Jean-Louis Mandel | Academic Influence

Jean-Louis Mandel's AcademicInfluence.com Rankings

Jean-Louis Mandel

Biology

#3154

World Rank

#4862

Historical Rank

Genetics

#294

World Rank

#347

Historical Rank

biology Degrees

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Biology

Jean-Louis Mandel's Degrees

Doctorate Medicine University of Strasbourg
PhD Genetics University of Strasbourg

Why Is Jean-Louis Mandel Influential?

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According to Wikipedia, Jean-Louis Mandel, born in Strasbourg on February 12, 1946, is a French medical doctor and geneticist, and heads a research team at the Institute of Genetics and Molecular and Cellular Biology . He has been in charge of the genetic diagnosis laboratory at the University Hospitals of Strasbourg since 1992, as well as a professor at the Collège de France since 2003.

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Jean-Louis Mandel's Published Works

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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

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion (1996) (2557)
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters (1993) (1129)
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats (1996) (853)
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3 (1997) (822)
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion (1997) (741)
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation (1993) (726)
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. (1997) (698)
Fragile X syndrome (2017) (670)
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias (1995) (667)
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast (1996) (586)
Report of the committee on the genetic constitution of the X chromosome. (1988) (570)
Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein (1995) (502)
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form (1995) (484)
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif (2001) (457)
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. (2002) (415)
α-Amanitin: A specific inhibitor of one of two DNA-dependent RNA polymerase activities from calf thymus (1970) (414)
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome (1996) (405)
X-linked adrenoleukodystrophy. (2007) (388)
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. (2003) (367)
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes (1999) (361)
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy (2007) (349)
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P (2001) (341)
Ovalbumin gene is split in chicken DNA (1977) (323)
CYFIP/Sra-1 Controls Neuronal Connectivity in Drosophila and Links the Rac1 GTPase Pathway to the Fragile X Protein (2003) (317)
Adenovirus as an expression vector in muscle cells in vivo. (1992) (301)
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus (2006) (292)
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. (2008) (286)
The Fragile X mental retardation protein (2001) (274)
DNA methylation: organ specific variations in the methylation pattern within and around ovalbumin and other chicken genes. (1979) (269)
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. (1997) (252)
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. (1994) (250)
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. (2007) (249)
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. (2013) (244)
A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2 (2009) (239)
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. (2000) (238)
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. (2004) (231)
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing (2014) (229)
Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. (1994) (223)
Origin of the expansion mutation in myotonic dystrophy (1993) (221)
A cellular model that recapitulates major pathogenic steps of Huntington's disease. (1998) (216)
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis (1991) (210)
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice (2002) (208)
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping (1993) (207)
MTM1 mutations in X‐linked myotubular myopathy (2000) (207)
G–quadruplex RNA structure as a signal for neurite mRNA targeting (2011) (205)
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. (1996) (205)
Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms. (1996) (195)
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. (2002) (193)
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis (2011) (189)
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. (2004) (187)
The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. (1985) (187)
The evolutionary origin of peroxisomes: an ER-peroxisome connection. (2006) (175)
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. (2003) (175)
Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. (2000) (173)
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. (1992) (172)
The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer (2008) (171)
