Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities-Reference-Cited by-同舟云学术

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

Published:2010-03 Issue:3 Volume:86 Page:454-461
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Ballif Blake C.,Theisen Aaron,Rosenfeld Jill A.,Traylor Ryan N.,Gastier-Foster Julie,Thrush Devon Lamb,Astbury Caroline,Bartholomew Dennis,McBride Kim L.,Pyatt Robert E.,Shane Kate,Smith Wendy E.,Banks Valerie,Gallentine William B.,Brock Pamela,Rudd M. Katharine,Adam Margaret P.,Keene Julia A.,Phillips John A.,Pfotenhauer Jean P.,Gowans Gordon C.,Stankiewicz Pawel,Bejjani Bassem A.,Shaffer Lisa G.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference44 articles.

1. Recent segmental duplications in the human genome;Bailey;Science,2002

2. Duplication hotspots, rare genomic disorders, and common disease;Mefford;Curr. Opin. Genet. Dev.,2009

3. Molecular mechanisms for constitutional chromosomal rearrangements in humans;Shaffer;Annu. Rev. Genet.,2000

4. Genome architecture, rearrangements and genomic disorders;Stankiewicz;Trends Genet.,2002

5. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism;Koolen;Nat. Genet.,2006

Cited by 85 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. Frameshift variants inTBX2underlie autosomal-dominant hearing loss with incomplete penetrance of nystagmus;2024-07-19

2. Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders;Human Genetics;2024-07

3. Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements;2024-06-19

4. A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia;Clinical Genetics;2023-10-11

5. Molecular Function and Contribution of TBX4 in Development and Disease;American Journal of Respiratory and Critical Care Medicine;2023-04-01