Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)-Reference-Cited by-同舟云学术

Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)

Published:2016-03-22 Issue:11 Volume:25 Page:2283-2294
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Heon Elise,Kim Gunhee,Qin Sophie,Garrison Janelle E.,Tavares Erika,Vincent Ajoy,Nuangchamnong Nina,Scott C. Anthony,Slusarski Diane C.,Sheffield Val C.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/25/11/2283/18526863/ddw096.pdf

Reference65 articles.

1. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

2. Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome

3. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity;Kwitek-Black;Nat. Genet,1993

4. Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous

5. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

Cited by 86 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction;Diabetes, Obesity and Metabolism;2024-02

2. Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations;JCI Insight;2024-01-09

3. The dominant findings of a recessive man: from Mendel’s kid pea to kidney;Pediatric Nephrology;2023-12-05

4. Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections;International Journal of Molecular Sciences;2023-09-06

5. Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond;eLife;2023-07-19