyric aciduria) (2004) (3)
[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)]. (1996) (3)
Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus. (1993) (3)
Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts (1992) (3)
O▪26 Preimplantation diagnosis of the NARP mitochondrial DNA mutation (2005) (2)
Mutation analysis of the DKC1 gene in incontinentia pigmenti (1999) (2)
Hemoglobin S Screening Using the « Sickle Scan » - Biomedomics System. the Necker-Enfants Malades Hospital Experience (2016) (2)
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency (2020) (2)
Strong medicine for French research. Arnold Munnich interviewed by Declan Butler. (2010) (2)
A new osteogenesis imperfecta with improvement over time maps to 11q (2008) (2)
The Computerized Adaptable Test Battery (BMT-i) for Rapid Assessment of Children's Academic Skills and Cognitive Functions: A Validation Study (2021) (2)
Tuberous sclerosis (TSC) (2011) (2)
Control of Hepatic Gene Expression at Both Transcriptional and Posttranscriptional Levels by cAMP (1986) (2)
Exclusion of the cone-specific α-subunit of the transducin gene in Stargardt's disease (1995) (2)
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Identification du gène responsable des amyotrophies spinales: perspectives (1995) (2)
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism (2021) (2)
An Evaluation of Three Ways of Communicating Carrier Status Results to the Parents of Children in a Neonatal Sickle Cell Screening Programme (2020) (2)
[Preimplantation genetic diagnosis experience in Paris: evaluation of first births]. (2002) (2)
Expanding the clinical spectrum of MTTF mutations (2019) (2)
Expression study of genes involved in iron metabolism in human tissues. (2001) (2)
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Improvement of cystic fibrosis using antitumoral drugs: a hypothesis. (2000) (2)
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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (2018) (2)
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20 (2020) (2)
Preimplantation diagnosis for mitochondrial DNA disorders: contribution to understanding mitochondrial DNA segregation during early human embryonic development (2008) (2)
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Mitochondrial DNA mutations do not impact early human embryonic development. (2021) (2)
Mitochondrial double-stranded RNA triggers antiviral signalling in humans (2018) (2)
Clinical Report Atypical Findings in Kabuki Syndrome: Report of 8 Patients in a Series of 20 and Review of the Literature (2004) (2)
Clinical and Genetic Heterogeneity of Leber’s Congenital Amaurosis (1993) (2)
Dominant X-linked RP is Frequently Accounted for by Truncating Mutations in the Exon ORF15 of the RPGR Gene (2002) (2)
PRENATAL DIAGNOSIS OF THE UREA CYCLE DISEASE (1995) (2)
P 367 Two novel missense mutations of peripherin/RDS gene in autosomal dominant retinitis pigmentosa (ADRP), in pedigrees from France (1995) (2)
[Pearson's syndrome: a multi-system disorder based on a mt-DNA deletion]. (1991) (2)
Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial. (2003) (1)
External Validation of BMT-i Computerized Test Battery for Diagnosis of Learning Disabilities (2021) (1)
Carbohydrate-deficient glycoprotein syndrome: Report of 23 patients (1999) (1)
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Non-Syndromic X Linked Intellectual Disability in Two Brothers with A Novel NLGN4X Gene Splicing Mutation (NC_018934.2: g. 1202C>A) (2015) (1)
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One gene, several messages. From multifunctional proteins to endogenous opiates (2004) (1)
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The CLDN5 gene at the blood-brain barrier in health and disease (2023) (1)
Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families (2012) (1)
[Friedreich's ataxia and mitochondria: the puzzle reconstructed]. (1999) (1)
Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype (2019) (1)
Transcriptional and Posttranscriptional Regulation of Glycolytic Enzyme Gene Expression in the Liver (1986) (1)
ORTHOTOPIC LIVER TRANSPLANTATION FOR MITOCHONDRIAL RESPIRATORY CHAIN DISORDERS: A STUDY OF 5 CHILDREN1 (2001) (1)
Contribution tocarrier detection andgenetic counselling inX linked retinoschisis (2017) (1)
Coenzyme Q Deficiency in Two Unrelated Patients—Molecular Studies (2000) (1)
