About: Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

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About: Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Goto Sponge NotDistinct Permalink

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scientific article published on 24 May 2012

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rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articol științific (ro) articolo scientifico (it) artigo científico (gl) artigo científico (pt) artigo científico (pt-br) artikull shkencor (sq) artículo científico (es) bilimsel makale (tr) scienca artikolo (eo) vedecký článok (sk) vetenskaplig artikel (sv) vitenskapelig artikkel (nb) vitskapeleg artikkel (nn) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научная статья (ru) научни чланак (sr) מאמר מדעי (he) artikel ilmiah (id) article scientifique (fr) বৈজ্ঞানিক নিবন্ধ (bn) artículu científicu espublizáu en 2012 (ast) наукова стаття, опублікована в травні 2012 (uk) scientific article published on 24 May 2012 (en) scientific article published on 24 May 2012 (en-ca) scientific article published on 24 May 2012 (en-gb) مقالة علمية نشرت في 24 مايو 2012 (ar)
publication date	wds:Q38012854-410B33BD-6FA8-4BBA-8BCB-1F5DFE2495C5
publication date	2012-05-24 00:00:00Z (xsd:dateTime)
cites work	wds:Q38012854-16CE30C7-45CE-460A-AA02-6F3BE5F61F0B wds:Q38012854-2B17122B-D14B-4781-A181-3277F92D7132 wds:Q38012854-3063EDB6-1674-40B8-B8F7-E11C2D4F327F wds:Q38012854-3F5B884C-91C9-4296-8E9B-A0E135EEC597 wds:Q38012854-442CF2E5-6AE7-44B8-9E69-972222ADEF47 wds:Q38012854-94FB2EF1-95F4-4CFA-A4EE-4AFAAD3F2EB0 wds:Q38012854-B1C41E3B-C93B-493E-9DA9-33625983E160 wds:Q38012854-CE81DF40-62D9-43BC-94CE-BEA20F3CACE3
cites work	Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy The Ciliopathies: An Emerging Class of Human Genetic Disorders From cilia to cyst. Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing Spectrum of clinical diseases caused by disorders of primary cilia BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
author name string	wds:Q38012854-0CAC760C-719F-4DF6-A9B7-7EFC308A2906 wds:Q38012854-C2007F36-4368-432B-9B6B-679604346357
author name string	Gail Billingsley Catherine Deveault
rdfs:label	Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (en) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (nl) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (ast)
skos:prefLabel	Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (en) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (nl) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (ast)
name	Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (en) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (nl) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (ast)
author	wds:Q38012854-283C5DB0-2749-48D2-936B-1F170E07B0FA wds:Q38012854-DBDAED89-2D26-43A0-B3C4-059F4BEA8B50
author	Elise Héon Ajoy Vincent
title	wds:Q38012854-73C7BF08-CBA3-41AC-BDA1-3E56208C1564
title	Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly (en)
page(s)	wds:Q38012854-C4B64C18-B3F0-45CE-9000-8D2E2DDEE91C
page(s)	150-154
instance of	wds:Q38012854-FF23C15E-252E-46D6-8B1B-98AC20D47B45
instance of	scholarly article
main subject	wds:Q38012854-2017B461-E251-4356-B837-DF0E2FED5156 wds:Q38012854-EA5F59E7-2E9C-4FAD-9F78-B8E7845022F0
main subject	Bardet-Biedl syndrome mutational analysis
PubMed ID	wds:Q38012854-05802C22-476A-4D9C-9EFE-BE1FD0081FAF
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/22626039
PubMed ID	22626039
published in	wds:Q38012854-4D603E53-0178-4516-B489-E8BCB1AA9C71
published in	Ophthalmic Genetics
issue	wds:Q38012854-D0788220-A57A-4708-A5B9-3904A76E19E0
volume	wds:Q38012854-C51ACD17-66E7-4FF8-8A50-F7142AC86335
issue	3
volume	33
DOI	wds:Q38012854-1F4C413F-E17F-479D-B9AB-EB3A22947BCF
DOI	http://dx.doi.org/10.3109/13816810.2012.689411
DOI	10.3109/13816810.2012.689411
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q38012854
is cites work of	Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies Update on the genetics of bardet-biedl syndrome The cilium: a cellular antenna with an influence on obesity risk Gene-gene interactions in APOL1-associated nephropathy SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome Genetics of human Bardet-Biedl syndrome, an updates The role of primary cilia in the development and disease of the retina Bardet-Biedl Syndrome Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes

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