Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome

Kehrer Christina; Hoischen Alexander; Menkhaus Ralf; Schwab Eva; Mueller Andreas; Kim Sarah; Kreiss Martina; Weitensteiner Valerie; Hilger Alina; Berg Christoph; Geipel Anne; Reutter Heiko; Gembruch Ulrich

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Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome

机译：完整外显子组测序和基于阵列的分子核型分析可帮助疑似Simpson-Golabi-Behmel综合征的胎儿进行产前诊断

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ObjectiveSimpson-Golabi-Behmel (SGBS) syndrome type 1 and type 2 represent rare X-linked prenatal overgrowth disorders. The aim of our study is to describe the prenatal sonographic features as well as the genetic work-up.

机译：目的Simpson-Golabi-Behmel（SGBS）综合征1型和2型代表罕见的X连锁产前过度生长疾病。我们研究的目的是描述产前超声检查特征以及遗传检查。

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《Prenatal Diagnosis》 |2016年第10期|共5页
作者
Kehrer Christina; Hoischen Alexander; Menkhaus Ralf; Schwab Eva; Mueller Andreas; Kim Sarah; Kreiss Martina; Weitensteiner Valerie; Hilger Alina; Berg Christoph; Geipel Anne; Reutter Heiko; Gembruch Ulrich;
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正文语种 eng
中图分类妇科学;
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1. Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome [J] . Kehrer Christina, Hoischen Alexander, Menkhaus Ralf, Prenatal Diagnosis . 2016,第10期

机译：完整外显子组测序和基于阵列的分子核型分析可帮助疑似Simpson-Golabi-Behmel综合征的胎儿进行产前诊断
2. Comment on “Whole exome sequencing and array‐based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson‐Golabi‐Behmel syndrome” [J] . Fauth Christine, Toutain Annick Prenatal Diagnosis . 2017,第10期

机译：评论“基于全面测序和基于阵列的分子核型分化作为令人疑似SIMPSON-GOLABI-BEGMEL综合征的胎儿产前诊断的辅助助剂”
3. Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses [J] . Jingjing Xiang, Qin Zhang, Xiaoyan Song, Journal of International Medical Research . 2020,第1期

机译：整体exome测序有助于在两只雄性胎儿中诊断Simpson-golabi-Behmel综合征
4. Whole Exome Sequencing Approach to Identify Genetic Variants Causing Sudden Unexplained Death Syndrome [C] . Seok-Hwee Koo, Paul Chui, Chee Seng Ku, Molecular Medicine TRI-CON. . 2014

机译：识别遗传变异突然未解释的死亡综合征的整体exome测序方法
5. Informed Decision-making of Undertaking DNA-sequencing Based Non-invasive Prenatal Testing (NIPT) for Down Syndrome among Pregnant Women in Hong Kong: A Qualitative Study [D] . Lau, Ying Chui Janice. 2015

机译：知情决策在香港孕妇的唐氏综合征中进行DNA测序的非侵袭性产前试验（NIPT）：定性研究
6. Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmelsyndrome in two male fetuses [O] . Jingjing Xiang, Qin Zhang, Xiaoyan Song, 2020

机译：完整的外显子组测序有助于诊断Simpson–Golabi–Behmel两名男性胎儿综合征
7. OC21.06: Whole‐exome sequencing and whole‐genome sequencing improves genetic diagnosis of fetuses with heterotaxy syndrome revealed by prenatal ultrasound [O] . Y. Tong, H. Sun, Y. Fu, 2019

机译：OC21.06：全外序测序和全基因组测序改善了产前超声波透露的异也综合征的胎儿遗传诊断

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome

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