Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes-Reference-Cited by-同舟云学术

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

Published:2012-11-21 Issue:7 Volume:21 Page:762-768
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Shaheen Ranad,Faqeih Eissa,Alshammari Muneera J,Swaid Abdulrahman,Al-Gazali Lihadh,Mardawi Elham,Ansari Shinu,Sogaty Sameera,Seidahmed Mohammed Z,AlMotairi Muhammed I,Farra Chantal,Kurdi Wesam,Al-Rasheed Shatha,Alkuraya Fowzan S

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012254.pdf

Reference45 articles.

1. Seller MJ : Phenotypic variation in Meckel syndrome. Clin Genet 1981; 20: 74–77.

2. Teebi AS, Teebi SA : Genetic diversity among the Arabs. Community Genet 2005; 8: 21–26.

3. Salonen R, Norio R : The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet 1984; 18: 691–698.

4. Kyttala M, Tallila J, Salonen R et al: MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet 2006; 38: 155–157.

5. Consugar MB, Kubly VJ, Lager DJ et al: Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet 2007; 121: 591–599.

Cited by 53 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. WITHDRAWN: Enhancing Cancer Detection Through DNA Sequences and Ensemble Method;Intelligent Systems with Applications;2024-04

2. Genetic determinants of blood pressure and heart rate identified through ENU-induced mutagenesis with automated meiotic mapping;Science Advances;2024-03

3. EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO;Frontiers in Cell and Developmental Biology;2023-07-27

4. The exocyst complex in neurological disorders;Human Genetics;2023-04-22

5. Ciliogenesis membrane dynamics and organization;Seminars in Cell & Developmental Biology;2023-01