Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome (Q28589433)

31 January 2017

title

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

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ALMS1, centrosome and basal body associated

31 January 2017

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GOA release 2020-03-11

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Pietro Maffei

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31 January 2017

Gayle B. Collin

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31 January 2017

Jan D. Marshall

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31 January 2017

Akihiro Ikeda

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31 January 2017

W. Venus So

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31 January 2017

Isabelle Russell-Eggitt

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31 January 2017

Sebastian Beck

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31 January 2017

Cornelius F. Boerkoel

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31 January 2017

Nicola Sicolo

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31 January 2017

Mitchell Martin

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31 January 2017

Patsy M. Nishina

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31 January 2017

Jürgen K. Naggert

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31 January 2017

language of work or name

English

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publication date

1 May 2002

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31 January 2017

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31 January 2017

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31 January 2017

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31 January 2017

page(s)

74–78

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Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy

31 January 2017

cites work

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7 January 2021

Hepatic dysfunction in Alström disease

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7 January 2021

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

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7 January 2021

Homozygosity mapping at Alström syndrome to chromosome 2p

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7 January 2021

Alström syndrome: further evidence for linkage to human chromosome 2p13.

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7 January 2021

Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Obesity as a medical problem

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7 January 2021

Genetic determinants of type 2 diabetes

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7 January 2021

The genetics of obesity

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7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

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7 January 2021

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

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7 January 2021

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

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7 January 2021

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

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7 January 2021

Feeding and body-weight regulation by hypothalamic neuropeptides--mediation of the actions of leptin

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7 January 2021

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

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7 January 2021

Physical and genetic mapping of novel microsatellite polymorphisms on human chromosome 19

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7 January 2021

Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans

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7 January 2021