(Q35304118)

7 August 2017

title

Clinical utility gene card for: Alström syndrome (English)

1 reference

7 August 2017

2

Pietro Maffei

1 reference

7 August 2017

Jan D Marshall

1

1 reference

7 August 2017

Sebastian Beck

series ordinal

3

1 reference

7 August 2017

Timothy G Barrett

series ordinal

4

1 reference

7 August 2017

Richard B Paisey

series ordinal

5

1 reference

7 August 2017

publication date

27 April 2011

1 reference

European Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

19

1 reference

7 August 2017

issue

10

1 reference

7 August 2017

page(s)

1108-1108

1 reference

Alstrom syndrome (OMIM 203800): a case report and literature review

30 June 2019

cites work

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190258

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

27 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190258

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

27 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190258

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

27 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.72

Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.72

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.72

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21522186

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.72

1 reference

Dimensions Publication ID

7 August 2017

0 references

1 reference

7 August 2017

1 reference