A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.
about
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22Autosomal recessive nonsyndromic deafness genes: a reviewLinkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindredsNonsyndromic hearing impairment: unparalleled heterogeneityMyosin XVA expression in the pituitary and in other neuroendocrine tissues and tumorsGenotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumPendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from IsraelCochlear distribution of Na,K-ATPase and corticosteroid receptors in two mouse strains with congenital hearing disordersRelevance of connexin deafness (DFNB1) to human evolution.Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Fitness among individuals with early childhood deafness: Studies in alumni families from Gallaudet University.A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.Myosin-X functions in polarized epithelial cells.Beginning of a molecular era in hearing and deafness.Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese villagePendred syndrome: evidence for genetic homogeneity and further refinement of linkageAutosomal recessive nonsyndromic hearing loss.Unconventional myosins and the genetics of hearing loss.Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.The use of single-nucleotide polymorphism maps in pharmacogenomics.Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18.Human sequences homologous to the gene for the cochlear protein Ocp-II do not map to currently known non-syndromic hearing loss loci.Population isolates: their special value for locating genes for bipolar disorder.Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian populationGenetic insights into the morphogenesis of inner ear hair cells.The Use of SNPs in Pharmacogenomics Studies.Challenges and solutions for gene identification in the presence of familial locus heterogeneity.Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearingPrioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing lossUSH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees.Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
P2860
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P2860
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A gene for congenital, recessi ...... meric region of chromosome 17.
@ast
A gene for congenital, recessi ...... meric region of chromosome 17.
@en
A gene for congenital, recessi ...... meric region of chromosome 17.
@nl
type
label
A gene for congenital, recessi ...... meric region of chromosome 17.
@ast
A gene for congenital, recessi ...... meric region of chromosome 17.
@en
A gene for congenital, recessi ...... meric region of chromosome 17.
@nl
prefLabel
A gene for congenital, recessi ...... meric region of chromosome 17.
@ast
A gene for congenital, recessi ...... meric region of chromosome 17.
@en
A gene for congenital, recessi ...... meric region of chromosome 17.
@nl
P2093
P356
P1433
P1476
A gene for congenital, recessi ...... meric region of chromosome 17.
@en
P2093
Asher JH Jr
Friedman TB
Hinnant JT
P2888
P356
10.1038/NG0195-86
P407
P577
1995-01-01T00:00:00Z
P6179
1013810564