Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (<i>ACTG2</i>, <i>MYH11</i>, <i>FLNA</i>, <i>MYLK</i>, <i>RAD21</i>, <i>MYL9</i> and <i>LMOD1</i>)
Author:
Affiliation:
1. APHM, Timone Enfant, Pediatric Multidisciplinary Department, Marseille, France.
2. Aix-Marseille Université, INSERM, GMGF, Marseille, France.
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/irdr/11/3/11_2022.01060/_pdf
Reference39 articles.
1. 1. Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, Donovan C. Megacystis-microcolon-intestinal hypoperistalsis syndrome: A new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. AJR Am J Roentgenol. 1976; 126:957-964
2. 2. Puri P, Shinkai M. Megacystis microcolon intestinal hypoperistalsis syndrome. Semin Pediatr Surg. 2005; 14:58-63.
3. 3. Thapar N, Saliakellis E, Benninga MA, Borrelli O, Curry J, Faure C, De Giorgio R, Gupte G, Knowles CH, Staiano A, Vandenplas Y, Di Lorenzo C. Paediatric intestinal pseudo-obstruction: Evidence and consensus-based recommendations from an ESPGHAN-led expert group. J Pediatr Gastroenterol Nutr. 2018; 66:991-1019.
4. 4. Lashley DB, Masliah E, Kaplan GW, McAleer IM. Megacystis microcolon intestinal hypoperistalsis syndrome: bladder distension and pyelectasis in the fetus without anatomic ooutflow obstruction. Urology. 2000; 55:774.
5. 5. Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, Miller R. Megacystis-microcolon-intestinal hypoperistalsis syndrome: Case report and review of prenatal ultrasonographic findings. Fetal Diagn Ther. 2014; 36:74-80.
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. Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder;Journal of Pediatric Genetics;2024-07-04
2. Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A);Intractable & Rare Diseases Research;2024-05-31
3. Bowel function and inflammation: Is motility the other side of the coin?;World Journal of Gastroenterology;2024-04-14
4. Because secondary intestinal pseudo‐obstruction is potentially treatable, its etiology needs to be clarified;Neurogastroenterology & Motility;2024-01-02
5. Regulatory role of FOXQ1 gene and its target genes in colorectal cancer;AIMS Medical Science;2024
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