Rapid antibody test for fragile X syndrome (1995) (171)
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase (2009) (170)
The glyceraldehyde 3 phosphate dehydrogenase gene family: structure of a human cDNA and of an X chromosome linked pseudogene; amazing complexity of the gene family in mouse. (1984) (166)
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. (1992) (165)
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation (2009) (163)
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts. (2005) (160)
The ovalbumin gene family: Hormonal control of X and Y gene transcription and mRNA accumulation (1981) (160)
Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. (1985) (158)
Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male (1983) (156)
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. (1984) (152)
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation (1999) (152)
Production of Phosphatidylinositol 5-Phosphate by the Phosphoinositide 3-Phosphatase Myotubularin in Mammalian Cells* (2004) (145)
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. (2002) (142)
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). (1984) (138)
A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein. (1999) (137)
Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. (2002) (136)
Analysis of mammalian gene function through broad based phenotypic screens across a consortium of mouse clinics (2015) (135)
Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy. (1992) (133)
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. (2006) (132)
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families (1993) (131)
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture. (1995) (131)
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. (2011) (128)
Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. (1992) (127)
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. (1995) (127)
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease (2010) (125)
Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations (2004) (124)
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. (2010) (124)
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes (2012) (122)
Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis. (1998) (120)
Report of the committee on the genetic constitution of the X and Y chromosomes. (1987) (120)
Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. (1991) (117)
Isolation of mutant mammalian cells altered in polyamine transport (1978) (117)
Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy (2012) (114)
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. (1997) (114)
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies (2011) (114)
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis (2008) (114)
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. (1996) (110)
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (1998) (110)
DNA methylation: correlation with DNase I sensitivity of chicken ovalbumin and conalbumin chromatin. (1979) (107)
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype (2003) (106)
Monogenic causes of X-linked mental retardation (2001) (106)
Mutational analysis of patients with X‐linked adrenoleukodystrophy (1995) (105)
Heterogeneous Intracellular Localization and Expression of Ataxin-3 (1998) (104)
SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types. (2001) (103)
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia (2001) (102)
The myotubularin family: from genetic disease to phosphoinositide metabolism. (2001) (101)
Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. (2010) (99)
DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome (2004) (99)
Purification and Properties of Calf Thymus DNA-Dependent RNA Polymerases A and B (1970) (97)
Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts. (1995) (97)
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. (2014) (97)
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage. (2005) (96)
Animal DNA-dependent RNA polymerases. 1. Large-scale solubilization and separation of A and B calf-thymus RNA-polymerase activities. (1972) (93)
The ovalbumin gene family: Structure of the X gene and evolution of duplicated split genes (1980) (91)
Next generation sequencing for molecular diagnosis of neuromuscular diseases (2012) (91)
Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly. (2009) (90)
Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradient. (2007) (90)
Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines. (1998) (89)
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. (2011) (87)
Insulin stimulates myogenesis in a rat myoblast line (1974) (86)
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. (1985) (85)
The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding. (2003) (83)
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? (2021) (83)
The gene and its product (1989) (83)
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. (2014) (82)
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. (1998) (82)
Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice. (2002) (82)
