(Q50456932)

14 March 2018

title

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. (English)

1 reference

14 March 2018

author

Tom Hearn

10

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14 March 2018

Roberto Vettor

12

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14 March 2018

author name string

Jan D Marshall

1

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14 March 2018

Elizabeth G Hinman

2

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14 March 2018

Gayle B Collin

3

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14 March 2018

Sebastian Beck

4

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14 March 2018

Rita Cerqueira

5

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14 March 2018

Pietro Maffei

6

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14 March 2018

Gabriella Milan

7

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14 March 2018

Weidong Zhang

8

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14 March 2018

David I Wilson

9

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14 March 2018

Purificação Tavares

11

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14 March 2018

Caterina Veronese

13

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14 March 2018

Mitchell Martin

14

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14 March 2018

W Venus So

15

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14 March 2018

Patsy M Nishina

16

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14 March 2018

Jürgen K Naggert

17

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14 March 2018

publication date

1 November 2007

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14 March 2018

published in

Human Mutation

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14 March 2018

volume

28

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14 March 2018

page(s)

1114-1123

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14 March 2018

issue

11

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14 March 2018

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

Amino acid substitution matrices from protein blocks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

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/10.1002%2FHUMU.20577

7 January 2021

New Alström syndrome phenotypes based on the evaluation of 182 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

Predicting the effects of amino acid substitutions on protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

RNA surveillance by nuclear scanning?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20577

7 January 2021

Identifiers

DOI

10.1002/HUMU.20577

1 reference

14 March 2018

PubMed ID

17594715

1 reference

14 March 2018