Associated Papers
Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.
Rohayem J et al.
Andrology, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort.
Esteban-Bueno G et al.
Diagnostics (basel, Switzerland), 2025
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
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
Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.
Jauregui R et al.
Brain Sciences, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.
Chapla A et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.
Sobhani M et al.
Bmc Medical Genetics, 2020
Functional assessment of variants associated with Wolfram syndrome.
Riachi M et al.
Human Molecular Genetics, 2019
The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.
Wang DD et al.
Frontiers in Genetics, 2019
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.
Şıklar Z et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2018
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.
Ghahraman M et al.
Acta Diabetologica, 2016
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
Lugar HM et al.
Scientific Reports, 2016
Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome.
Pedroso JL et al.
Arquivos De Neuro-psiquiatria, 2015
Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms.
Sobhani M et al.
Gene, 2013
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
Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.
d'Annunzio G et al.
Diabetes Care, 2008
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
Giuliano F et al.
Human Mutation, 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