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Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.

作者信息

Hernández-García Andrés, Brosens Erwin, Zaveri Hitisha P, de Jong Elisabeth M, Yu Zhiyin, Namwanje Maria, Mayle Allison, Fernandes Caraciolo J, Lee Brendan, Blazo Maria, Lalani Seema R, Tibboel Dick, de Klein Annelies, Scott Daryl A

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

出版信息

Am J Med Genet A. 2012 Jul;158A(7):1785-7. doi: 10.1002/ajmg.a.35391. Epub 2012 May 25.

DOI:10.1002/ajmg.a.35391
PMID:22639458
Abstract
摘要

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引用本文的文献

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Pediatr Res. 2024 Apr;95(5):1246-1253. doi: 10.1038/s41390-023-02928-0. Epub 2023 Dec 22.
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Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.对 450 名肛门直肠畸形患者进行全基因组范围内的致病拷贝数变异的鉴定。
Eur J Hum Genet. 2023 Jan;31(1):105-111. doi: 10.1038/s41431-022-01216-5. Epub 2022 Nov 1.
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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
一种以遗传学优先的方法揭示了肛门直肠畸形（ARM）和脊柱、肛门、心脏、气管、食管及肾脏联合畸形（VACTERL）患者的单基因疾病。
Front Pediatr. 2020 Jun 23;8:310. doi: 10.3389/fped.2020.00310. eCollection 2020.
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J Med Genet. 2016 Jul;53(7):431-7. doi: 10.1136/jmedgenet-2015-103554. Epub 2016 Apr 15.
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Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.使用 180K 寡核苷酸芯片进行 VACTERL 协会的突变筛查和阵列比较基因组杂交。
PLoS One. 2014 Jan 9;9(1):e85313. doi: 10.1371/journal.pone.0085313. eCollection 2014.
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