Alström syndrome (Q50455154)

14 March 2018

title

Alström syndrome. (English)

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14 March 2018

author name string

Jan D Marshall

1

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14 March 2018

Sebastian Beck

2

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14 March 2018

Pietro Maffei

3

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14 March 2018

Jürgen K Naggert

4

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14 March 2018

publication date

17 October 2007

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14 March 2018

European Journal of Human Genetics

published in

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14 March 2018

volume

15

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14 March 2018

issue

12

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14 March 2018

page(s)

1193-1202

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14 March 2018

New Alström syndrome phenotypes based on the evaluation of 182 cases

cites work

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

Characterization of the IGF system in 15 patients with Alström syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

A patient with features of both Bardet-Biedl and Alström syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

Alström syndrome. Report of 22 cases and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

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

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

Alms1-disrupted mice recapitulate human Alström syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

Fat aussie--a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

Alstrom syndrome: a case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

7 January 2021

Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

7 January 2021

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201933

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201933

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14 March 2018

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14 March 2018