High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

Published:2022-12-06 Issue:3 Volume:31 Page:296-303
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Belanger Deloge Raymond^ORCID,Zhao Xiaonan,Luna Pamela N.,Shaw Chad A.,Rosenfeld Jill A.^ORCID,Scott Daryl A.^ORCID

Funder

U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01255-y.pdf

Reference49 articles.

1. Wood RJ, Levitt MA. Anorectal malformations. Clin Colon Rectal Surg. 2018;31:061–70.

2. Wijers CH, van Rooij IA, Marcelis CL, Brunner HG, de Blaauw I, Roeleveld N. Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review. Birth Defects Res Part C: Embryo Today: Rev. 2014;102:382–400.

3. Dworschak GC, Zwink N, Schmiedeke E, Mortazawi K, Märzheuser S, Reinshagen K, et al. Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance. Orphanet J Rare Dis. 2017;12:180.

4. Khanna K, Sharma S, Pabalan N, Singh N, Gupta D. A review of genetic factors contributing to the etiopathogenesis of anorectal malformations. Pediatr Surg Int. 2018;34:9–20.

5. Kause F, Zhang R, Ludwig M, Schmiedeke E, Rissmann A, Thiele H, et al. HSPA6: a new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res. 2019;111:591–7.

Cited by 5 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. Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature;European Journal of Medical Genetics;2024-06

2. Multidisciplinary strategies for managing acute watery diarrhea in children with congenital anorectal malformation and colostomy: A case study;Clinical Case Reports;2023-10

3. Etiological concepts of gastrointestinal malformations/atresias;Monatsschrift Kinderheilkunde;2023-05-08

4. Genes=disease (?);European Journal of Human Genetics;2023-03

5. High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations;European Journal of Human Genetics;2023-01-04

同舟云学术

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