Analysis of Domains Affecting Intracellular Localization of the FMRP Protein (1997) (81)
Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort (2005) (80)
Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene. (1984) (79)
Genomic organization of the adrenoleukodystrophy gene. (1994) (78)
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. (2002) (78)
Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation Sequencing (2014) (76)
Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic. (1997) (76)
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations. (1994) (76)
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. (1989) (75)
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. (1996) (75)
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. (1994) (75)
WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity. (2004) (75)
Report of the committee on the genetic constitution of the X chromosome (Part 1 of 7) (1991) (75)
Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons (2016) (75)
Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. (2006) (73)
The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27. (1994) (72)
82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. (2003) (72)
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. (1997) (72)
Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism (2006) (71)
On some technical aspects of direct DNA diagnosis of the fragile X syndrome. (1992) (69)
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance (2017) (69)
Organization of coding and intervening sequences in the chicken ovalbumin split gene (1978) (68)
Functional redundancy in the myotubularin family. (2002) (67)
Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA). (1991) (67)
Report of the Fourth International Workshop on human X chromosome mapping 1993 (1993) (66)
Animal DNA-dependent RNA polymerases. Studies on the reaction parameters of transcription in vitro of Simian virus 40 DNA by mammalian RNA polymerases AI and B. (1974) (66)
FMR1 gene and fragile X syndrome. (2000) (65)
Striking Founder Effect for the Fragile X Syndrome in Finland (1993) (64)
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy (2017) (64)
Diagnosis of X‐linked myotubular myopathy by detection of myotubularin (2001) (64)
Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. (1992) (64)
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. (1996) (64)
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition (2013) (63)
Isolation of cDNA clone encoding human homologue of senescence marker protein-30 (SMP30) and its location on the X chromosome. (1995) (63)
A 195-kb cosmid walk encompassing the human Xq28 color vision pigment genes. (1990) (62)
Conservation and reorganization of loci on the mammalian X chromosome: a molecular framework for the identification of homologous subchromosomal regions in man and mouse. (1988) (62)
Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination. (1991) (62)
A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosomes long arm. (1984) (62)
Questions of expansion (1993) (60)
NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes. (2003) (60)
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families. (1988) (59)
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways (2013) (58)
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. (2005) (57)
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome (2016) (57)
Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia. (1990) (57)
Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution. (1985) (57)
Polyglutamines, nuclear inclusions and neurodegeneration (1997) (56)
Trinucleotide diseases on the rise (1994) (56)
Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates (2008) (56)
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15. (1990) (56)
Breaking the rule of three (1997) (54)
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). (1994) (53)
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome (2012) (53)
Report of the fifth international workshop on human X chromosome mapping (1994) (53)
Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region. (1994) (53)
Linkage analysis suggests at least two loci for X-linked non-specific mental retardation. (1988) (52)
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A (2015) (51)
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. (1993) (51)
Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome. (1985) (51)
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation (2007) (50)
Disease Progression Despite Early Loss of Polyglutamine Protein Expression in SCA7 Mouse Model (2004) (50)
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1 (1997) (49)
Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder (2018) (49)
The ovalbumin gene family: complete sequence and structure of the Y gene. (1982) (48)
Clinical practice guidelines for BRCA1 and BRCA2 genetic testing. (2021) (48)
Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis. (1988) (48)
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. (2011) (47)
SPG11 spastic paraplegia (2009) (47)
