Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.
about
Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.Sensorineural Hearing Loss: A Changing Paradigm for Its Evaluation.NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of CareDNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.Hereditary hearing loss SNP-microarray pilot study.
P2860
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P2860
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Targeted next-generation seque ...... ncovers informative mutations.
@ast
Targeted next-generation seque ...... ncovers informative mutations.
@en
Targeted next-generation seque ...... ncovers informative mutations.
@nl
type
label
Targeted next-generation seque ...... ncovers informative mutations.
@ast
Targeted next-generation seque ...... ncovers informative mutations.
@en
Targeted next-generation seque ...... ncovers informative mutations.
@nl
prefLabel
Targeted next-generation seque ...... ncovers informative mutations.
@ast
Targeted next-generation seque ...... ncovers informative mutations.
@en
Targeted next-generation seque ...... ncovers informative mutations.
@nl
P2093
P2860
P356
P1433
P1476
Targeted next-generation seque ...... uncovers informative mutations
@en
P2093
Anne Läßig
Annerose Keilmann
Cordula Neuner
Fabian Kraus
Indrajit Nanda
Jörg Schröder
Michaela A H Hofrichter
Oliver Bartsch
Sebastian Schraven
Thomas Haaf
P2860
P2888
P304
P356
10.1038/GIM.2014.65
P407
P50
P577
2014-05-29T00:00:00Z