Autosomal recessive nonsyndromic deafness genes: a review
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Genetics of vestibular disorders: pathophysiological insightsThe Genetics of Deafness in Domestic AnimalsGenetics of hearing loss in Africans: use of next generation sequencing is the best way forwardAberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing lossComprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohortA Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic FamilyNovel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Similar phenotypes caused by mutations in OTOG and OTOGL.Hearing impairment and language delay in infants: Diagnostics and genetics.The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossWhole-exome sequencing and its impact in hereditary hearing lossTip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria.Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyComprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.In vivo vibrometry inside the apex of the mouse cochlea using spectral domain optical coherence tomography.MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activityMutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.Genotype phenotype correlations for hearing impairment: approaches to management.Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss.The genetics of hair-cell function in zebrafish.Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations.Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.High-Resolution Genetic Maps Identify Multiple Type 2 Diabetes Loci at Regulatory Hotspots in African Americans and Europeans.Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.Zucker diabetic fatty rats, a model for type 2 diabetes, develop an inner ear dysfunction that can be attenuated by losartan treatment.Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing.Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention.Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report
P2860
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P2860
Autosomal recessive nonsyndromic deafness genes: a review
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2012 nî lūn-bûn
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2012 թուականին հրատարակուած գիտական յօդուած
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2012 թվականին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
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2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
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name
Autosomal recessive nonsyndromic deafness genes: a review
@ast
Autosomal recessive nonsyndromic deafness genes: a review
@en
Autosomal recessive nonsyndromic deafness genes: a review
@nl
type
label
Autosomal recessive nonsyndromic deafness genes: a review
@ast
Autosomal recessive nonsyndromic deafness genes: a review
@en
Autosomal recessive nonsyndromic deafness genes: a review
@nl
prefLabel
Autosomal recessive nonsyndromic deafness genes: a review
@ast
Autosomal recessive nonsyndromic deafness genes: a review
@en
Autosomal recessive nonsyndromic deafness genes: a review
@nl
P2860
P3181
P356
P1476
Autosomal recessive nonsyndromic deafness genes: a review
@en
P2093
Duygu Duman
Mustafa Tekin
P2860
P304
P3181
P356
10.2741/4046
P407
P577
2012-01-01T00:00:00Z