Associated Papers
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
Targovnik HM et al.
Endocrine, 2025
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.
Chimienti R et al.
Diabetologia, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li Q et al.
Bmc Medical Genomics, 2022
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.
Gong Y et al.
Bmc Endocrine Disorders, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
Li S et al.
Bmc Medical Genetics, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.
Bodoor K et al.
Meta Gene, 2016
Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: a case report.
Xu Q et al.
Molecular Medicine Reports, 2013
Novel mutations of wolframin: a report with a look at the protein structure.
Alimadadi A et al.
Clinical Genetics, 2011
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 in WFS1 and genotype-phenotype correlation in Wolfram syndrome.
Cano A et al.
American Journal of Medical Genetics. Part A, 2007
Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.
Gürtler N et al.
Journal of Molecular Medicine (berlin, Germany), 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
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.
Colosimo A et al.
Human Mutation, 2003
WFS1 mutations in Spanish patients with diabetes mellitus and deafness.
Domènech E et al.
European Journal of Human Genetics : Ejhg, 2002