c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness-Reference-Cited by-同舟云学术

c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness

Published:2016-02 Issue:2 Volume:59 Page:65-69
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Safarpour Lima Behnam,Ghaedi Hamid,Daftarian Narsis,Ahmadieh Hamid,Jamshidi Javad^ORCID,Khorrami Mehdi,Noroozi Rezvan,Sohrabifar Nasim,Assarzadegan Farhad,Hesami Omid,Taghavi Shaghayegh,Ahmadifard Azadeh,Atakhorrami Minoo,Rahimi-Aliabadi Simin,Shahmohammadibeni Neda,Alehabib Elham,Andarva Monavvar,Darvish Hossein,Emamalizadeh Babak

Funder

Shahid Beheshti University of Medical Sciences, Tehran, Iran

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference23 articles.

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2. 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;Biochem. Biophys. Res. Commun.,2000

3. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome;Cano;Am. J. Med. Genet. Part A,2007

4. Neurologic features and genotype-phenotype correlation in Wolfram syndrome;Chaussenot;Ann. Neurol.,2011

5. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders;Chaussenot;Clin. Genet.,2015

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1. Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis;Healthcare;2023-06-29

2. Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome;BMC Endocrine Disorders;2021-08-17

3. A homozygous missense mutation ofWFS1gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity);Journal of Clinical Laboratory Analysis;2020-05-17

4. Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family;Acta Diabetologica;2019-07-15

5. Calcium Signaling and Contractility in Cardiac Myocyte of Wolframin Deficient Rats;Frontiers in Physiology;2019-03-13