Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.
Lopes CP et al.
Archives of Endocrinology and Metabolism, 2024
A novel WFS1 variant associated with isolated congenital cataracts.
Krutish A et al.
Cold Spring Harbor Molecular Case Studies, 2023
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters.
Rotsos T et al.
American Journal of Ophthalmology Case Reports, 2022
Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations.
Zhu M et al.
European Journal of Endocrinology, 2021
A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.
Abreu D et al.
Jci Insight, 2021
Functional assessment of variants associated with Wolfram syndrome.
Riachi M et al.
Human Molecular Genetics, 2019
Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome.
Sobhani M et al.
Endocrine, 2019
Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells.
Stone S et al.
Scientific Reports, 2019
The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.
Wang DD et al.
Frontiers in Genetics, 2019
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
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
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.
Bodoor K et al.
Meta Gene, 2016
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
Lugar HM et al.
Scientific Reports, 2016
Phenotypic characteristics of early Wolfram syndrome.
Marshall BA et al.
Orphanet Journal of Rare Diseases, 2013
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Rohayem J et al.
Diabetes Care, 2011
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Rendtorff ND et al.
American Journal of Medical Genetics. Part A, 2011
Neurologic features and genotype-phenotype correlation in Wolfram syndrome.
Chaussenot A et al.
Annals of Neurology, 2011
Congenital cataracts in two siblings with Wolfram syndrome.
Mets RB et al.
Ophthalmic Genetics, 2010
WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.
Yu G et al.
Endocrine, 2010
Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.
Gasparin MR et al.
European Journal of Endocrinology, 2009
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.
Hansen L et al.
European Journal of Human Genetics : Ejhg, 2005
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
Giuliano F et al.
Human Mutation, 2005
Phenotype-genotype correlations in a series of wolfram syndrome families.
Smith CJ et al.
Diabetes Care, 2004
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Khanim F et al.
Human Mutation, 2001