(Q28205421)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6198816&resulttype=core&format=json

12 May 2020

1 reference

1 reference

1 reference

sensorineural hearing loss

1 reference

I N Bespalova

1

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12 May 2020

S J Bom

3

1 reference

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12 May 2020

D J Brown

4

1 reference

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12 May 2020

K Cryns

5

1 reference

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12 May 2020

A T DeWan

6

1 reference

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12 May 2020

K Flothmann

8

1 reference

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12 May 2020

H P Kunst

9

1 reference

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12 May 2020

P Kurnool

10

1 reference

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12 May 2020

T A Sivakumaran

11

1 reference

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12 May 2020

C W Cremers

12

1 reference

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S M Leal

13

1 reference

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12 May 2020

M Burmeister

14

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M M Lesperance

15

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12 May 2020

language of work or name

English

0 references

publication date

15 October 2001

0 references

published in

Human Molecular Genetics

1 reference

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12 May 2020

volume

10

1 reference

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12 May 2020

issue

22

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12 May 2020

page(s)

2501-2508

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6198816&resulttype=core&format=json

Sensorineural Hearing Loss for Low Tones

12 May 2020

cites work

1 reference

12 December 2020

Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

1 reference

12 December 2020

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

1 reference

12 December 2020

Otologic findings of DIDMOAD syndrome.

1 reference

12 December 2020

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

12 December 2020

A DNA polymorphism discovery resource for research on human genetic variation

1 reference

12 December 2020

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

1 reference

12 December 2020

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

1 reference

12 December 2020

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

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12 December 2020

Dominantly inherited low-frequency hearing loss.

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12 December 2020

Clinical Findings and Diagnostic Problems in Sensorineural Low Frequency Hearing Loss

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12 December 2020

Dominantly inherited low-frequency hearing loss

1 reference

12 December 2020

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

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12 December 2020

Familial low frequency hearing loss

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

The gene for an inherited form of deafness maps to chromosome 5q31

1 reference

12 December 2020

Psychiatric disorders in 36 families with Wolfram syndrome

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12 December 2020

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome

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12 December 2020

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

1 reference

12 December 2020

Wolfram syndrome: a neuropathological study

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12 December 2020

Mutation screening of the Wolfram syndrome gene in psychiatric patients

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12 December 2020

Psychiatric findings in Wolfram syndrome homozygotes

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12 December 2020

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.

1 reference

12 December 2020

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Predisposition of Wolfram syndrome heterozygotes to psychiatric illness.

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12 December 2020

The CpG dinucleotide and human genetic disease

1 reference

12 December 2020

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/10.22.2501

2 references

Consolidated OpenCitations Corpus – April 2017

3991085

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6198816&resulttype=core&format=json

12 May 2020

3991085

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6198816&resulttype=core&format=json

12 May 2020

PubMed publication ID

11709537

2 references

Consolidated OpenCitations Corpus – April 2017

3991085