Associated Papers
Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review.
La Valle A et al.
International Journal of Environmental Research and Public Health, 2021
Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection.
Marchand L et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.
Rigoli L et al.
Pediatric Research, 2020
The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.
Wang DD et al.
Frontiers in Genetics, 2019
Molecular diagnostics for hereditary hearing loss in children.
Sommen M et al.
Expert Review of Molecular Diagnostics, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Rohayem J et al.
Diabetes Care, 2011
Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.
d'Annunzio G et al.
Diabetes Care, 2008
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 detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.
Colosimo A et al.
Human Mutation, 2003
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N et al.
Mutation Research, 0
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