Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers-Reference-Cited by-同舟云学术

Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

Published:2011-10-14 Issue:12 Volume:155 Page:3042-3049
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zaki Maha S.¹,Sattar Shifteh²,Massoudi Rustin A.²,Gleeson Joseph G.²

Affiliation:

1. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

2. Neurogenetics Laboratory, Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, San Diego, California

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.34173

Reference34 articles.

1. Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

2. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

3. The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

4. The Ciliopathies: An Emerging Class of Human Genetic Disorders

5. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Cited by 37 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. A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases;Genes;2023-08-03

2. A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification;Genes;2023-05-01

3. Prenatal diagnosis of Bardet Biedl Syndrome: A case report;Radiology Case Reports;2023-01

4. Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do;Journal of Multidisciplinary Healthcare;2022-09

5. Ciliopathies;Pathology of Genetically Engineered and Other Mutant Mice;2021-12-16