LPP拷贝数及序列变化对食管闭锁、食管气管瘘和VACTERL综合征的影响。 - Suppr

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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Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.LPP拷贝数及序列变化对食管闭锁、食管气管瘘和VACTERL综合征的影响。

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

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?新生儿食管闭锁：从孤立型到完全 VACTERL 表型的广泛谱？

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Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum.关于一级亲属中单纯食管闭锁伴或不伴气管食管瘘复发风险的第二项研究：无证据表明食管闭锁/气管食管瘘复发风险增加或VATER/VACTERL联合征谱畸形风险增加。

Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):786-91. doi: 10.1002/bdra.23205. Epub 2013 Dec 5.

Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study.畸形与食管闭锁/气管食管瘘相关的模式：一项回顾性单中心研究。

Am J Med Genet A. 2020 Jun;182(6):1351-1363. doi: 10.1002/ajmg.a.61582. Epub 2020 Apr 6.

Etiological heterogeneity and clinical variability in newborns with esophageal atresia.食管闭锁新生儿的病因异质性和临床变异性。

Ital J Pediatr. 2018 Jan 26;44(1):19. doi: 10.1186/s13052-018-0445-5.

Structural and numerical changes of chromosome X in patients with esophageal atresia.食管闭锁患者X染色体的结构和数量变化。

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Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.椎体缺损、肛门闭锁、心脏缺损、气管食管瘘/食管闭锁、肾脏缺损和肢体缺损与 Mayer-Rokitansky-Küster-Hauser 综合征同时出现：两例病例报告及文献复习

J Med Case Rep. 2016 Dec 21;10(1):374. doi: 10.1186/s13256-016-1127-9.

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.VATER/VACTERL综合征的潜在遗传因素，特别关注“肾脏”表型

Pediatr Nephrol. 2016 Nov;31(11):2025-33. doi: 10.1007/s00467-016-3335-3. Epub 2016 Feb 8.

VACTERL associations in children undergoing surgery for esophageal atresia and anorectal malformations: Implications for pediatric surgeons.接受食管闭锁和肛门直肠畸形手术的儿童中的VACTERL综合征：对小儿外科医生的启示

J Pediatr Surg. 2015 Aug;50(8):1245-50. doi: 10.1016/j.jpedsurg.2015.02.049. Epub 2015 Mar 10.

Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association.法洛四联症和VACTERL综合征患者中含脂瘤优先易位伴侣的LIM结构域基因单倍剂量不足。

Am J Med Genet A. 2010 Nov;152A(11):2919-23. doi: 10.1002/ajmg.a.33718.

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A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.一种新的持续性泄殖腔相关 VACTERL 表型与 8p23 和 12q23.1 突变的基因型表型之间的关系。

Pediatr Res. 2024 Apr;95(5):1246-1253. doi: 10.1038/s41390-023-02928-0. Epub 2023 Dec 22.

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。

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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.

The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.VACTERL综合征中椎体异常的遗传图谱及临床意义

J Med Genet. 2016 Jul;53(7):431-7. doi: 10.1136/jmedgenet-2015-103554. Epub 2016 Apr 15.

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.VATER/VACTERL综合征的潜在遗传因素，特别关注“肾脏”表型

Pediatr Nephrol. 2016 Nov;31(11):2025-33. doi: 10.1007/s00467-016-3335-3. Epub 2016 Feb 8.

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.

VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.VACTERL综合征病因：新发及罕见拷贝数变异的影响

Mol Syndromol. 2013 Feb;4(1-2):20-6. doi: 10.1159/000345577.

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Mol Syndromol. 2013 Feb;4(1-2):7-15. doi: 10.1159/000346192.

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

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