Mutation spectrum of Joubert syndrome and related disorders among Arabs-Reference-Cited by-同舟云学术

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Mutation spectrum of Joubert syndrome and related disorders among Arabs

Published:2014-11-06 Issue:1 Volume:1 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Ben-Salem Salma,Al-Shamsi Aisha M,Gleeson Joseph G,Ali Bassam R,Al-Gazali Lihadh

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201420.pdf

Reference75 articles.

1. Al-Gazali L, Hanan H . Consanguinity and dysmorphology in Arabs. Human Heredity 2014; 77: 93–107.

2. Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al Khaja N, Hamamy HA . Consanguinity and reproductive health among Arabs. Reprod Health 2009; 6: 17.

3. Al-Gazali L, Hamamy H, Al-Arrayad S . Genetic disorders in the Arab world. BMJ 2006; 333: 831–834.

4. Bener A, Eihakeem AA, Abdulhadi K . Is there any association between consanguinity and hearing loss. Int J Pediatr Otorhinolaryngol 2005; 69: 327–333.

5. Al-Gazali L, Ali BR . Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). Hum Mutat 2010; 31: 505–520.

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2. A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient;Indian Journal of Nephrology;2024-07-08

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4. Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene;Stem Cell Research;2023-02

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