Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.
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Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motilityWolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humansHeterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific mannerDominant optic atrophy.A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesAtypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genesPhenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss PatientsA homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1.Current developments in Wolfram syndrome.Endocrine and metabolic aspects of the Wolfram syndrome.Genetic and phenotypic variability of optic neuropathies.Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.WFS1 mutations in hearing-impaired children.A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.Hearing impairment in genotyped Wolfram syndrome patients.WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.Wolfram syndrome: MAMs' connection?Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
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P2860
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 2006
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Autosomal dominant optic atrop ...... nse mutation in the WFS1 gene.
@en
Autosomal dominant optic atrop ...... nse mutation in the WFS1 gene.
@nl
type
label
Autosomal dominant optic atrop ...... nse mutation in the WFS1 gene.
@en
Autosomal dominant optic atrop ...... nse mutation in the WFS1 gene.
@nl
prefLabel
Autosomal dominant optic atrop ...... nse mutation in the WFS1 gene.
@en
Autosomal dominant optic atrop ...... nse mutation in the WFS1 gene.
@nl
P2093
P2860
P356
P1476
Autosomal dominant optic atrop ...... nse mutation in the WFS1 gene.
@en
P2093
L Tranebjaerg
O Pedersen
T Rosenberg
P2860
P304
P356
10.1136/JMG.2005.034892
P407
P577
2006-05-01T00:00:00Z