| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1013810564 |
| P356 | DOI | 10.1038/NG0195-86 |
| P698 | PubMed publication ID | 7704031 |
| P2093 | author name string | Liang Y | |
| Weber JL | |||
| Asher JH Jr | |||
| Arhya IN | |||
| Barber TD | |||
| Friedman TB | |||
| Hinnant JT | |||
| Winata S | |||
| P2860 | cites work | Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene | Q24324233 |
| A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene | Q28240043 | ||
| High-density genetic map of the BRCA1 region of chromosome 17q12-q21 | Q28256543 | ||
| Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children | Q29615807 | ||
| A myelin protein is encoded by the homologue of a growth arrest-specific gene | Q33265412 | ||
| Mutation of human short tandem repeats | Q34357335 | ||
| Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers | Q34521429 | ||
| A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. | Q39035915 | ||
| Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling | Q42619572 | ||
| Trembler mouse carries a point mutation in a myelin gene | Q43987147 | ||
| Know thy genome | Q48081488 | ||
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| Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome | Q55670940 | ||
| DNA deletion associated with hereditary neuropathy with liability to pressure palsies | Q55670941 | ||
| Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland | Q55671005 | ||
| Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene | Q57199260 | ||
| The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A | Q67482921 | ||
| Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit | Q67482959 | ||
| Genetics of Congenital Deafness | Q71013919 | ||
| Multicolor FISH mapping with Alu-PCR-amplified YAC clone DNA determines the order of markers in the BRCA1 region on chromosome 17q12-q21 | Q72617856 | ||
| A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21 | Q72617858 | ||
| Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping | Q72702989 | ||
| Hereditary deaf mutism, with particular reference to Northern Ireland | Q73926135 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | deafness | Q12133 |
| congenital disorder | Q727096 | ||
| P304 | page(s) | 86-91 | |
| P577 | publication date | 1995-01-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. | |
| P478 | volume | 9 |
| Q57339572 | A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23 |
| Q30490278 | A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart |
| Q36687516 | A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees. |
| Q24517942 | A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22 |
| Q58805948 | A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report |
| Q30501423 | A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness |
| Q24675914 | An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds |
| Q34389797 | Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18. |
| Q36834193 | Auditory transduction in the mouse |
| Q50516927 | Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. |
| Q24611997 | Autosomal recessive nonsyndromic deafness genes: a review |
| Q33855114 | Autosomal recessive nonsyndromic hearing loss |
| Q33544009 | Basic concepts in the study of diseases with complex genetics |
| Q33639128 | Beginning of a molecular era in hearing and deafness |
| Q47304921 | Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). |
| Q34737921 | Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder |
| Q96817105 | Blast-induced hearing impairment in rats is associated with structural and molecular changes of the inner ear |
| Q92074307 | Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period |
| Q35959689 | Challenges and solutions for gene identification in the presence of familial locus heterogeneity |
| Q57304672 | Chapter 22: Molecular Basis of Deafness due to Mutations in the Connexin26 Gene (GJB2) |
| Q24336077 | Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus |
| Q24316903 | Cloning of the genes encoding two murine and human cochlear unconventional type I myosins |
| Q28587764 | Cochlear distribution of Na,K-ATPase and corticosteroid receptors in two mouse strains with congenital hearing disorders |
| Q35249470 | Confirmation of a double-hit model for the NF1 gene in benign neurofibromas |
| Q33676549 | Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village |
| Q41091624 | Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing |
| Q50300924 | Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness |
| Q30477741 | Fitness among individuals with early childhood deafness: Studies in alumni families from Gallaudet University |
| Q72036202 | Gene linkage and genetic deafness |
| Q41244075 | Genes responsible for human hereditary deafness: symphony of a thousand |
| Q38843432 | Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss |
| Q39442480 | Genetic causes of moderate to severe hearing loss point to modifiers |
| Q37782545 | Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations |
| Q50517498 | Genetic hearing loss. Past and future. |
| Q38558726 | Genetic hearing loss: the journey of discovery to destination - how close are we to therapy? |
| Q35813847 | Genetic insights into the morphogenesis of inner ear hair cells. |
| Q34385027 | Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. |
| Q46633899 | Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. |
| Q41103360 | Genetics of deafness |
| Q64070569 | Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss |
| Q28252393 | Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum |
| Q34063989 | Genotyping for human whole-genome scans: past, present, and future |
| Q57284005 | Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss |
| Q38235746 | Hearing molecules, mechanism and transportation: modeled in Drosophila melanogaster |
| Q30244548 | Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review |
| Q35550640 | Human Nonsyndromic Sensorineural Deafness |
| Q34416321 | Human inner ear OCP2 cDNA maps to 5q22-5q35.2 with related sequences on chromosomes 4p16.2-4p14, 5p13-5q22, 7pter-q22, 10 and 12p13-12qter |
| Q43966036 | Human myosin XVBP is a transcribed pseudogene |
| Q34407010 | Human sequences homologous to the gene for the cochlear protein Ocp-II do not map to currently known non-syndromic hearing loss loci |
| Q36107256 | Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing |
| Q30404099 | Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss |
| Q77525543 | Ionizing radiation and genetic risks IX. Estimates of the frequencies of mendelian diseases and spontaneous mutation rates in human populations: a 1998 perspective |
| Q24675154 | Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3 |
| Q50516919 | Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. |
| Q41891705 | Linkage study of DFNB3 responsible for hearing loss in human |
| Q41665497 | Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations |
| Q34138454 | Localization of myosin XVA in endocrine tumors of gut and pancreas |
| Q71131060 | Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32 |
| Q38885154 | Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness |
| Q34634062 | Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. |
| Q33911494 | Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. |
| Q36930179 | Mutations of human TMHS cause recessively inherited non-syndromic hearing loss |
| Q39005661 | MyTH4-FERM myosins in the assembly and maintenance of actin-based protrusions |
| Q24685752 | Myosin XVA expression in the pituitary and in other neuroendocrine tissues and tumors |
| Q30513859 | Myosin-X functions in polarized epithelial cells |
| Q60307553 | Non-Syndromic Hearing Loss and High-Throughput Strategies to Decipher Its Genetic Heterogeneity |
| Q41364778 | Non-syndromic dominant sensorineural hearing loss: from a few phenotypes to many genotypes |
| Q28290197 | Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel |
| Q24680416 | Nonsyndromic hearing impairment: unparalleled heterogeneity |
| Q28278772 | Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4 |
| Q33678412 | Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage |
| Q42559033 | Persistence and transmission of recessive deafness and sign language: new insights from village sign languages |
| Q40930127 | Polygenic disease: methods for mapping complex disease traits |
| Q34530077 | Population isolates: their special value for locating genes for bipolar disorder |
| Q36501153 | Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss |
| Q28769547 | Relevance of connexin deafness (DFNB1) to human evolution |
| Q90446146 | Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations |
| Q55459805 | Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. |
| Q37231122 | Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family |
| Q71917074 | Sensorineural hearing loss in children |
| Q36119739 | The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing |
| Q35950342 | The Use of SNPs in Pharmacogenomics Studies. |
| Q50456211 | The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. |
| Q35643624 | The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population |
| Q33681170 | The essence of SNPs |
| Q33631106 | The role of mouse mutants in the identification of human hereditary hearing loss genes |
| Q33913441 | The use of single-nucleotide polymorphism maps in pharmacogenomics |
| Q50507810 | Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. |
| Q36680172 | USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. |
| Q33855126 | Unconventional myosins and the genetics of hearing loss |
| Q55670476 | Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness |
| Q50507468 | Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders. |
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