Alström Syndrome: Mutation Spectrum of ALMS1. (Q35762928)

10 August 2017

title

Alström Syndrome: Mutation Spectrum of ALMS1. (English)

1 reference

10 August 2017

1 reference

Jean Muller

0 references

Stephen F Kingsmore

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Roberto Vettor

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Hélène Dollfus

1 reference

10 August 2017

Pietro Maffei

1 reference

10 August 2017

Jan D Marshall

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10 August 2017

Gayle B Collin

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10 August 2017

Gabriella Milan

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10 August 2017

Darrell Dinwiddie

1 reference

10 August 2017

Emily G Farrow

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10 August 2017

Neil A Miller

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10 August 2017

Francesca Favaretto

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10 August 2017

Jürgen K Naggert

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10 August 2017

publication date

18 May 2015

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10 August 2017

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10 August 2017

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10 August 2017

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10 August 2017

page(s)

660-668

1 reference

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Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome

2 October 2017

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Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis

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The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway

2 October 2017

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Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis

2 October 2017

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Novel Alu retrotransposon insertion leading to Alström syndrome

2 October 2017

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2 October 2017

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ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis

2 October 2017

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2 October 2017

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The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations

2 October 2017

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Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731

2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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

2 October 2017

1 reference

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Alms1-disrupted mice recapitulate human Alström syndrome

2 October 2017

1 reference

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

2 October 2017

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The Alström syndrome: is it a rare or unknown disease?

2 October 2017

1 reference

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

2 October 2017

1 reference

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

2 October 2017

1 reference

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2 October 2017

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

2 October 2017

1 reference

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A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.

2 October 2017

1 reference

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Alström syndrome: genetics and clinical overview

27 July 2018

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

27 July 2018

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

27 July 2018

1 reference

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Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.

27 July 2018

1 reference

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Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.

25 September 2018

1 reference

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Combined occurrence of Alström syndrome and bronchiectasis

25 September 2018

1 reference

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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria

25 September 2018

1 reference

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Theory-of-mind in adolescents and young adults with Alström syndrome

25 September 2018

1 reference

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Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

25 September 2018

1 reference

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Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome

25 September 2018

1 reference

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Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndrome

25 September 2018

1 reference

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25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

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

25 September 2018

1 reference

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Exudative retinopathy in a girl with Alström syndrome due to a novel mutation

25 September 2018

1 reference

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Characterization of the IGF system in 15 patients with Alström syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

Is arterial stiffening in Alström syndrome linked to the development of cardiomyopathy?

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

New Alström syndrome phenotypes based on the evaluation of 182 cases

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

Nomenclature for the description of human sequence variations

25 September 2018

1 reference

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4475486

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

25 September 2018

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Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22796

21 January 2018

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Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome

21 January 2018

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12 December 2020

Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome

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12 December 2020

Modification of severe insulin resistant diabetes in response to lifestyle changes in Alström syndrome

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12 December 2020

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

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12 December 2020

Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome

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7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.22796

1 reference

10 August 2017

1 reference

10 August 2017

1 reference