Hans‐hilger Ropers
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Biology
Hans‐hilger Ropers's Degrees
- PhD Genetics University of Cologne
Why Is Hans‐hilger Ropers Influential?
(Suggest an Edit or Addition)Hans‐hilger Ropers'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
- Deep sequencing reveals 50 novel genes for recessive cognitive disorders (2011) (843)
- X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. (2004) (755)
- X-linked mental retardation (2005) (585)
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation (2009) (582)
- Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes (2010) (447)
- Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. (2007) (390)
- Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation (2000) (370)
- Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus (1995) (364)
- Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. (2005) (363)
- Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. (1996) (355)
- Genetics of early onset cognitive impairment. (2010) (340)
- Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene (1995) (326)
- Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. (2007) (310)
- Cloning of a gene that is rearranged in patients with choroideraemia (1990) (308)
- Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. (2003) (296)
- Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. (2004) (295)
- MECP2 is highly mutated in X-linked mental retardation. (2001) (278)
- Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. (1976) (245)
- A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation (2000) (244)
- The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans (1993) (242)
- Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. (2007) (242)
- Mutations in NSUN2 cause autosomal-recessive intellectual disability. (2012) (240)
- X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes (2015) (229)
- Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. (2010) (224)
- Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (2008) (205)
- Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. (2005) (204)
- The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. (2000) (202)
- High prevalence of SLC6A8 deficiency in X-linked mental retardation. (2004) (196)
- Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS) (1998) (195)
- X-linked mental retardation: many genes for a complex disorder. (2006) (190)
- Genetics of intellectual disability. (2008) (189)
- Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. (2010) (183)
- Epilepsy and mental retardation limited to females: an under-recognized disorder. (2008) (180)
- WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (2010) (176)
- MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation (2001) (174)
- A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. (2007) (174)
- Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. (2000) (173)
- A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome (2006) (170)
- Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome (1983) (162)
- Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein‐1 (REP‐1) gene (1997) (161)
- Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. (1996) (159)
- Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins (1992) (158)
- Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation (2003) (158)
- Comparative study of methyl-CpG-binding domain proteins (2003) (153)
- Cloning and characterization of the human choroideremia gene. (1994) (152)
- Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. (2008) (149)
- Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1. (2001) (148)
- FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation (2002) (144)
- A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. (2008) (142)
- RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. (1999) (140)
- Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. (2009) (136)
- De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome (2013) (134)
- High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease (2008) (134)
- A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation (2009) (132)
- New perspectives for the elucidation of genetic disorders. (2007) (130)
- Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. (1984) (128)
- Genetics of intellectual disability in consanguineous families (2019) (127)
- Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation (2007) (124)
- Gene Expression Changes in the Course of Neural Progenitor Cell Differentiation (2004) (121)
- Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. (2004) (119)
- Genetics of recessive cognitive disorders. (2014) (117)
- Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci (2007) (112)
- Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation (2006) (110)
- Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium (2007) (109)
- Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon (2003) (109)
- An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. (1996) (105)
- CGHPRO – A comprehensive data analysis tool for array CGH (2005) (104)
- Formation of higher-order nuclear Rad51 structures is functionally linked to p21 expression and protection from DNA damage-induced apoptosis. (2002) (102)
- Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. (2003) (102)
- Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly (2005) (101)
- Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. (1997) (99)
- Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome (2005) (98)
- Mutations in the MEN I gene in sporadic neuroendocrine tumours of gastroenteropancreatic system (1997) (96)
- A clinical and molecular genetic study of 112 Iranian families with primary microcephaly (2010) (95)