Differential distribution of the normal and mutated forms of huntingtin in the human brain (1997) (47)
Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome (1987) (47)
Genetic mapping of new RFLPs at Xq27-q28. (1991) (46)
Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region. (1989) (46)
Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis. (1993) (45)
Five years of molecular diagnosis of Fragile X syndrome (1997–2001): A collaborative study reporting 95% of the activity in France (2004) (45)
Alpha-amanitin: a specific inhibitor of one of two DNA-pendent RNA polymerase activities from calf thymus. (1970) (44)
Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10. (2013) (43)
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome (2017) (43)
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders (2018) (43)
Fenofibrate differently alters expression of genes encoding ATP‐binding transporter proteins of the peroxisomal membrane (1997) (42)
Improved DNA markers for efficient analysis of fragile X families. (1988) (42)
Deciphering the cause of Friedreich ataxia (1997) (42)
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X‐linked myotubular myopathy (1999) (41)
Animal DNA-dependent RNA polymerases. Analysis of the RNAs synthesized on Simian virus 40 superhelical DNA by mammalian RNA polymerases AI and B. (1974) (41)
Genome analysis and the human X chromosome. (1992) (40)
Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues. (2004) (39)
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. (1997) (39)
Calf thymus RNA polymerases exhibit template specificity. (1970) (39)
Hsp70 and Hsp40 Chaperones Do Not Modulate Retinal Phenotype in SCA7 Mice*♦ (2004) (37)
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. (2017) (37)
Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome. (1990) (35)
The ovalbumin gene family. The 5' end region of the X and Y genes. (1982) (35)
Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation. (1992) (34)
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H (2009) (34)
Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome. (1987) (34)
METHYLATION AND MUTATION PATTERNS IN THE FRAGILE X SYNDROME (1992) (34)
Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. (1996) (33)
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing (2012) (33)
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families (2006) (33)
Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences. (1986) (33)
POLYMORPHIC DNA MARKERS IN PRENATAL DIAGNOSIS OF FRAGILE X SYNDROME (1985) (32)
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment (2019) (32)
Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms (2017) (32)
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing (2016) (31)
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. (2019) (30)
Sex-specific impact of prenatal androgens on social brain default mode subsystems (2018) (30)
A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region. (1987) (29)
Pathological mechanisms in Huntington's disease and other polyglutamine expansion diseases (1998) (29)
Amanitin binding to RNA polymerase II in α-amanitin-resistant rat myoblast mutants (1977) (29)
Dystrophin. The gene and its product. (1989) (28)
Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited. (1994) (27)
A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene. (1994) (27)
Report of the committee on the genetic constitution of the X chromosome (Part 1 of 3) (1990) (27)
Structural and functional properties of three mammalian nuclear DNA-dependent RNA polymerases. (1972) (26)
Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin. (2000) (26)
X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers (1996) (26)
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (2011) (26)
Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin (2003) (26)
Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome. (1990) (25)
Identification of a new frameshift mutation (1801delAG) in the ALD gene. (1994) (24)
Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system (2001) (24)
Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis. (1991) (24)
Repetitive satellite-like sequences are present within or upstream from 3 avian protein-coding genes. (1983) (23)
ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy (1996) (23)
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism (2016) (23)
Polyglutamine-containing proteins in schizophrenia (1999) (23)
Abstracts of workshop presentations (Part 13 of 13) (1985) (23)
Properties of polyglutamine expansion in vitro and in a cellular model for Huntington's disease. (1999) (22)
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect (2006) (22)
[Myotubular myopathy]. (2000) (22)
7 – Animal Nuclear DNA-Dependent RNA Polymerases (1974) (22)
Isolation and characterization of a family of sequences dispersed on the human X chromosome. (1988) (21)
Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26–q27 (1987) (21)
Seventh International Workshop on the Fragile X and X-linked Mental Retardation. (1996) (21)
