Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Clinical management and obstetric outcome in WFS1 Wolfram syndrome spectrum disorder: A case report and literature review.
Zhang K et al.
Taiwanese Journal of Obstetrics & Gynecology, 2023
Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.
Li Y et al.
Molecular Medicine Reports, 2020
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
[Mutation analysis of 16 mutation spots related to children patients with non-syndromic sensorineural hearing loss].
Man R et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2015
WFS1 mutations in hearing-impaired children.
Häkli S et al.
International Journal of Audiology, 2014
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
Matsunaga K et al.
Plos One, 2014
Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.
Ji H et al.
Bmc Ear, Nose, and Throat Disorders, 2014
A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.
Awata T et al.
Biochemical and Biophysical Research Communications, 2013
WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
Kytövuori L et al.
Journal of Human Genetics, 2013
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
Hildebrand MS et al.
American Journal of Medical Genetics. Part A, 2008
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.
Tsai HT et al.
Bmc Medical Genetics, 2007
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.
Fukuoka H et al.
Journal of Human Genetics, 2007
Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.
Kawamoto T et al.
Molecular Genetics and Metabolism, 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
No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans.
Kato T et al.
Neuroscience Letters, 2003
WFS1 mutations in Spanish patients with diabetes mellitus and deafness.
Domènech E et al.
European Journal of Human Genetics : Ejhg, 2002
Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations.
Minton JA et al.
Diabetes, 2002
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Khanim F et al.
Human Mutation, 2001
WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder.
Ohtsuki T et al.
Journal of Affective Disorders, 2000
Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis.
Awata T et al.
Biochemical and Biophysical Research Communications, 2000
Current knowledge of Japanese type 1 diabetic syndrome.
Abiru N et al.
Diabetes/metabolism Research and Reviews, 0