Associated Papers
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
37415600 (PubMed )
Supplement: DataSheet1.XLSX › Supplementary_Materials
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J et al.
Biomed Research International, 2021
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
28432734 (PubMed )
Supplement: HUMU-38-764-s001.xlsx › Sheet1
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E et al.
Diabetes, 2017
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.
Haghighi A et al.
European Journal of Human Genetics : Ejhg, 2013
WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.
Yu G et al.
Endocrine, 2010
Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.
Gürtler N et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
Molecular characterization of WFS1 in patients with Wolfram syndrome.
van ven Ouweland JM et al.
The Journal of Molecular Diagnostics : Jmd, 2003
[From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)].
Pennings RJ et al.
Nederlands Tijdschrift Voor Geneeskunde, 2002
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.
Pennings RJ et al.
Audiology & Neuro-otology, 0
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