Successful preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease by haplotype analysis (2008) (1)
Clinical and molecular overlap in overgrowth syndromes (1)
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Association of TCF7L2 variation with single islet autoantibody expression in children (2002) (1)
Three Different ABCA4 Mutations in the Same Large Consanguineous Family Affected With Autosomal Recessive Cone–Rod Dystrophy: Further Evidence for a High Frequency of ABCA4 Heterozygote Carriers (2006) (1)
Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa (1998) (1)
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22. (2006) (1)
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Usher Syndrome Type 1a: From Myth to Reality (2006) (1)
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Environmental interactions between reproductive performance and milk yield in high-yielding cows in the USA (1995) (1)
Allelic Heterogeneity of SMARD1 at the IGHMBP2 (2004) (1)
Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses. (1994) (1)
Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease. (1995) (1)
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Prenatal diagnosis of cystic fibrosis (1997) (1)
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal (1992) (1)
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Short Communication: Defective Insulin Response to Intravenous Glucose in Congenital Lactic Acidosis (1982) (0)
Clinical and radiological description of 120 pediatric stroke-like episodes. (2023) (0)
with expression during human development truncating mutations correlates CHD7 fetuses with Phenotypic spectrum of CHARGE syndrome in (2009) (0)
Mutations of the EDN3 gene in isolated and syndromic Hirschsprung's disease. (1997) (0)
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Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies (2022) (0)
Mutations in a Gene Encoding a Mitochondrial Protein as a First Cause of Recessively Inherited Simple Optic Atrophy (2009) (0)
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Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations (2019) (0)
Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest? (2018) (0)
BamHI site in phenylketonuria . Two distinct mutations at a single (0)
285 Peripheral neuropathy as the predominant manifestation of a mitochondrial DNA deletion (1999) (0)
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals (2019) (0)
3235 A gene for Leber's congenital amaurosis maps to chromosome 17p (1995) (0)
P31 Successful preimplantation genetic diagnosis (PGD) test for Hirschsprung disease (2010) (0)
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Unexpected Retinal Expression In A Three-generation Family Of Females Who Turned Out To Be Carriers Of X-linked Retinitis Pigmentosa (2011) (0)
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Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly (2015) (0)
Pregnancy in MNGIE: a clinical and metabolic honeymoon (2020) (0)
Immunodetection of the Survival Motor Neuron gene products in controls and SMA patients (1995) (0)
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Isolation and transcriptional profiling of embryonic human neural crest cells (2016) (0)
Rd3 Mutations Are Responsible For Gucy2d-like Lca (2012) (0)
SECTION I: CLINICAL ASPECTS: MANAGEMENT AND OUTCOME (2009) (0)
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Successful pre‐implantation genetic diagnosis for Hirschsprung disease (2011) (0)
Comprehensive molecular diagnosis of 160 Leber congenital amaurosis or Early Onset Severe Retinal Dystrophy by targeted next generation sequencing. (2015) (0)
New trends in the treatment of inborn errors of metabolism: an overview. (1982) (0)
Partial duplication and point mutations of the ornithine carbamoyl transferase (OCT) gene in congenital hyperammonaemia (1994) (0)
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Genetic heterogeneity of multiple exostoses (1994) (0)
[Genetic tests: predict or curse]. (2000) (0)
BOREALIN Mutations in Thyroid Dysgenesis Reveal a New Function of this Protein in Cell Adhesion and Migration (2016) (0)
Preimplantation genetic diagnosis (PGD) of myotonic dystrophy (DM) by triplet primed PCR (TP-PCR): a protocol applicable to all at-risk couples. (2001) (0)
Coffin-siris syndrome with normal plasma biotinidase activity (1991) (0)
