Associated Papers
Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort.
Esteban-Bueno G et al.
Diagnostics (basel, Switzerland), 2025
Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.
Caretto A et al.
Frontiers in Medicine, 2025
Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.
Esteban-Bueno G et al.
Healthcare (basel, Switzerland), 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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Grenier J et al.
Ophthalmology, 2016
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.
Chaussenot A et al.
Clinical Genetics, 2015
Phenotypic characteristics of early Wolfram syndrome.
Marshall BA et al.
Orphanet Journal of Rare Diseases, 2013
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.
Lieber DS et al.
Bmc Medical Genetics, 2012
Neurologic features and genotype-phenotype correlation in Wolfram syndrome.
Chaussenot A et al.
Annals of Neurology, 2011
Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.
Gasparin MR et al.
European Journal of Endocrinology, 2009
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.
Cano A et al.
American Journal of Medical Genetics. Part A, 2007
Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.
Domènech E et al.
Clinical Genetics, 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