Neural tube defects and atypical deletion on 22q11.2-Reference-Cited by-同舟云学术

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Neural tube defects and atypical deletion on 22q11.2

Published:2014-08-13 Issue:11 Volume:164 Page:2701-2706
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Leoni Chiara¹²,Stevenson David A.²,Geiersbach Katherine B.³⁴,Paxton Christian N.³,Krock Bryan L.³⁴,Mao Rong³⁴,Rope Alan F.²

Affiliation:

1. Center for Rare Diseases; Departments of Pediatrics; Catholic University; Rome Italy

2. University of Utah; Department of Pediatrics; Division of Medical Genetics; Salt Lake City Utah

3. ARUP Institute for Clinical and Experimental Pathology; ARUP Laboratories; Salt Lake City Utah

4. University of Utah Department of Pathology; Salt Lake City Utah

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat methods,2010

2. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome;Ben-Shachar;Am J Hum Genet,2008

3. A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population;Botto;Pediatrics,2003

4. Prenatal diagnosis of a 22q11 deletion in a second-trimester fetus with conotruncal anomaly, absent thymus and meningomyelocele: Kousseff syndrome;Canda;J Obstet Gynaecol Res,2012

5. Exome Variant Server NHLBI GO Exome Sequencing Project (ESP), Seattle, WA (URL http://evs.gs.washington.edu/EVS/

Cited by 7 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. Risk of meningomyelocele mediated by the common 22q11.2 deletion;Science;2024-05-03

2. Implication of chromosomal microarray analysis prior to in‐utero repair of fetal open neural tube defect;Ultrasound in Obstetrics & Gynecology;2023-06

3. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome;Genetics in Medicine;2023-03

4. Closing in on Mechanisms of Open Neural Tube Defects;Trends in Neurosciences;2020-07

5. Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish;Human Mutation;2018-01-11

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