Clinical utility gene card for: Alström Syndrome - update 2013. (Q37235200)

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29 February 2020

title

Clinical utility gene card for: Alström Syndrome - update 2013 (English)

1 reference

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29 February 2020

1 reference

4

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29 February 2020

2

Pietro Maffei

1 reference

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29 February 2020

author name string

Jan D Marshall

1

1 reference

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29 February 2020

Sebastian Beck

3

1 reference

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29 February 2020

Richard Paisey

5

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29 February 2020

Jürgen K Naggert

6

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29 February 2020

publication date

24 April 2013

1 reference

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European Journal of Human Genetics

29 February 2020

published in

1 reference

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29 February 2020

volume

21

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issue

11

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page(s)

3-4

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Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

30 June 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798853

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798853

Novel Alu retrotransposon insertion leading to Alström syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798853

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798853

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798853

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798853

Alström syndrome: genetics and clinical overview

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798853

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798853

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798853

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798853

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

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23612576

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.61

1 reference

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29 February 2020

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29 February 2020

PubMed publication ID

23612576

1 reference

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