Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Item
http://www.wikidata.org/entity/Q34115318
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humansSurvey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing lossCDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyVariations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing LossMutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
P2860

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Item
http://www.wikidata.org/entity/Q34115318
description
2002 nî lūn-bûn
@nan
2002 թուականի Մարտին հրատարակուած գիտական յօդուած
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2002 թվականի մարտին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年论文
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Identification and in vitro ex ...... s with Usher syndrome type 1D.
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Identification and in vitro ex ...... s with Usher syndrome type 1D.
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Identification and in vitro ex ...... s with Usher syndrome type 1D.
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Identification and in vitro ex ...... s with Usher syndrome type 1D.
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Identification and in vitro ex ...... s with Usher syndrome type 1D.
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Identification and in vitro ex ...... s with Usher syndrome type 1D.
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Identification and in vitro ex ...... s with Usher syndrome type 1D.
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Identification and in vitro ex ...... s with Usher syndrome type 1D.
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Identification and in vitro ex ...... s with Usher syndrome type 1D.
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Identification and in vitro ex ...... s with Usher syndrome type 1D.
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P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698