Associated Papers
Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.
Caruso V et al.
Genes, 2024
Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches.
Zhao J et al.
Scientific Reports, 2023
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD et al.
Bmc Medical Genomics, 2023
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
Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.
Alías L et al.
Frontiers in Genetics, 2022
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
Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome.
Xavier J et al.
Journal of Child and Adolescent Psychopharmacology, 2016
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation.
Waschbisch A et al.
Journal of the Neurological Sciences, 2011
Select a paper to view details