Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome
about
Cadherins and mechanotransduction by hair cellsRegulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domainProfound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.Novel mutations in the USH1C gene in Usher syndrome patients.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.The role of double-stranded break repair in the creation of phenotypic diversity at cereal VRN1 loci.Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Partial USH2A deletions contribute to Usher syndrome in Denmark.In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndromeHidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsExperience of targeted Usher exome sequencing as a clinical test.An update on the genetics of usher syndrome.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Wolf outside, dog inside? The genomic make-up of the Czechoslovakian Wolfdog
P2860
Q24649559-E83E5E86-16C4-47D2-8F1F-961CE15E0373Q28590789-6693282B-1457-47FA-B994-36E5D7817EA5Q30497402-7ABEDA38-04C3-47FC-A5D8-69B1FEFCA750Q34237276-946C6B69-F92D-4189-84B6-DAE13129E97CQ34452951-5D79CC9D-4DBD-4FFE-AB97-9175DA63B6A2Q34579015-7F09AE47-B38F-4FE5-9812-98D6C8F16AF6Q35074263-B833AE9B-6FCE-4979-8C44-BC7E2318EE34Q36099698-B79C4B5B-2EA6-41D3-A2C7-71FC1BA4019DQ36416187-752255D3-EA55-4ED3-9709-B2C9BF389593Q36592020-E35BA5CC-44AA-48D6-BD96-D98A552209C3Q36695773-FAEC9E33-1F8B-45FA-92D0-BEA8B19CB10CQ36951185-F1DBAC32-CEED-4DE8-92EF-5389B58329FDQ37277302-67E6BFA8-7884-4462-8E50-35367BB3C60DQ37320277-02E0680D-FB9C-4346-B7F6-30BC066FC211Q37426932-E47AD0D6-FED9-4CF5-AD29-A121468A1C63Q37535791-DDC3D279-961C-428F-AE85-D9E2CBC7E277Q42028636-AF08C5D2-BB0D-4F6B-9A34-582A67E5CEAAQ49075196-8CAE60B2-BC84-48CF-A142-52D579B14CA3Q56365890-D3D2AF3D-3563-46E4-BB2E-52A244556FBB
P2860
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome
description
2007 nî lūn-bûn
@nan
2007 թուականին հրատարակուած գիտական յօդուած
@hyw
2007 թվականին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Large genomic rearrangements w ...... ficant cause of USH1F syndrome
@ast
Large genomic rearrangements w ...... ficant cause of USH1F syndrome
@en
Large genomic rearrangements w ...... ficant cause of USH1F syndrome
@nl
type
label
Large genomic rearrangements w ...... ficant cause of USH1F syndrome
@ast
Large genomic rearrangements w ...... ficant cause of USH1F syndrome
@en
Large genomic rearrangements w ...... ficant cause of USH1F syndrome
@nl
prefLabel
Large genomic rearrangements w ...... ficant cause of USH1F syndrome
@ast
Large genomic rearrangements w ...... ficant cause of USH1F syndrome
@en
Large genomic rearrangements w ...... ficant cause of USH1F syndrome
@nl
P2093
P2860
P3181
P1433
P1476
Large genomic rearrangements w ...... ficant cause of USH1F syndrome
@en
P2093
Anne-Françoise Roux
Mireille Claustres
Sandie Le Guédard
Sue Malcolm
Valérie Faugère
P2860
P304
P3181
P407
P577
2007-01-26T00:00:00Z