产前小头畸形：外显子组测序有助于快速确定致病病因。 - Suppr | 超能文献

Prenatal microcephaly: Exome sequencing aids rapid determination of causative etiologies.

作者信息

Chen Gui-Lan, Zhen Li, Li Dong-Zhi

机构信息

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, China.

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, China.

出版信息

Eur J Obstet Gynecol Reprod Biol. 2022 May;272:259-261. doi: 10.1016/j.ejogrb.2022.03.030. Epub 2022 Mar 15.

DOI:10.1016/j.ejogrb.2022.03.030

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

Prenatal microcephaly: Exome sequencing aids rapid determination of causative etiologies.产前小头畸形：外显子组测序有助于快速确定致病病因。

Eur J Obstet Gynecol Reprod Biol. 2022 May;272:259-261. doi: 10.1016/j.ejogrb.2022.03.030. Epub 2022 Mar 15.

2

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.在中国一个连续两胎胎儿严重小头畸形的家系中，鉴定出非编码 RNU4ATAC 基因的复合杂合变异。

Hum Genomics. 2018 Jan 25;12(1):3. doi: 10.1186/s40246-018-0135-9.

3

Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.应用全外显子组测序对 Mowat-Wilson 综合征进行胎儿诊断。

Am J Med Genet A. 2019 Oct;179(10):2152-2157. doi: 10.1002/ajmg.a.61295. Epub 2019 Jul 19.

4

CEP135 associated primary microcephaly-A rare presentation in early second trimester.CEP135 相关的原发性小头畸形——早孕期二联征中的一种罕见表现。

Eur J Med Genet. 2021 Jul;64(7):104233. doi: 10.1016/j.ejmg.2021.104233. Epub 2021 Apr 30.

5

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.应用医学三联体外显子组测序技术快速进行骨骼发育不良的产前诊断：有利于产前咨询和妊娠管理。

Prenat Diagn. 2020 Apr;40(5):577-584. doi: 10.1002/pd.5653. Epub 2020 Feb 10.

6

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.全外显子组测序鉴定 1 例原发性小头畸形患儿 TTI2 基因纯合突变：病例报告

BMC Neurol. 2020 Feb 15;20(1):58. doi: 10.1186/s12883-020-01643-1.

7

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.PCDH12功能丧失是模仿宫内感染的隐性小头畸形的基础。

Neurology. 2016 May 24;86(21):2016-24. doi: 10.1212/WNL.0000000000002704. Epub 2016 Apr 29.

8

Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing.通过外显子组测序解析 87 个印度家庭小头畸形的分子图谱。

Eur J Med Genet. 2022 Jun;65(6):104520. doi: 10.1016/j.ejmg.2022.104520. Epub 2022 May 12.

9

Challenges in variant interpretation in prenatal exome sequencing.产前外显子组测序中变异解读的挑战。

Eur J Med Genet. 2022 Feb;65(2):104410. doi: 10.1016/j.ejmg.2021.104410. Epub 2021 Dec 21.

10

Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family.小头畸形原发性遗传（MCPH）：越南一个家系中新型 ASPM 变异及产前诊断的报告。

Taiwan J Obstet Gynecol. 2021 Sep;60(5):907-910. doi: 10.1016/j.tjog.2021.07.022.

引用本文的文献

1

A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation.一例 TREX1 基因突变导致的 Aicardi-Goutières 综合征。

BMC Pregnancy Childbirth. 2023 Feb 22;23(1):124. doi: 10.1186/s12884-023-05436-5.