Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
about
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss familyFAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessExome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese familyHomozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairmentGenetics of Nonsyndromic Congenital Hearing LossThe future role of genetic screening to detect newborns at risk of childhood-onset hearing lossGenetics of hearing and deafnessStrategy for the customized mass screening of genetic sensorineural hearing loss in koreans.The application of genome editing in studying hearing lossAllele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)Newborn genetic screening for hearing impairment: a preliminary study at a tertiary centerDifferences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and miceGJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing LossLong-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 MutationsDissecting the molecular basis of organ of Corti development: Where are we now?Rare variants create synthetic genome-wide associationsHeterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.Severe to profound deafness may be associated with MYH9-related disease: report of 4 patientsA novel dominant GJB2 (DFNA3) mutation in a Chinese family.A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.Mutations in LOXHD1 gene cause various types and severities of hearing loss.Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platformDiagnostic application of targeted resequencing for familial nonsyndromic hearing loss.Actin in hair cells and hearing loss.Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
P2860
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P2860
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Forty-six genes causing nonsyn ...... e analyzed in DNA diagnostics?
@ast
Forty-six genes causing nonsyn ...... e analyzed in DNA diagnostics?
@en
type
label
Forty-six genes causing nonsyn ...... e analyzed in DNA diagnostics?
@ast
Forty-six genes causing nonsyn ...... e analyzed in DNA diagnostics?
@en
prefLabel
Forty-six genes causing nonsyn ...... e analyzed in DNA diagnostics?
@ast
Forty-six genes causing nonsyn ...... e analyzed in DNA diagnostics?
@en
P2860
P1433
P1476
Forty-six genes causing nonsyn ...... e analyzed in DNA diagnostics?
@en
P2093
Nele Hilgert
P2860
P304
P356
10.1016/J.MRREV.2008.08.002
P407
P577
2008-08-29T00:00:00Z