- ST3GAL3 mutations impair the development of higher cognitive functions. (2011) (94)
- Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity (2004) (93)
- Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. (1989) (93)
- Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation (2016) (89)
- CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. (2013) (89)
- A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. (2012) (88)
- Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. (2011) (87)
- gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. (1999) (86)
- ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. (2006) (86)
- Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome (2003) (85)
- Nonsyndromic X-linked mental retardation: where are the missing mutations? (2003) (84)
- SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly (2006) (83)
- Detection of mitochondrial single nucleotide polymorphisms using a primer elongation reaction on oligonucleotide microarrays. (2001) (81)
- A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. (1995) (79)
- Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome (2003) (79)
- Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. (1986) (77)
- Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans (2011) (77)
- Presymptomatic diagnosis of myotonic dystrophy. (1992) (74)
- Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome (2008) (73)
- A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. (2001) (73)
- Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. (1996) (72)
- Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care. (1999) (72)
- Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome (2007) (71)
- On the future of genetic risk assessment (2012) (70)
- Chromosome deletions in 13q33–34: Report of four patients and review of the literature (2008) (70)
- Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation (2005) (69)
- Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. (1997) (69)
- Gene expression profile of mouse bone marrow stromal cells determined by cDNA microarray analysis (2003) (68)
- Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription. (1996) (68)
- Evidence against a major role of PEG1/MEST in Silver–Russell syndrome (1998) (67)
- MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression (2008) (67)
- Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing (2010) (66)
- Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum (2014) (65)
- ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. (2013) (65)
- Molecular characterisation of antidepressant effects in the mouse brain using gene expression profiling. (2002) (64)
- Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. (1996) (64)
- Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. (1995) (63)
- An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. (1992) (62)
- Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q (1993) (62)
- Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome (2008) (60)
- Different molecular mechanisms underlie placental overgrowth phenotypes caused by interspecies hybridization, cloning, and Esx1 mutation (2004) (60)
- TRPV1 acts as a synaptic protein and regulates vesicle recycling (2010) (59)
- Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay (2007) (58)
- Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome (1985) (58)
- Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. (1990) (57)
- Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (2012) (57)
- Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots (2011) (56)
- A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19. (1989) (55)
- Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. (1988) (55)
- Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain. (2001) (54)
- Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3). (1999) (54)
- The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families (2015) (53)
- Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). (1994) (52)
- Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). (1996) (52)
- Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function (2010) (52)
- Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues. (2004) (52)
- A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH (2007) (52)
- Cloning and characterization of UXT, a novel gene in human Xp11, which is widely and abundantly expressed in tumor tissue. (1999) (51)
- UniGene cDNA array-based monitoring of transcriptome changes during mouse placental development (2001) (51)
- X-linked steroid sulfatase: Evidence for different gene-dosage in males and females (2004) (51)
- Redefining the MED13L syndrome (2015) (50)
- Breakpoints around the HOXD cluster result in various limb malformations (2005) (50)
- A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation (2010) (50)
- Preferential X inactivation in human placenta membranes: Is the paternal X inactive in early embryonic development of female mammals? (1978) (50)
- A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family (2011) (49)
- Effect of inbreeding on intellectual disability revisited by trio sequencing (2018) (49)
- A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation (2002) (48)
- Evidence for preferential X-chromosome inactivation in a family with Fabry disease. (1977) (47)
- Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region (2007) (47)
- Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1. (1999) (46)
- Progressive myoclonus epilepsy (1979) (46)
- MECP 2 is highly mutated in X-linked mental retardation (2001) (42)
- Derivatives of somatic cell hybrids which carry the human gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors. (1990) (41)
