II型成骨不全症：产前诊断及其与颈部透明带增厚和颅骨低回声的相关性 - Suppr | 超能文献

Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium.

作者信息

Chen Chih-Ping, Su Yi-Ning, Chang Tung-Yao, Huang Ming-Chao, Pan Chun-Heng, Chern Schu-Rern, Su Jun-Wei, Wang Wayseen

出版信息

Taiwan J Obstet Gynecol. 2012 Jun;51(2):315-8. doi: 10.1016/j.tjog.2012.04.032.

DOI:10.1016/j.tjog.2012.04.032

Abstract

摘要

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium.II型成骨不全症：产前诊断及其与颈部透明带增厚和颅骨低回声的相关性

Taiwan J Obstet Gynecol. 2012 Jun;51(2):315-8. doi: 10.1016/j.tjog.2012.04.032.

2

Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester.孕早期因成骨不全症表现为颈项透明层厚度增加的胎儿。

J Clin Ultrasound. 2008 Feb;36(2):119-22. doi: 10.1002/jcu.20360.

3

Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II.在一名II型成骨不全胎儿中鉴定出一种COL1A2突变，该突变在外显子19和内含子19中存在跨越编码序列和内含子序列的缺失。

Taiwan J Obstet Gynecol. 2012 Jun;51(2):312-4. doi: 10.1016/j.tjog.2012.04.031.

4

Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.II型成骨不全症的产前诊断，描述COL1A1基因中的一种新突变。

Prenat Diagn. 2006 Apr;26(4):394. doi: 10.1002/pd.1428.

5

[Increased nuchal translucency in osteogenesis imperfecta].[成骨不全症中颈项透明层增厚]

Ugeskr Laeger. 2011 Mar 28;173(13):973-4.

6

Osteogenesis imperfecta associated with increased nuchal translucency as a first ultrasound sign: report of another case.以颈项透明层增厚为首发超声表现的成骨不全：另一病例报告

Ultrasound Obstet Gynecol. 2003 Feb;21(2):200-2. doi: 10.1002/uog.43.

7

Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing.VIII型成骨不全：与颈项透明层增厚的关联及通过靶向外显子组测序进行产前诊断

Eur J Obstet Gynecol Reprod Biol. 2019 Apr;235:128-129. doi: 10.1016/j.ejogrb.2018.10.022. Epub 2018 Oct 9.

8

Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester.成骨不全及其他在孕早期表现为颈项透明层增厚的骨骼发育异常。

Am J Med Genet. 2001 Jan 15;98(2):117-20.

9

Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II.

Taiwan J Obstet Gynecol. 2012 Jun;51(2):308-11. doi: 10.1016/j.tjog.2012.04.030.

10

Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy.妊娠早期胎儿运动不能变形序列征伴颈项透明层增厚。

Fetal Diagn Ther. 2004 Jul-Aug;19(4):332-5. doi: 10.1159/000077961.

引用本文的文献

1

[Lethal osteogenesis imperfecta: antenatal diagnosis].[致死性成骨不全：产前诊断]

Pan Afr Med J. 2016 Oct 17;25:88. doi: 10.11604/pamj.2016.25.88.5871. eCollection 2016.

2

A case of fetal osteogenesis imperfecta type 2A: longitudinal observation of natural course in utero and pitfalls for prenatal ultrasound diagnosis.1例2A型胎儿成骨不全：宫内自然病程的纵向观察及产前超声诊断的陷阱

J Med Ultrason (2001). 2015 Oct;42(4):565-70. doi: 10.1007/s10396-015-0645-1. Epub 2015 Jun 24.