(Q28205046)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12955714%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

review article

1 reference

title

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12955714%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

1 reference

7

1 reference

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7 November 2019

Richard J Smith

8

1 reference

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7 November 2019

Guy Van Camp

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12955714%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

5

Cor W R J Cremers

1 reference

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7 November 2019

author name string

Kim Cryns

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12955714%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Theru A Sivakumaran

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12955714%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Jody M W Van den Ouweland

3

1 reference

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7 November 2019

Ronald J E Pennings

4

1 reference

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7 November 2019

Kris Flothmann

6

1 reference

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7 November 2019

Marci M Lesperance

9

1 reference

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7 November 2019

language of work or name

English

0 references

publication date

1 October 2003

1 reference

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7 November 2019

1 reference

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7 November 2019

volume

22

1 reference

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7 November 2019

issue

4

1 reference

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7 November 2019

page(s)

275-287

1 reference

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Psychiatric disorders in 36 families with Wolfram syndrome

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

Molecular characterization of WFS1 in patients with Wolfram syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Mitochondrial abnormalities in the DIDMOAD syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Is there a relationship between Wolfram syndrome carrier status and suicide?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

WFS1 mutations in Spanish patients with diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Wolfram syndrome: a clinical and molecular genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Morbidity and mortality in the Wolfram syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Mutations in the Wolfram Syndrome Type 1 Gene (WFS1) Define a Clinical Entity of Dominant Low-Frequency Sensorineural Hearing Loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Bipolar disorder and variation at a common polymorphism (A1832G) within exon 8 of the Wolfram gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Association Studies of Genetic Variation in the WFS1 Gene and Type 2 Diabetes in U.K. Populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Psychiatric findings in Wolfram syndrome homozygotes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Predisposition of Wolfram syndrome heterozygotes to psychiatric illness.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Mutation screening of the Wolfram syndrome gene in psychiatric patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10258

7 January 2021

Identifiers

DOI

10.1002/HUMU.10258

2 references

Consolidated OpenCitations Corpus – April 2017

3991083

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12955714%20AND%20SRC:MED&resulttype=core&format=json

release_a7ur3aelozc2xpsqcswwz7lpvy

7 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/a7ur3aelozc2xpsqcswwz7lpvy

24 November 2022

mapped directly with Wikidata item

3991083

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

3991083