- Isolation and characterization of alphoid DNA sequences specific for the pericentric regions of chromosomes 4, 5, 9, and 19. (1988) (41)
- Characterization of interstitial Xp duplications in two families by tiling path array CGH (2008) (41)
- Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy (1989) (40)
- Cytogenetic and biochemical differences between Apodemus sylvaticus and Apodemus flavicollis, possibly responsible for the failure to interbreed. (1973) (40)
- Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene (2006) (40)
- Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel. (1992) (40)
- X inactivation patterns in two syndromes with probable X‐linked dominant, male lethal inheritance (1985) (39)
- Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant aicardi's syndrome) in a girl with balanced X/3 translocation (2004) (39)
- X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq (2004) (38)
- Variants in CUL4B are Associated with Cerebral Malformations (2015) (38)
- Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy (2005) (37)
- Classical and Molecular Cytogenetics of the Pufferfish Tetraodon Nigroviridis (2004) (37)
- Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation (2013) (37)
- BOD1 Is Required for Cognitive Function in Humans and Drosophila (2016) (36)
- Integrated Sequence Analysis Pipeline Provides One‐Stop Solution for Identifying Disease‐Causing Mutations (2014) (35)
- Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus. (1991) (34)
- Divergent genetic and epigenetic post‐zygotic isolation mechanisms in Mus and Peromyscus (2004) (34)
- A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C (2010) (34)
- An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region (1987) (32)
- Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis (2003) (32)
- High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations (2011) (32)
- The molecular basis of X‐linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation (1997) (32)
- Somatic Pairing Between Subtelomeric Chromosome Regions: Implications for Human Genetic Disease? (2004) (32)
- Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22. (2000) (32)
- Deletion of the DXS165 locus in patients with classical Choroideremia (1987) (31)
- Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression? (2001) (31)
- BRCA1-mediated repression of select X chromosome genes (2004) (31)
- Preparative dual-beam sorting of the human Y chromosome and in situ hybridization of cloned DNA probes. (1984) (30)
- Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome (2004) (30)
- Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. (1995) (30)
- Four-hundred million years of conserved synteny of human Xp and Xq genes on three Tetraodon chromosomes. (2002) (29)
- Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. (2015) (29)
- Identification of apolipoprotein E polymorphism by using synthetic oligonucleotides. (1988) (28)
- Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region. (1992) (28)
- Physical mapping of DNA markers in the q13-q22 region of the human X chromosome. (1993) (28)
- Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome. (1986) (28)
- Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis (2009) (27)
- Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness (2014) (27)
- Characterization of FBX25, encoding a novel brain-expressed F-box protein. (2006) (27)
- Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome (2003) (27)
- CARRIER DETECTION IN DUCHENNE MUSCULAR DYSTROPHY BY USE OF CLONED DNA SEQUENCES (1983) (26)
- Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. (2006) (26)
- Assignment of the gene coding for human catalase to the short arm of chromosome 11. (1980) (26)
- Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. (2015) (25)
- A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2 (2006) (25)
- Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 (2011) (25)
- Regional assignment of the gene locus for steroid sulfatase (2004) (25)
- Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11 (2010) (25)
- Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation (2017) (24)
- X-linked mental retardation: transmission of the trait by an apparently unaffected male. (1978) (23)
- Lchthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing * (1984) (23)
- The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK (1988) (23)
- Abstracts of workshop presentations (Part 13 of 13) (1985) (23)
- Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever (1994) (22)
- Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. (1994) (22)
- Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene (2003) (22)
- Common pathological mutations in PQBP1 induce nonsense‐mediated mRNA decay and enhance exclusion of the mutant exon (2010) (22)
- Assignment of the human aminopeptidase N (peptidase E) gene to chromosome 15q13‐qter (1988) (21)
- Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. (2008) (21)
- Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation (1992) (21)
- Single gene disorders come into focus - again (2010) (21)
- Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder (2019) (21)
- Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. (2015) (20)
- The poliovirus sensitivity (PVS) gene is on chromosome 19q12----q13.2. (1988) (20)
- HETEROZYGOTE DETECTION IN STEROID SULPHATASE DEFICIENCY (1980) (20)
- Abstracts of workshop presentations (Part 2 of 16) (1987) (20)
- DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements (2001) (20)
- The ins and outs of X-linked deafness type 3. (2000) (20)
- Steroid sulfatase activity in cultured fibroblasts of XX males. (1981) (20)
- Abstracts of workshop presentations (Part 6 of 16) (1987) (19)
- Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome (2004) (19)
- Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations (2013) (19)
- Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. (2019) (19)
- An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4 (2009) (19)
- A high-resolution interval map of the q21 region of the human X chromosome. (1995) (19)
- A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family (2013) (19)
- Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia (2014) (19)
- Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome (2001) (19)
- Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement (2010) (19)
- A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. (2019) (18)
- Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase (1979) (18)
- Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. (2009) (18)
- X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11 (2007) (18)
- Ca++/CaMKII switches nociceptor‐sensitizing stimuli into desensitizing stimuli (2012) (18)
- The MAS proto-oncogene is not imprinted in humans. (1996) (18)
- On the incidence of unilateral and bilateral colour blindness in heterozygous females (1978) (18)
- Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH (2007) (18)
- Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. (1994) (17)
- Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration (2015) (17)
- Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). (2002) (17)
- Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait (2015) (17)
- X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome (2004) (17)
- cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. (2004) (16)
- Novel GDI1 mutation in a large family with nonsyndromic X‐linked intellectual disability (2011) (16)
- Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. (1989) (16)
- Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression. (1998) (16)
- Genetic and physical demarcation of the locus for dystrophia myotonica. (1988) (15)
- POLRMT mutations impair mitochondrial transcription causing neurological disease (2021) (15)
- Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization (2009) (15)
- Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations (2004) (15)
- Assignment of the gene for human glucose dehydrogenase (E.C. 1.1.1.47) to chromosome 1 using somatic cell hybrids. (1978) (15)
- Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3 (2006) (15)
- Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome (1983) (15)
- Evidence for X-linkage and non-inactivation of steroid sulphatase locus in wood lemming (1982) (15)
- Differences in the pattern of X-linked gene expression between fetal bovine muscle and fibroblast cultures derived from the same muscle biopsies (2005) (15)
- Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences (2006) (14)
- Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1 (1993) (14)
- A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia (2008) (14)
- Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. (1990) (14)
- Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease. Transmission through several generations in two families. (1975) (13)
- Inheritance of the S-Form of NADP-Dependent Isocitrate Dehydrogenase Polymorphism in Rainbow Trout (1973) (13)
- Abstracts of workshop presentations (Part 1 of 13) (1985) (13)
- Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy. (1982) (13)
- Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis (2004) (12)
- Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males (2005) (12)
- Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q (1987) (12)
- 4q35 deletion and 10p15 duplication associated with immunodeficiency (2006) (11)
- Biallelic missense variants in ZBTB11 can cause intellectual disability in humans (2018) (11)
- Adrenoleukodystrophy: diagnosis and carrier detection by determination of long‐chain fatty acids in cultured fibroblasts (1982) (11)
- Cloning of the breakpoints of a deletion associated with choroideremia (1990) (11)
- Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families. (1994) (11)
- Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris (2005) (11)
- Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells. (2002) (11)
- Definition of subchromosomal intervals around the myotonic dystrophy locus at 19q. (1989) (10)
- Abstracts of workshop presentations (Part 12 of 16) (1987) (10)
- Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia. (2015) (10)
- Abstracts of workshop presentations (Part 9 of 13) (1985) (10)
- Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion (2006) (10)
- DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner. (2000) (10)
- Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. (2007) (10)
- Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome (2004) (10)
- Fabry's disease: Heterozygote detection by hair root analysis (1976) (9)
- Norrie's disease: delineation of carriers among daughters of obligate carriers by linkage analysis. (1986) (9)
- Rede fi ning the MED 13 L syndrome (2015) (9)
- A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders. (2009) (9)
- New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. (2015) (9)
- [Propionic acidemia associated with hypertrophic pyloric stenosis and bouts of severe hyperglycemia (author's transl)]. (1980) (9)
- Mendelian and polygenic inheritance of intelligence: A common set of causal genes? Using next-generation sequencing to examine the effects of 168 intellectual disability genes on normal-range intelligence (2015) (9)
- Abstracts of workshop presentations (Part 12 of 13) (1985) (9)
- A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region (1999) (9)
- On the molecular basis of Sandhoff's disease (2004) (8)
- GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability (2018) (8)
- Tentative evidence for 3–4 haematopoetic stem cells in man (1977) (8)
- Mapping and cloning hereditary deafness genes. (1995) (8)
- Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies (1994) (8)
- Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris (2004) (8)
- Abstracts of workshop presentations (Part 15 of 16) (1987) (8)
- CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability (2018) (8)
- Abstracts of workshop presentations (Part 10 of 16) (1987) (7)
- Dominant optic atrophy with sensorineural hearing loss (1982) (7)
- Genetics of Mental Retardation (2007) (7)
- Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects (2011) (7)
- Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2. (1994) (7)
- Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
- Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2. (1992) (6)
- Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB) (2004) (6)
- Flow cytometric characterization of a Chinese hamster x man hybrid cell line retaining the human Y chromosome (1982) (6)
- A locus at 19cen-19q13.2 (D19S15) containing three RFLPs linked to myotonic dystrophy (DM) is recognized by probe pJSB6. (1987) (6)
- Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23) (2008) (6)
- EcoRI RFLP at 19 cen-q13.2 identified by the anonymous DNA sequence pPM6.7 (D19S18). (1987) (6)
- Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides (1988) (6)
- Homozygous variants in the gene SCAPER cause syndromic intellectual disability (2019) (5)
- Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13) (2004) (5)
- Cosegregation of T108A Elk-1 with mental retardation. (2000) (5)
- Abstracts of workshop presentations pp. 948-967 (1989) (5)
- X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder (1993) (5)
- Alopecia–mental retardation syndrome: clinical and molecular characterization of four patients (2008) (5)
- 11q14.1‐11q22.1 deletion in a 1‐year‐old male with minor dysmorphic features (2010) (5)
- Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations (2014) (5)
- Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
- On the Genetic Interpretation of the 6 ‐Phosphogluconate‐Dehydrogenase‐Isozymes in Man 1 (1970) (4)
- Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families (2019) (4)
- Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
- Evidence that the Menkes locus maps on proximal Xp (2004) (4)
- Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C) (2017) (4)
- Erratum to the report of the third international workshop on human Y chromosome mapping 1997 (1997) (4)
- Abstracts of workshop presentations (Part 3 of 16) (1987) (4)
- On the genetic length of the short arm of the human X chromosome (2004) (4)
- Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
- Abstracts of workshop presentations (Part 1 of 16) (1987) (4)
- Abstracts of workshop presentations (Part 7 of 16) (1987) (4)
- Abstracts of workshop presentations (Part 8 of 16) (1987) (3)
- Distribution of G6PD phenotypes in red blood cells of Southern African Negroids: Evidence for somatic selection (1978) (3)
- Simplified methods for the measurement and electrophoretic demonstration of hypoxanthine-guanine phosphoribosyl transferase (2005) (3)
- TaqI RFLP at 19q13.1 identified by the anonymous DNA sequence p5B18 [D19S28]. (1989) (3)
- Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations (2000) (3)
- Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
- Physical fine-mapping of a deletion spanning the Norrie gene (1989) (3)
- A highly polymorphic microsatellite marker located within the choroideremia gene. (1996) (3)
- Abstracts of workshop presentations (Part 11 of 13) (1985) (3)
- Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients (2020) (3)
- Abstracts of workshop presentations (Part 4 of 16) (1987) (3)
- Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals (2012) (2)
- Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
- MspI RFLP at 19cen-q12 identified by the anonymous DNA sequence pPM17.4 [D19S29]. (1989) (2)
- Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family—The Role of Next Generation Sequencing in Neuromuscular Disorders (2019) (2)
- Abstracts of workshop presentations (Part 4 of 13) (1985) (2)
- Abstracts of workshop presentations (Part 14 of 16) (1987) (2)
- A R T Ic L E (2017) (2)
- Abstracts of workshop presentations (Part 11 of 16) (1987) (2)
- [Genetics of 6-phosphogluconate dehydrogenase (EC:1.1.1.44): a new variant F (Freiburg)]. (1970) (2)
- solation of Two Novel Human RhoGEFs , ARHGEF 3 nd ARHGEF 4 , in 3 p 13-21 and 2 q 22 (2000) (2)
- Abstracts of workshop presentations (Part 5 of 16) (1987) (2)
- A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q. (2020) (2)
- Growth hormone expression on mRNA level is significantly reduced in the brain of Ndp-knockout-mice. (2002) (1)
- Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: A delayed mutation? (1979) (1)
- Abstracts of workshop presentations (Part 5 of 13) (1985) (1)
- Contents Vol. 55, 1990 (1990) (1)
- Abstracts of workshop presentations (Part 6 of 13) (1985) (1)
- Exclusion of the biglycan (BGN) gene as a candidate gene for the Happle syndrome, employing an intragenic single-strand conformational polymorphism (1993) (1)
- An NcoI restriction fragment length polymorphism at the human steroid sulphatase gene locus (1990) (1)
- Congenital Muscular Dystrophy-Dystroglycanopathy (MDDGA1) in a Consanguineous Family with Compound Heterozygous Mutations of the POMT1 Gene and Variable Clinical Severity (2016) (1)
- Massively parallel sequencing in >250 families with X-linked intellectual disability (2011) (1)
- Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature (2010) (1)
- The presence of androgen-binding receptors in genital and nongenital skin fibroblasts (1980) (1)
- Abstracts of workshop presentations (Part 16 of 16) (1987) (1)
- CLONED GENE PROBES FOR CARRIER DETECTION IN MUSCULAR DYSTROPHY (1983) (1)
- A subtelomeric cryptic unbalanced translocation der (1)t(1;18)(q44;q23) in a severely retarded girl: similarities and differences to the deletion 1q42/43-ter syndrome (2001) (1)
- Abstracts of workshop presentations (Part 2 of 13) (1985) (1)
- Abstracts of workshop presentations (Part 9 of 16) (1987) (1)
- Abstracts of workshop presentations (Part 7 of 13) (1985) (1)
- Variable composition of X chromosomal mosaics: Due to asynchronous cell division during early embryogenesis? (1977) (1)
- Standard chromosome nomenclature (1981) (0)
- Index by Keyword (1989) (0)
- ZNF674: a new KRAB-containing zinc finger gene involved in non-syndromic X-linked mental retardation (2006) (0)
- A New Form of a Mitochondriopathy (2014) (0)
- Abstracts of workshop presentations (Part 13 of 16) (1987) (0)
- A gene for hereditary non-chromaffin paragangliomas, a disorder subject to genomic imprinting, maps at 11q13.1 (1996) (0)
- [Color blindness: in high school students less often than in elementary school pupils]. (1976) (0)
- Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C) (2016) (0)
- The recombinant DNA revolution: implications for diagnosis and prevention of inherited disease. (1989) (0)
- Abstracts of papers presented at the Mammalian Genetics Group meeting held in the Linnean Society Rooms, Piccadilly, London, on 28 and 29 November 1985 (2008) (0)
- Identification and characterization of new mental retardation genes linked to the X chromosome (2005) (0)
- Eleventh International Chromosome Conference (2004) (0)
- within the choroideremia gene A highly polymorphic microsatellite marker located (1996) (0)
- A model for the initiation and progression of non-chromaffin paragangliomas: An autosomal dominant disorder with genetic heterogeneity and genomic imprinting (1994) (0)
- [Normal activity of hypoxanthine-guanine-phosphoribosyl transferase in adults with primary gout]. (1973) (0)
- The 36th American Cytogenetics Conference (2000) (0)
- MspI RFLP at 19q12-q13.1 identified by the anonymous DNA sequence p20B18 [D19S30]. (1989) (0)
- horm one receptor gene (1995) (0)
- Identification of candidate genes in patients with amyotrophic lateral sclerosis by breakpoint characterisation (2005) (0)
- An EcoRV RFLP detected by probe pX59 [DXS77]. (1989) (0)
- X-linked gene expression analysis in domestic cattle using human X chromosome-specific cDNA microarrays (2003) (0)
- Subject index Vol. 40, 1985 (1985) (0)
- Editorial help (2004) (0)
- Mutation spectrum of the choroideremia gene and cloning of a highly homologous gene from chromosome 1 (1992) (0)
- Abstracts of workshop presentations (Part 8 of 13) (1985) (0)
- Array CGH of ALS patients – new candidate genes (2006) (0)
- {open_quotes}Unspecific{close_quotes} X-linked mental retardation: Clinical, genetic and molecular studies (1994) (0)
- Brief Gene Mapping Reports A / B / C / D / E (2005) (0)
- Adrenal insufficiency,myopathic hypotonia,severe psychomotor retardation,failure to thrive,fatty liver, megalocornea,chronic constipation and terminal bladder ectasia in 2 brothers (1979) (0)
- Contents, Vol. 46, 1987/ Title Page / Table of Contents (1987) (0)
- The Norrie Disease Gene: Positional Cloning, Mutation Analysis and Protein Homologies (1993) (0)
- MspI RFLP at 19q12-q13.1 identified by the anonymous DNA sequence p30B18 [D19S31]. (1989) (0)
- A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 (2003) (0)
- Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability (2020) (0)
- Fetal Determinants of Adult Health (2002) (0)
- Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (2022) (0)
- Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (2021) (0)
- Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
- Molecular elucidation of hereditary eye diseases: pivotal role of the clinician. (1997) (0)
- Subject Index, Vol. 79, 1997 (1997) (0)
- A note on the use of HGML LIT literature file numbers (1989) (0)
- Report of a family affected with autism and non syndromic intellectual disability caused by a mutation in PTCHD1, an X-linked gene coding for a transmembrane protein expressed in postsynaptic dendritic spines (2013) (0)
- Update on X-linked intellectual disability (2015) (0)
- A Novel Phenotype: Microcephaly, Intellectual Disability, and Mid-hindbrain Defect (2014) (0)
- Reply to Mandel. (2004) (0)
- On the future of genetic risk assessment (2012) (0)
- X-linked recessive ichthyosis and autosomal dominant ichthyosis segregating in the same family (1981) (0)
- Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
- EcoRI RFLP at 19q13.1 identified by the anonymous DNA sequence p58B18 [D19S32]. (1989) (0)
- Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1 (1994) (0)
- Index by Abstract Number (1989) (0)
- Abstracts of workshop presentations (Part 10 of 13) (1985) (0)
- University of Dundee BOD 1 Is Required for Cognitive Function in Humans and Drosophila (2016) (0)
- Rare diseases: human genome research is coming home (2022) (0)
- A Search for XY Homology (1984) (0)
- Subject index Vol. 46, 1987 (1987) (0)
- Molecular characterization of x linked deletions and duplications employing conventional southern analysis and long range restriction mapping (1987) (0)
- De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome (2013) (0)
- [The formal genetics of 6-phosphogluconate dehydrogenase (EC:1.1.1.44); a study of 220 families]. (1969) (0)
- Contents, Vol. 79, 1997 (1997) (0)
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