Association Study Between Mitochondrial Dna Polymorphisms And Risk Of Age-related Macular Degeneration (2011) (0)
Candidate Genes Study in Aged-Related Macular Degeneration (amd) in Patients Who Do Not Carry the at-Risk Alleles for Cfh and Loc387715 Genes (2009) (0)
â1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome (0)
Morphological Abnormalities of the Mitochondrial Network in Fibroblasts of Patients Affected With Autosomal Dominant and Recessive Optic Neuropathies (2007) (0)
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies (2019) (0)
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A FOURTH PHENOTYPE FOR AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA (2008) (0)
14 Potential of existing drugs in the treatment of respiratory chain disorders: Fibrates can stimulate residual capacities in RC-deficient cells (2007) (0)
A non‐pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX (2011) (0)
Long-term follow-up in a patient with metatropic dysplasia. Author's reply (2005) (0)
Familial deficiency in complex II of respiratory chain presenting as leukodystrophy (1992) (0)
[CRISPR/Cas9: a patch on the double helix ?] (2020) (0)
[Mitochondrial disorders]. (2009) (0)
Characterization of Clinical and Neurocognitive Features in a Family with a Novel OGT Gene Missense Mutation [c. 1193G>A/ (p. Ala319Thr)] (2015) (0)
Implication of the ABCR Gene in Autosomal Recessive Cone-rod Dystrophies (CRD) (2002) (0)
AON intravitreal injections allows manipulating splicing in retinal cells. (2014) (0)
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects (2018) (0)
Iqcb1 (nphp5) Mutations In Leber Congenital Amaurosis With Very Late Nephronophthisis (2011) (0)
Impact of activating fibroblast growth factor receptor 3 mutation in endochondral ossification (2011) (0)
Regulation de l'expression du gene de pyruvate kinase l dans le foie de rat (1989) (0)
P-250 A shared gene expression signature in human blastocyst embryos affected by a mitochondrial disorder (2022) (0)
[Rise of genetics: what are the benefits for children?]. (1996) (0)
Werdnig-Hoffmann disease (2004) (0)
Searching for secondary findings: considering actionability and preserving the right not to know (2019) (0)
Effect of idebenone on cardiomy o p a t hy in Fr i e d r e i c h 's ataxia: a p r e l i m i n a ry study (1999) (0)
Deferiprone, and methods for treating and / or preventing Friedreich ataxia resulting from poor handling intracellular iron (2007) (0)
[Advances in genetics: which benefits for the patients?]. (2005) (0)
P17 – 2103 Early epileptic encephalopathies associated with STXBP1 mutations: three new patients with different electroclinical profile evoluting to infantile spasms (2013) (0)
Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-Aggregation (2018) (0)
[Misnaming things adds to the world's misfortune]. (2016) (0)
Pilot Study of Patients Affected With Leber Congenital Amaurosis (LCA) Clinically Selected With Regard to the Previously Established Genotype–Phenotype Correlations (2006) (0)
Crosstalk between NF-kappaB and Wnt/beta-catenin pathways involved in skin appendages development (2009) (0)
7. Homozygosity mapping in Mabry syndrome: A syndrome with hyperphosphatasia with seizures, neurologic deficit and characteristic facial features (2009) (0)
Trinucleotide repeat polymorphism at the D5S556 locus. (1993) (0)
TimeandSpaceClusters oftheFrench-Canadian M IV Phenylketonuria Mutation inFrance (1992) (0)
[Early gene expression dysregulation and intellectual disability]. (2012) (0)
Expressed sequence tag database screening for identification of human genes. (2002) (0)
67 FAMILIAL INFANTILE CIRRHOSIS DUE TO DEFICIENCY OF RESPIRATORY CHAIN ENZYMES CODED BY MITOCHONDRIAL DNA (1994) (0)
MITOCHONDRIAL RESPIRATORY CHAIN DISORDERS (MRCD) AND ORTHOTOPIC LIVER TRANSPLANTATION (1998) (0)
[Impact of genetic information about diseases "not like the others"]. (2003) (0)
[Prenatal screening for phenylketonuria in 2 families by trophoblast biopsy]. (1987) (0)
Chronology of reported denaturing high performance liquid chromatography (DHPLC)‐based prenatal diagnoses (2003) (0)
G.O.4 The NF-kappaB activator PLEKHG5 gene is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset (2007) (0)
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency (2018) (0)
Genetic heterogeneity ofMeckelsyndrome (1997) (0)
13. Homozygosity mapping of Mabry syndrome: Identification of loci associated with alkaline phosphatase (ALP) gene over-expression or ALP protein over secretion (2011) (0)
