Condition: Wolfram Syndrome 1


rs797045076 in LOC107986257;WFS1 gene and Wolfram Syndrome 1 PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs1402999203 in WFS1 gene and Wolfram Syndrome 1 PMID 9771706 1998 A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

PMID 10521293 1999 Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

PMID 21538838 2011 Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

PMID 11161832 2001 Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

PMID 22226368 2012 Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

PMID 9817917 1998 Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

PMID 15605410 2005 Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

PMID 11295831 2001 Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

PMID 23981289 2013 Phenotypic characteristics of early Wolfram syndrome.

PMID 26875006 2016 Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

PMID 21067485 2010 Congenital cataracts in two siblings with Wolfram syndrome.

PMID 22238590 2012 Wolfram syndrome: new mutations, different phenotype.

PMID 26435059 2015 Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

PMID 9856492 1998 Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family.

PMID 17603484 2007 Common variants in WFS1 confer risk of type 2 diabetes.

PMID 18040659 2008 Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations.

PMID 25211237 2014 Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs372855769 in WFS1;LOC107986257 gene and Wolfram Syndrome 1 PMID 15605410 2005 Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

PMID 9817917 1998 Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

PMID 11161832 2001 Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

PMID 11295831 2001 Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

PMID 9771706 1998 A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

PMID 22226368 2012 Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

PMID 21538838 2011 Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

PMID 10521293 1999 Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.