Clinical Picture, Evolution and Peculiar Molecular Findings in a Very Large Pedigree with Wolfram Syndrome

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Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists.WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.Hearing impairment in genotyped Wolfram syndrome patients.

P2860

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Clinical Picture, Evolution and Peculiar Molecular Findings in a Very Large Pedigree with Wolfram Syndrome

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http://www.wikidata.org/entity/Q57251863

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im Januar 2005 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 01 December 2005

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wetenschappelijk artikel

@nl

наукова стаття, опублікована в січні 2005

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name

Clinical Picture, Evolution an ...... Pedigree with Wolfram Syndrome

@en

Clinical Picture, Evolution an ...... Pedigree with Wolfram Syndrome

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type

Item

label

Clinical Picture, Evolution an ...... Pedigree with Wolfram Syndrome

@en

Clinical Picture, Evolution an ...... Pedigree with Wolfram Syndrome

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Clinical Picture, Evolution an ...... Pedigree with Wolfram Syndrome

@en

Clinical Picture, Evolution an ...... Pedigree with Wolfram Syndrome

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P1476

Clinical picture, evolution an ...... pedigree with Wolfram syndrome

@en

P2093

Filippo De Luca

http://www.w3.org/2001/XMLSchema#string

Fortunato Lombardo

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Giuseppina Salzano

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Ignazio Barberi

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Konstanze Hörtnagel

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Maria Francesca Messina

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Mariella Valenzise

http://www.w3.org/2001/XMLSchema#string

Pietro Chiurazzi

http://www.w3.org/2001/XMLSchema#string

Teresa Arrigo

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P2860

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

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

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

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

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

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

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

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

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome

Thiamine-responsive anemia in DIDMOAD syndrome.

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1391-1397

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scholarly article

P356

10.1515/JPEM.2005.18.12.1391

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Thomas Meitinger

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2005-12-01T00:00:00Z

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P698

16459465

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Clinical Picture, Evolution and Peculiar Molecular Findings in a Very Large Pedigree with Wolfram Syndrome

about

P2860

P2860

Clinical Picture, Evolution and Peculiar Molecular Findings in a Very Large Pedigree with Wolfram Syndrome

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698