EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome (Q34975099)

5 August 2017

title

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome (English)

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5 August 2017

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Bardet-Biedl syndrome

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2

Ségolène Aymé

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5 August 2017

6

Wojciech Młynarski

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5 August 2017

Miguel López de Heredia

Miguel Lopez de Heredia

3

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Vallo Tillmann

Vallo Tillmann

12

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Timothy Barrett

Timothy G Barrett

14

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Richard Sinnott

Richard Sinnott

11

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Lisbeth Tranebjærg

13

Lisbeth Tranebjaerg

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5 August 2017

4

Pietro Maffei

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5 August 2017

Amy Farmer

1

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5 August 2017

Susan McCafferty

5

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5 August 2017

Virginia Nunes

7

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5 August 2017

Kay Parkinson

8

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5 August 2017

Véronique Paquis-Flucklinger

9

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5 August 2017

Julia Rohayem

10

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5 August 2017

language of work or name

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27 August 2013

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5 August 2017

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5 August 2017

volume

13

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5 August 2017

page(s)

130

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

5 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Alström syndrome: genetics and clinical overview

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

LOVD v.2.0: the next generation in gene variant databases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

New insights and therapies for the metabolic consequences of Alström syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Cardiac magnetic resonance imaging in Alström syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Provision of genetic services in Europe: current practices and issues

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Alström syndrome. Report of 22 cases and literature review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Wolfram (DIDMOAD) syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Wolfram syndrome: Evidence of a diffuse neurodegenerative disease by magnetic resonance imaging

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765797

Wolfram syndrome: a clinicopathologic correlation

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2431-13-130

Alström syndrome and cecal volvulus in 2 siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2431-13-130

New Alström syndrome phenotypes based on the evaluation of 182 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2431-13-130

Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2431-13-130

Provision of genetic services in Europe: current practices and issues

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23981649

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2431-13-130

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Dimensions Publication ID

5 August 2017

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5 August 2017

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