• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

相似文献

1
Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome.巨膀胱-小结肠-肠蠕动不良综合征中的宫内死亡
J Med Genet. 1988 May;25(5):350-1. doi: 10.1136/jmg.25.5.350.
2
Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18.18三体综合征中的巨膀胱-小结肠-肠蠕动减弱综合征及无神经节症
Am J Med Genet. 2001 Aug 15;102(3):293-6.
3
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.巨膀胱-小结肠-肠蠕动减弱综合征:常染色体隐性遗传的确证
J Med Genet. 1986 Aug;23(4):360-2. doi: 10.1136/jmg.23.4.360.
4
Megacystis-microcolon-intestinal hypoperistalsis syndrome.巨膀胱-小结肠-肠蠕动不良综合征
J Pediatr Gastroenterol Nutr. 1997 Jul;25(1):12-9. doi: 10.1097/00005176-199707000-00002.
5
The megacystis-microcolon-intestinal hypoperistalsis syndrome: report of a case and review of the literature.巨膀胱-小结肠-肠蠕动不良综合征:1例报告及文献复习
Turk J Pediatr. 1996 Jan-Mar;38(1):137-41.
6
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy.
J Pediatr Surg. 1983 Feb;18(1):64-9. doi: 10.1016/s0022-3468(83)80275-9.
7
The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.巨膀胱-小结肠-肠蠕动不良综合征:一种致命的常染色体隐性疾病。
J Med Genet. 1989 Jan;26(1):66-7. doi: 10.1136/jmg.26.1.66.
8
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): a case report.巨膀胱-小结肠-肠蠕动减弱综合征(MMIHS):一例报告
Changgeng Yi Xue Za Zhi. 1998 Mar;21(1):92-6.
9
Sonographic findings in a fetus with megacystis-microcolon-intestinal hypoperistalsis syndrome.巨膀胱-小结肠-肠蠕动不良综合征胎儿的超声检查结果
J Clin Ultrasound. 1998 May;26(4):217-20. doi: 10.1002/(sici)1097-0096(199805)26:4<217::aid-jcu8>3.0.co;2-g.
10
Megacystis-microcolon-intestinal hypoperistalsis syndrome: survival of a male infant.巨膀胱-小结肠-肠蠕动不良综合征:一名男婴的存活情况
J Pediatr Surg. 1985 Jun;20(3):279-81. doi: 10.1016/s0022-3468(85)80122-6.

引用本文的文献

1
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.平滑肌肌动蛋白(ACTG2)基因的杂合性新生突变和遗传突变是巨膀胱-小结肠-肠蠕动不良综合征的病因。
PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.
2
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.家族性巨膀胱-小结肠-肠蠕动不良综合征:一项系统评价
Pediatr Surg Int. 2013 Sep;29(9):947-51. doi: 10.1007/s00383-013-3357-x.
3
Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome.巨膀胱-小结肠-肠蠕动不良综合征的产前诊断
J Med Genet. 1989 Jun;26(6):403-6. doi: 10.1136/jmg.26.6.403.

本文引用的文献

1
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn.
Br J Radiol. 1980 Mar;53(627):249-52. doi: 10.1259/0007-1285-53-627-249.
2
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy.
J Pediatr Surg. 1983 Feb;18(1):64-9. doi: 10.1016/s0022-3468(83)80275-9.
3
Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: common pathogenesis?
Pediatr Radiol. 1983;13(5):294-6. doi: 10.1007/BF00973353.
4
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.巨膀胱-小结肠-肠蠕动减弱综合征:常染色体隐性遗传的确证
J Med Genet. 1986 Aug;23(4):360-2. doi: 10.1136/jmg.23.4.360.
5
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls.巨膀胱-小结肠-肠蠕动减少综合征:新生儿肠梗阻的一个新病因。5例新生儿女孩的放射学表现报告。
AJR Am J Roentgenol. 1976 May;126(5):957-64. doi: 10.2214/ajr.126.5.957.

巨膀胱-小结肠-肠蠕动不良综合征中的宫内死亡

Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome.

作者信息

Farrell S A

机构信息

Division of Genetics, Credit Valley Hospital, Mississauga, Ontario, Canada.

出版信息

J Med Genet. 1988 May;25(5):350-1. doi: 10.1136/jmg.25.5.350.

DOI:10.1136/jmg.25.5.350
PMID:3385744
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050465/
Abstract

Megacystis-microcolon-intestinal hypoperistalsis syndrome is an uncommon condition, possibly inherited as an autosomal recessive trait. This report describes an affected sib pair with intrauterine death of one of the sibs.

摘要

巨膀胱-小结肠-肠蠕动不良综合征是一种罕见病症,可能作为常染色体隐性性状遗传。本报告描述了一对患病的同胞兄弟,其中一人在子宫内死亡。