Report of the committee on the genetic constitution of the X chromosome. (1988) (21)
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). (1994) (21)
Direct DNA analysis of fragile X syndrome in Spanish pedigrees. (1992) (21)
Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations. (1991) (21)
Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. (1985) (20)
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy (1998) (20)
Abstracts of workshop presentations (Part 2 of 16) (1987) (20)
The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus. (1989) (20)
Another link between phospholipid transmembrane migration and ABC transporter gene family, inferred from a rare inherited disorder of phosphatidylserine externalization. (1997) (20)
The red-green visual pigment gene region in adrenoleukodystrophy. (1990) (20)
Report and abstracts of the Fourth International Workshop on Human X Chromosome Mapping 1993. St. Louis, Missouri, May 9-12, 1993. (1993) (19)
Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint (1994) (19)
Abstracts of workshop presentations (Part 6 of 16) (1987) (19)
Prenatal diagnosis of Friedreich ataxia (1990) (18)
Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association. (1992) (18)
New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval. (1991) (18)
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity. (1998) (17)
The unstable and methylatable mutations causing the fragile X syndrome (1992) (17)
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. (2020) (17)
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families (2004) (17)
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases (2016) (17)
Genetic linkage heterogeneity in myotubular myopathy. (1995) (17)
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder (2021) (16)
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome (2020) (16)
SM2PH‐db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases (2010) (16)
First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (1985) (16)
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia (1989) (16)
Actin‐like sequences are present on human X and Y chromosomes. (1984) (16)
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes (2004) (16)
Close linkage of random DNA fragments from Xq 21.3–22 to X-linked agammaglobulinaemia (XLA) (1987) (16)
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis (2018) (15)
Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X site (2004) (15)
Pathological mechanisms in Huntington's disease and other polyglutamine expansion diseases. (1998) (15)
Size of the RNA's synthesized by purified Calf thymus DNA‐dependent RNA polymerases on SV40 DNA (1973) (15)
Multilocus analysis of the fragile X syndrome (1988) (15)
In utero Fetal Muscle Biopsy: A Precious Aid for the Prenatal Diagnosis of Duchenne Muscular Dystrophy (1999) (15)
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome (2016) (15)
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability (2018) (14)
X‐Linked Adrenoleukodystrophy (1996) (14)
Report of the committee on the genetic constitution of the X chromosome. (1990) (14)
Abstracts of workshop presentations (Part 1 of 13) (1985) (13)
Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP) (1998) (13)
Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus. (1992) (13)
An informative polymorphism detectable by polymerase chain reaction at the 3′ end of the dystrophin gene (1990) (12)
Spatial control of nucleoporin condensation by fragile X‐related proteins (2020) (12)
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations (2020) (12)
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome (2004) (12)
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder. (2020) (12)
Presence of a TaqI polymorphism in the human glutamate dehydrogenase (GLUD) gene on chromosome 10. (1987) (12)
Isolation and characterization of cDNA clones for human skeletal muscle alpha actin. (1983) (11)
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy. (1997) (11)
An expanding story (1993) (11)
Fifth international workshop on fragile X and X-linked mental retardation. (1992) (11)
A new MspI restriction fragment length polymorphism in the hemophilia B locus (2004) (11)
A PstI RFLP detected by probe cpX73 (DXS159) in Xq11-q12. (1987) (11)
Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26. (1995) (11)
Sixth international workshop on the fragile X and X-linked mental retardation. (1992) (11)
Towards identification of X-linked mental retardation genes: a proposal. (1994) (10)
Polyglutamine expansions and neurodegenerative diseases. (1996) (10)
Abstracts of workshop presentations (Part 12 of 16) (1987) (10)
STRUCTURAL ORGANIZATION AND EXPRESSION OF OVALBUMIN AND RELATED CHICKEN GENES (1979) (10)
Abstracts of workshop presentations (Part 9 of 13) (1985) (10)
Le point sur le syndrome de Bardet-Biedl (2008) (9)
Regular ArticleThe CEPH Consortium Linkage Map of Human Chromosome 11 (1995) (9)
Report of the committee on the genetic constitution of the X chromosome (Part 7 of 7) (1991) (9)
Adult centronuclear myopathies: A hospital-based study. (2013) (9)
Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing (2014) (9)
Huntingtin--Profit and Loss (2001) (9)
Abstracts of workshop presentations (Part 12 of 13) (1985) (9)
An informative polymorphism detectable by polymerase chain reaction at the 3′ end of the dystrophin gene (2004) (9)
Do G Quartets Orchestrate Fragile X Pathology? (2001) (9)
X-linked adrenoleukodystrophy gene: identification of a candidate gene by positional cloning. (1994) (8)
Report and abstracts of the Fifth International Workshop on Human X Chromosome Mapping 1994. Heidelberg, Germany, April 24-27, 1994. (1994) (8)
Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation. (2004) (8)
cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene (1994) (8)
Abstracts of workshop presentations (Part 15 of 16) (1987) (8)
Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus (2006) (8)
[Update on Bardet-Biedl syndrome]. (2005) (8)
Characterization of RNA synthesized at high ionic strength by rat liver aggregate RNA polymerase. (1969) (8)
9th international workshop on fragile X syndrome and X-linked mental retardation. (2000) (8)
Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites. (1994) (7)
Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12 (2000) (7)
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy (2005) (7)
Linear and extended : a common polyglutamine conformation recognized by the three antibodies MW 1 , 1 C 2 and 3 B 5 H 10 (2013) (7)
The fragile X mutation (1995) (7)
Abstracts of workshop presentations (Part 10 of 16) (1987) (7)
A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome (1989) (7)
Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
Variation on a trinucleotide theme (1999) (6)
A PstI RFLP for the human retinoic acid receptor in 17q21 (1988) (6)
Structural and functional studies on mammalian nuclear DNA-dependent RNA polymerases. (1973) (6)
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization (2022) (6)
Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
Human genetics. Breaking the rule of three. (1997) (5)
A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes (1986) (5)
Abstracts of workshop presentations pp. 948-967 (1989) (5)
An XmnI RFLP at the subtelomeric Xp locus DXS31 [HGM7, LA, 1985]. (1986) (5)
Chromosome localization and polymorphism of an oestrogen-inducible gene specifically expressed in some breast cancers (1988) (4)
Abstracts of workshop presentations (Part 3 of 16) (1987) (4)
Abstracts of workshop presentations (Part 7 of 16) (1987) (4)
Report of the committee on the genetic constitution of the X chromosome (Part 3 of 3) (1989) (4)
Report of the committee on the genetic constitution of the X chromosome (Part 6 of 7) (1991) (4)
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features (2016) (4)
Transcription of double-stranded viral and cellular DNAs by purified mammalian DNA-dependent RNA polymerases. (1974) (4)
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X (2022) (4)
Genome maps III. 1992. Wall Chart. (1992) (4)
Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model (2022) (4)
Ataxie de Friedreich : les expansions de triplets frappent encore (1996) (4)
Abstracts of workshop presentations (Part 1 of 16) (1987) (4)
Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
Microsatellites and disease: a new paradigm. (1993) (4)
Abstracts of workshop presentations (Part 11 of 13) (1985) (3)
Abstracts of workshop presentations (Part 4 of 16) (1987) (3)
Abstracts of workshop presentations (Part 8 of 16) (1987) (3)
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes (2022) (3)
Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker (1988) (3)
STRUCTURE AND EXPRESSION OF OVALBUMIN AND CLOSELY RELATED CHICKEN GENES (1979) (3)
Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
Pathological mechanisms in polyglutamine expansion diseases. (2001) (3)
A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite (1992) (3)
Fragile X mental retardation protein interacts with TDG (2000) (3)
RFLPs for the human erythrocyte membrane glycophorin C gene. (1987) (3)
Syndrôme de Bardet-Biedl : une famille unique pour un gène majeur (BBS10) (2006) (3)
Maladies monogéniques et dysfonctions du système nerveux : progrès et perspectives (1996) (3)
Mutations de l’amphiphysine 2 (BIN1) dans les myopathies centronucléaires récessives (2007) (3)
Abstracts of workshop presentations (Part 4 of 13) (1985) (2)
[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy]. (2007) (2)
Biomedicine. Huntingtin--profit and loss. (2001) (2)
Biomedicine. Do G quartets orchestrate fragile X pathology? (2001) (2)
Abstracts of workshop presentations (Part 11 of 16) (1987) (2)
Hsp 70 and Hsp 40 Chaperones Do Not Modulate Retinal Phenotype in SCA 7 Mice (2004) (2)
Double-Stranded Viral and Cellular DNA's as Templates for Purified Mammalian DNA-Dependent RNA Polymerases (1973) (2)
From hemophilia B to hemophilia A via the fragile X locus: genes and recombination in the distal region of the human X chromosome long arm. (1986) (2)
FMR1 CGG expansion to full mutation: What is the lower limit in premutation females? (2000) (2)
