Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201686.pdf
Reference50 articles.
1. Felix JF, de Jong EM, Torfs CP, de Klein A, Rottier RJ, Tibboel D : Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: an overview of the current concepts. Birth Defects Res 2009; 85: 747–754.
2. Pedersen RN, Calzolari E, Husby S, Garne E : Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions. Arch Dis Child 2012; 97: 227–232.
3. Genevieve D, de Pontual L, Amiel J, Sarnacki S, Lyonnet S : An overview of isolated and syndromic oesophageal atresia. Clin Genet 2007; 71: 392–399.
4. Quan L, Smith DW : The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects. J Pediatr 1973; 82: 104–107.
5. Temtamy SA, Miller JD : Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr 1974; 85: 345–349.
Cited by 28 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. A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1;Pediatric Research;2023-12-22
2. Etiological concepts of gastrointestinal malformations/atresias;Monatsschrift Kinderheilkunde;2023-05-08
3. Esophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes;Cureus;2023-02-08
4. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus;American Journal of Medical Genetics Part A;2022-09-22
5. Re‐sequencing of candidate genes FOXF1 , HSPA6 , HAAO , and KYNU in 522 individuals with VATER / VACTERL , VACTER / VACTERL ‐like association, and isolated anorectal malformation;Birth Defects Research;2022-03-31
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3