Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4-Reference-Cited by-同舟云学术

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Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

Published:2012-02-29 Issue:9 Volume:20 Page:990-994
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bondurand Nadége,Fouquet Virginie,Baral Viviane,Lecerf Laure,Loundon Natalie,Goossens Michel,Duriez Benedicte,Labrune Philippe,Pingault Veronique

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201229.pdf

Reference21 articles.

1. Amiel J, Sproat-Emison E, Garcia-Barcelo M et al: Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 2008; 45: 1–14.

2. Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N : Review and update of mutations causing Waardenburg syndrome. Hum Mutat 2010; 31: 391–406.

3. Inoue K, Khajavi M, Ohyama T et al: Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 2004; 36: 361–369.

4. Amiel J, Benko S, Gordon CT, Lyonnet S : Disruption of long-distance highly conserved noncoding elements in neurocristopathies. Ann NY Acad Sci 2010; 1214: 34–46.

5. Emison ES, McCallion AS, Kashuk CS et al: A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 2005; 434: 857–863.

Cited by 36 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. Five novel cis-regulatory deletions of SOX10 cause Waardenburg syndrome type II;Frontiers in Audiology and Otology;2024-06-18

2. Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing;Molecular Genetics & Genomic Medicine;2022-11-04

3. Identification of eight novel variants across PAX3, SOX10, EDNRB and MITF genes in Waardenburg syndrome with next-generation sequencing;2022-01-27

4. SOX10: 20 years of phenotypic plurality and current understanding of its developmental function;Journal of Medical Genetics;2021-10-19

5. Altered DNA repair creates novel Alu/Alu repeat‐mediated deletions;Human Mutation;2021-03-19

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