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency (1981) (0)
Is genetics inhumane? (2008) (0)
Relocation of Cell Iron. A Mode of Chelation with Application to Diseases of Regional Iron Accumulation. (2007) (0)
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases. (2023) (0)
[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency]. (1987) (0)
COMMENT ON: PHENOTYPE-GENOTYPE CORRELATIONS IN X-LINED RETINITIS PIGMENTOSA (1996) (0)
Linkage Analysis inSpinal Muscular Atrophy, bySixClosely Flanking Markers on Chromosome5 (1991) (0)
Response to Drs. Shastry and Trese: phenotype-genotype correlations in X-linked retinitis pigmentosa. (1996) (0)
LOCALISATION OF A FIFTH GENE INVOLVED IN AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA (2008) (0)
Prevalence of Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis and Genotype–Phenotype Correlations (2005) (0)
Floating-Harbor syndrome Presentation of a new observation and review of the literature (1997) (0)
Erratum: Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome (American Journal of Human Genetics (2015) 97 (311-318)) (2015) (0)
Refining the phenotype associated with CASC5 mutation (2015) (0)
Clinical Aspects of Mitochon rial Disor ers (1992) (0)
implications Selective iron chelation in Friedreich ataxia. Biological and clinical (2012) (0)
Screening of the RP2 and RP3 Genes in Sporadic Cases of Retinitis Pigmentosa (RP) in Ambiguous X-Linked RP Families With Unexpected Recombination Events in Infants and in False Autosomal Dominant RP Families: Improvement of Genetic Counselling (2003) (0)
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. (2023) (0)
[New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]. (2006) (0)
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form (2013) (0)
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset]. (1989) (0)
[Jean Frézal, and the emergence of medical genetics]. (2008) (0)
High‐Throughput Sequencing in the Context of Human Genetic Diseases: Now and Tomorrow (2016) (0)
Iconography : Aspects psychologiques du diagnostic geacute;nétique pré-implantatoire (DPI) (2008) (0)
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival (2020) (0)
[Molecular genetics and prenatal diagnosis. Status and perspectives]. (1991) (0)
Autosomal Dominant Inheritance in a Family Affected with a Genuine Form of Leber Congenital Amaurosis (LCA) (2003) (0)
Williams syndrome is characterized by 1 megabase deletions on 7q encompassing the elastin gene (1996) (0)
[Regulation of genetic expression of the enzymes of glycolysis and gluconeogenesis in the liver of the diabetic]. (1988) (0)
DsaI polymorphism at the human cone transducin alpha-subunit detected by PCR (1994) (0)
Authors' reply — Clozapine for mitochondrial psychosis (2017) (0)
[Prenatal diagnosis of various hereditary blinding diseases]. (1990) (0)
Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus (2019) (0)
Year : 2003 Extracellular proteases and their inhibitors in genetic diseases of the central nervous system (2006) (0)
Histological Findings in GUCY2D–/– x PDERd10/rd10 Double Mutant Mice Suggest a Protective Effect of cGMP Depletion in Photoreceptors Lacking Rod–Specific PDE Function (2006) (0)
[Respiratory chain and mitochondrial DNA]. (1997) (0)
TheGeneEncoding p44,a Subunit oftheTranscription Factor TFIIH, IsInvolved inLarge-Scale Deletions Associated withWerdnig- Hoffmann Disease (1997) (0)
485 Mutations in ACTRT1 and its transcribed non-coding elements lead to aberrant activation of the Hedgehog signaling pathway in inherited and sporadic basal cell carcinomas (2016) (0)
Improving post-natal detection of mitochondrial DNA mutations (2020) (0)
[Phenylalanine-restricted diet. The portion-by-weight system]. (1983) (0)
Quantitative Susceptibility Mapping in Woodhouse‐Sakati Syndrome (2021) (0)
[Congenital malformations in pediatric tumors]. (1998) (0)
[Pre-implantation genetic diagnosis and spontaneous pregnancies: an unexpected acting out]. (2005) (0)
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (2018) (0)
["MIRVed" genes?! From multifunctional proteins to the endogenous opiates and other peptides]. (1982) (0)
Novel FARS2 mutations in patients with non-fatal early onset encephalopathy with or without epilepsy (2020) (0)
[The 2000 years]. (2015) (0)