Abstracts of workshop presentations (Part 5 of 16) (1987) (2)
Le syndrome X fragile est encore méconnu: efficacité du diagnostic moléculaire chez les proposants avec retard mental (1997) (2)
Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
Pioglitazone improves deficits of Fmr1-KO mouse model of Fragile X syndrome by interfering with excessive diacylglycerol signaling (2020) (2)
Abstracts of workshop presentations (Part 14 of 16) (1987) (2)
The human genome (1996) (1)
Et de sept : les répétitions nucléotidiques frappent encore ! (1994) (1)
New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus (1990) (1)
Génétique humaine (2019) (1)
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA (2022) (1)
La myopathie myotubulaire (2000) (1)
Le syndrome du retard mental avec X fragile (1996) (1)
Le clonage de la myopathie myotubulaire définit une nouvelle famille de tyrosine phosphatases (1996) (1)
AAV-delivery of diacylglycerol kinase kappa achieves long-term rescue of Fmr1-KO mouse model deficits of fragile X syndrome (2021) (1)
Le syndrome de l'X fragile : des mutations étonnamment ciblées et instables, et un gène à la recherche d'une fonction (1991) (1)
[The progeny of the two protan and deutan families described by Franceschetti and Klein (1949, 1956), one generation later. Genealogy, color vision and genomic DNA]. (1989) (1)
GenIDA : l’histoire naturelle et les comorbidités des troubles du neurodéveloppement d’origine génétique (2021) (1)
Abstracts of workshop presentations (Part 7 of 13) (1985) (1)
Abstracts of workshop presentations (Part 9 of 16) (1987) (1)
Contents Vol. 55, 1990 (1990) (1)
Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unstable CAG repeat expansion (1997) (1)
age of onset . disease : relation to parental transmission and Instability of CAG repeats in Huntington ' s (1)
A probe from an X-Y homology region detects RFLPs in Xq13-q22. (1989) (1)
Génétique humaine (2019) (1)
Abstracts of workshop presentations (Part 6 of 13) (1985) (1)
Attitudes towards genetic information delivered by high-throughput sequencing among clinical molecular Geneticists, genetic counselors, medical advisors and students in France. (2020) (1)
Abstracts of workshop presentations (Part 2 of 13) (1985) (1)
Impaired Sarcoplasmic Reticulum Calcium Release In Skeletal Muscle Fibers From Myotubularin-Deficient Mice (2009) (1)
Abstracts of workshop presentations (Part 5 of 13) (1985) (1)
Abstracts of workshop presentations (Part 16 of 16) (1987) (1)
FRAXAC2 instability (1994) (1)
Sex-specific impact of prenatal androgens on intrinsic functional connectivity between social brain default mode subsystems (2018) (1)
JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009 (2009) (1)
Dernière heure : Maladies neurodégénératives par expansion de polyglutamines : le sixième gène cloné (SCA2) (1996) (1)
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]. (2006) (1)
Le gène de l'ataxie de Friedreich: des applications diagnostiques et une controverse sans fondement. (1997) (1)
Report of the committee on the genetic constitution of the X chromosome (Part 2 of 7) (1991) (0)
Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
Spinocerebellar ataxia type 7 (SCA7) (2020) (0)
[Fragile X syndrome is still unrecognized: efficacy of molecular diagnosis in mentally retarded probands]. (1997) (0)
Report of the committee on the genetic constitution of the X chromosome (Part 3 of 7) (1991) (0)
A new RFLP for D18S3(B74) an anonymous genomic clone localized to 18p113. (1986) (0)
A note on the use of HGML LIT literature file numbers (1989) (0)
Subject index Vol. 46, 1987 (1987) (0)
The telomeric region of the human Presence of a highly polymorphic I of recombination frequency (restriction fragment length polymorphism/genetic linkage/gene clusl (2016) (0)
GENE STRUCTURE AND EXPRESSION IN THE OVALBUMIN GENE FAMILY (1981) (0)
X-linked Nephrogenic Diabetes Insipidus: FromtheShipHopewell toRFLPStudies (1992) (0)
Chromosome 12 Open Reading Frame 58 (2006) (0)
Crystal structure of the Fab FRAGMENT OF 1C2, A MONOCLONAL ANTIBODY SPECIFIC FOR POLY-GLUTAMINE (2013) (0)
Five generations of a protan + deutan family: genealogy, color vision and genomic DNA (1991) (0)
Amanitin binding to RNA polymerase II in alpha-amanitin-resistant rat myoblast mutants. (1977) (0)
PO27 Diagnostic moléculaire simultané de 43 formes monogéniques de diabète et d’obésité : un pas vers la médecine métabolique Personnalisée (2013) (0)
Message des deux présidents (2010) (0)
[Genomic revolution of rare disease diagnosis]. (2012) (0)
Modifications du génome des cellules germinales et de l’embryon humains (2016) (0)
Capture ciblée d’exons de gènes d’ataxie couplée au séquençage à haut débit (2013) (0)
Maladies génétiques et expansions instables de répétitions trinucléotidiques. (1997) (0)
ARCA2 : une nouvelle ataxie cérébelleuse autosomique récessive liée à des mutations du gène ADCK3 (2008) (0)
Annuaire du Collège de France 2008-2009 (2010) (0)
Génétique humaine (2018) (0)
BBS12, une nouvelle protéine verébrée spécifique impliquée dans le syndre de Bardet-Biedl (2008) (0)
