(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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6

Pietro Maffei

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31 January 2017

Gayle B. Collin

1

1 reference

31 January 2017

Jan D. Marshall

2

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31 January 2017

Akihiro Ikeda

3

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31 January 2017

W. Venus So

4

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31 January 2017

Isabelle Russell-Eggitt

5

1 reference

31 January 2017

Sebastian Beck

7

1 reference

31 January 2017

Cornelius F. Boerkoel

8

1 reference

31 January 2017

Nicola Sicolo

9

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31 January 2017

Mitchell Martin

10

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31 January 2017

Patsy M. Nishina

11

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31 January 2017

Jürgen K. Naggert

12

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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

volume

31

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31 January 2017

issue

1

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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

1 reference

7 January 2021

Hepatic dysfunction in Alström disease

1 reference

7 January 2021

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

1 reference

7 January 2021

Homozygosity mapping at Alström syndrome to chromosome 2p

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Obesity as a medical problem

1 reference

7 January 2021

Genetic determinants of type 2 diabetes

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7 January 2021

The genetics of obesity

1 reference

7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021