Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene-Reference-Cited by-同舟云学术

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

Published:2005-12 Issue:6 Volume:77 Page:1021-1033
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Nishimura Darryl Y.,Swiderski Ruth E.,Searby Charles C.,Berg Erik M.,Ferguson Amanda L.,Hennekam Raoul,Merin Saul,Weleber Richard G.,Biesecker Leslie G.,Stone Edwin M.,Sheffield Val C.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells;Adams;Bone,1999

2. Basic local alignment search tool;Altschul;J Mol Biol,1990

3. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome;Ansley;Nature,2003

4. Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis;Avidor-Reiss;Cell,2004

5. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2;Badano;Am J Hum Genet,2003

Cited by 177 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. Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9;International Journal of Molecular Sciences;2024-07-30

2. Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet–Biedl Syndrome;Cureus;2024-07-30

3. Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9;Current Issues in Molecular Biology;2024-03-18

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

5. Primary cilia in skeletal development and disease;Experimental Cell Research;2023-10