(Q33768990)

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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25296579%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

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Europe PubMed Central

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey (English)

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20 February 2020

Alström syndrome

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Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

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12

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20 February 2020

Riza Koksal Ozgul

28

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20 February 2020

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Ayşegül Ozantürk

1

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20 February 2020

Jan D Marshall

2

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20 February 2020

Gayle B Collin

3

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20 February 2020

Selma Düzenli

4

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20 February 2020

Robert P Marshall

5

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20 February 2020

Şükrü Candan

6

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20 February 2020

Tülay Tos

7

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20 February 2020

İhsan Esen

8

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20 February 2020

Mustafa Taşkesen

9

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20 February 2020

Atilla Çayır

10

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20 February 2020

Şükrü Öztürk

11

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20 February 2020

Esra Ataman

13

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20 February 2020

Emin Karaca

14

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20 February 2020

Taha Reşid Özdemir

15

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20 February 2020

İlknur Erol

16

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20 February 2020

Fehime Kara Eroğlu

17

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20 February 2020

Deniz Torun

18

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20 February 2020

Erhan Parıltay

19

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20 February 2020

Elif Yılmaz-Güleç

20

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20 February 2020

Ender Karaca

21

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20 February 2020

M Emre Atabek

22

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20 February 2020

Nursel Elçioğlu

23

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20 February 2020

İlhan Satman

24

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20 February 2020

Claes Möller

25

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20 February 2020

Jean Muller

26

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20 February 2020

Jürgen K Naggert

27

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20 February 2020

publication date

9 October 2014

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20 February 2020

Journal of Human Genetics

1 reference

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20 February 2020

60

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20 February 2020

1

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20 February 2020

1-9

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25296579%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Mutations in Alström protein impair terminal differentiation of cardiomyocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

SIFT web server: predicting effects of amino acid substitutions on proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

Alström syndrome with acanthosis nigricans: a case report and literature review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

Alström syndrome: genetics and clinical overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

Novel Alu retrotransposon insertion leading to Alström syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

Clinical utility gene card for: Alström syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

Metabolic syndrome features presenting in early childhood in Alström syndrome: a case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

Alms1-disrupted mice recapitulate human Alström syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

Clinical outcomes of consanguineous marriages in Turkey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

14 July 2018

New Alström syndrome phenotypes based on the evaluation of 182 cases

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.85

21 January 2018

Alström syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.85

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.85

21 January 2018

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.85

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.85

21 January 2018

Evaluation of insulin resistant diabetes mellitus in Alström syndrome: a long-term prospective follow-up of three siblings

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.85

21 January 2018

Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.85

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.85

21 January 2018

Combined occurrence of Alström syndrome and bronchiectasis.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.85

21 January 2018

Alström syndrome with liver cirrhosis: first case from Turkey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

30 October 2018

A rare cause of dilated cardiomyopathy; Alström syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

30 October 2018

Alstrom syndrome: a case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5460767

30 October 2018

A rare cause of bleeding esophageal varices: Alström syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25296579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired glucose tolerance leads to delayed diagnosis of Alström syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25296579

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/JHG.2014.85

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25296579%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25296579%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25296579%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

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