[Detection of genetic carriers and antenatal diagnosis of juvenile retinoschisis by familial analysis in molecular biology]. (1988) (0)
Phenotype-Genotype Correlations in Retinal Degenerations Caused by Abcr gene Mutations (1999) (0)
therapeutic implications Redistribution of accumulated cell iron: a modality of chelation with (2013) (0)
[DNA and Duchenne de Boulogne myopathy]. (1985) (0)
P 3 . 2 Oral presentation Mutations in FKBP 10 , a collagen PPIase , extend the recessive phenotype associated with type XI OI , and cause diminished collagen cross-linking in matrix (2012) (0)
Cosegregation analysis of mutant ABCA4 allleles in families with both Stargardt disease (STGD) and age–related macular degeneration (AMD). (2004) (0)
[Metabolic, enzymological and molecular assessment of mitochondrial cytopathies]. (1991) (0)
Leber congenital amaurosis with early-onset severe macular atrophy and optic atrophy is likely pathognomonic of NMNAT1 mutations (2015) (0)
7.014 PGD is a valuable reproductive option for couples at risk of transmitting autosomal dominant disorders with high clinical variability (2008) (0)
[Misnaming things]. (2018) (0)
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia (2018) (0)
Inversion du rythme circadien de la mélatonine dans le syndrome de Smith-Magenis (2003) (0)
P32 Pitfalls of preimplantation genetic diagnosis for mitochondrial DNA mutations by using polar body analysis (2010) (0)
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (2018) (0)
Contents continued (2023) (0)
Ciliome resequencing: A lifeline for molecular diagnosis in LCA (2015) (0)
Twodistinct mutations ata single BamHIsite inphenylketonuria (1991) (0)
Clinical Study Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy (2015) (0)
Rapid communication Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa (1998) (0)
O-59. Birth of the first 13 infants conceived after PGD in a Paris centre (2002) (0)
3234 Evidence for a fourth locus responsible for usher syndrome type I (USID) (1995) (0)
drug-mediated iron relocation Cell functions impaired by frataxin deficiency are restored by (2013) (0)
1-02-11 Spinal muscular atrophy: Etiology and pathogenesis (1997) (0)
Mutations de la neurotrypsine et retard mental (2003) (0)
[Alopecia, chronic candidodis, mental retardation and repeated ketoacidosic comas curable by biotin administration: multiple carboxylases deficiency (author's transl)]. (1980) (0)
EP17.13: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations (2017) (0)
Cranial and craniovertebral junction anomalies in FGFR3Y367C/+ mice: New insights in normal and pathological skull growth (2012) (0)
[Mitochondrial cytopathies]. (1991) (0)
The Retinitis Pigmentosa GTPase Regulator - Interacting Protein 1 (RPGRIP1) Gene, a Gene Which Never Stops Expanding (2002) (0)
Chromosomal, molecular and morphological analysis of a human embryo with homogeneous trisomy of chromosome 8 (2016) (0)
Frequency of RP2 and RPGR Mutations in Male Sibships and in Sporadic Male Patients Affected With Retinitis Pigmentosa (2007) (0)
Method and samples to detect with the locus of infantile spinalamyotrophien associated markers (1995) (0)
[Advances in genetics: what benefits children?]. (1996) (0)
Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not? (2023) (0)
Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF (2019) (0)
[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa]. (1996) (0)
patients?in genetics: what are the benefits for (2008) (0)
In Search of the Forgotten Exon of the Human Crumbs Homolog 1 and Its Implication in LCA (2002) (0)
Effects of vetrabutina on the parturition of sows (1994) (0)
[Molecular genetics and prenatal diagnosis]. (1992) (0)
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome (2020) (0)
Antisense Oligonucleotide-mediated Exon Skipping Improves Primary Cilia Assembly In Fibroblasts Harbouring The Common Lca Cep290 C.2991+1655g>A Mutation (2012) (0)
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy (2023) (0)
Free communications (1986) (0)
G.P.156 Mutations in FAM111B cause Hereditary Fibrosing Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (2014) (0)
Friedreich Ataxia as an Example of the Dual Genome Control of Mitochondrial Function (2002) (0)
[Genetic diseases in mapping gene databases, genome interactive databases (GID)]. (1996) (0)
Mosaicism in ATP1A3-related disorders: not just a theoretical risk (2016) (0)

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