La révolution génomique du diagnostic des maladies rares (2012) (0)
Human X Chromosome (2000) (0)
Les rencontres RARE 2017 vues du point de vue de la Fondation Maladies Rares (2018) (0)
Le transfert du gène de l'adrénoleucodysrophie (ALD) au moyen d'un vecteur rétroviral corrige le déficit d'oxydation des acides gras à très longue chaîne dans les fibroblastes de patients ALD: une première étape vers une approche de thérapic génique somatique (1995) (0)
Modifications ciblées ( editing ) du génome par CRISPR-Cas : des applications plausibles aux fantasmes (2016) (0)
Le gène de l'adrénoleucodystrophie pourrait coder pour un transporteur ABC (1993) (0)
Conseil génétique et pathologie neuromusculaire: à propos d'un cas de maladie d'Emery-Dreifuss (1994) (0)
Bases moléculaires de l'ataxie de Friedreich et de l'ataxie par déficit en vitamine E (1996) (0)
The 5th National Colloquium on Neuromuscular Diseases Strasbourg, 21–25 June 1993 (1993) (0)
Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
Editorial Board (2011) (0)
Améliorer l’homme par la génétique ? (2015) (0)
for treating diseases neurodegenerative method using a ic2 antibody, fragment or derivative thereof and corresponding pharmaceutical compositions (1995) (0)
O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome (2023) (0)
Subject Index Vol. 64, 1993 (1993) (0)
Fragment d'acide nucleique de la region du chromosome x implique dans le syndrome x fragile, sonde nucleotidique et procede pour le diagnostic du retard mental avec x fragile (1992) (0)
Index by Abstract Number (1989) (0)
Report of the committee on the genetic constitution of the X chromosome (Part 2 of 3) (1989) (0)
Abstracts of workshop presentations (Part 10 of 13) (1985) (0)
Absence of FMR-1 gene product in human serum and plasma (1994) (0)
Systematic analysis and prediction of genes associated with disorders on chromosome X (2022) (0)
mutation . chromosomes carrying the full and proportion of active X inverse correlation between age carriers of the fragile X syndrome : Selection in blood cells from female (0)
LE SYNDROME DE COFFIN-LOWRY : UNE ANOMALIE DE LA TRANSDUCTION DU SIGNAL (VOIE RAS/MAP KINASE) (1997) (0)
Spatial control of nucleoporin assembly by Fragile X-related proteins (2019) (0)
Report of the committee on the genetic constitution of the X chromosome (Part 5 of 7) (1991) (0)
Localization ofDNA Sequences inRegionXp21ofthe HumanX Chromosome: SearchforMolecular Markers ClosetotheDuchenneMuscular Dystrophy Locus (1985) (0)
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders (2022) (0)
determinant of the transition to full mutation . the fragile X premutation is a major Inheritance of the fragile X syndrome : size of (0)
[Comparative analysis of the costs of cytogenetic techniques and molecular biology techniques in the diagnosis of fragile X disease]. (1995) (0)
Contents, Vol. 46, 1987/ Title Page / Table of Contents (1987) (0)
[Positive control of transcription in eukaryotes]. (1971) (0)
Genetics and Physiopathology of X-linked Mental Retardation (2003) (0)
[Genetic diseases and unstable expansions of trinucleotide repeats]. (1997) (0)
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome (2022) (0)
Genetic Recombination Events Which Position the Friedreich Ataxia Locus Proximal to the D 9 S I 5 / D 9 S 5 Linkage Group on Chromosome 9 q (2006) (0)
P1.45 The phosphoinositide phosphatase myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in muscle (2010) (0)
[23andMed: Geneticist Jean-Louis Mandel's personal experience]. (2015) (0)
Bardet-Biedl Syndrome: Identification of Two New Genes (Bbs10 and Bbs12) Defines a New Vertebrate Specific Chaperonine-Like Family (2007) (0)
39-49 Polyglutamin containing proteins in schizophrenia (1997) (0)
[Mental retardation in fragile X syndrome]. (1996) (0)
Mutational Load in a Series of 140 Bardet Biedl Syndrome Families Mutated in Known BBS Genes (BBS1-BBS12) (2008) (0)
Subject index Vol. 40, 1985 (1985) (0)
Organization of the chicken ovalbumin gene [proceedings]. (1978) (0)
UvA-DARE ( Digital Academic Repository ) Molecular biology and pharmacogenetics of x-linked adrenoleukodystrophy (2012) (0)
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance (2017) (0)
Report of the committee on the genetic constitution of the X chromosome (Part 4 of 7) (1991) (0)
StudyofLargeInbredFriedreich AtaxiaFamilies Reveals a Recombination betweenD9S15andtheDisease Locus (1992) (0)
GENOME ENGINEERING AND GENOME EDITING USING CRISPR/CAS9–RNA-GUIDED NUCLEASE (2019) (0)
Molecular genetics of the fragile-X syndrome: A novel type of unstable mutation selected (1992) (0)
Abstracts of workshop presentations (Part 8 of 13) (1985) (0)
Abstracts of workshop presentations (Part 13 of 16) (1987) (0)
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis (2018) (0)
Index by Keyword (1989) (0)
Author response for "A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome" (2020) (0)
Identification of adrenoleukodystrophy gene and future therapy (1993) (0)
[The RARE 2017 meeting and the French Foundation of Rare Diseases]. (2018) (0)

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