Discovery of a previously unrecognized microdeletion syndrome of 16p11.2

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

Published:2007-08-19 Issue:9 Volume:39 Page:1071-1073
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Ballif Blake C,Hornor Sara A,Jenkins Elizabeth,Madan-Khetarpal Suneeta,Surti Urvashi,Jackson Kelly E,Asamoah Alexander,Brock Pamela L,Gowans Gordon C,Conway Robert L,Graham John M,Medne Livija,Zackai Elaine H,Shaikh Tamim H,Geoghegan Joel,Selzer Rebecca R,Eis Peggy S,Bejjani Bassem A,Shaffer Lisa G

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng2107.pdf

Reference14 articles.

1. She, X. et al. Nature 430, 857–864 (2004).

2. Stankiewicz, P. & Lupski, J.R. Trends Genet. 18, 74–82 (2002).

3. Bejjani, B.A. et al. Am. J. Med. Genet. A. 134, 259–267 (2005).

4. Ballif, B.C. et al. Genet. Med. 9, 150–162 (2007).

5. Koolen, D.A. et al. Nat. Genet. 38, 999–1001 (2006).

Cited by 180 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. Genetic etiology and neurobiological mechanisms of autism spectrum disorders;SCIENTIA SINICA Vitae;2024-09-01

2. Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review;Genes;2024-05-23

3. Schizophrenia in the Context of Neurodevelopmental Disorders in 16p12.2 Chromosomal Deletion: A Case Report;Indian Journal of Psychological Medicine;2024-01-24

4. Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7;Frontiers in Genetics;2023-12-20

5. The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents;Croatian Medical Journal;2023-10