Literature DB >> 26525746

Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

Lyn S Chitty1, Jan M Friedman2, Sylvie Langlois2.   

Abstract

Entities:  

Mesh：

Year:  2015        PMID： 26525746     DOI： 10.1002/pd.4718

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


× No keyword cloud information.
  3 in total

1.  First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects.

Authors:  Constantinos Pangalos; Birgitta Hagnefelt; Konstantinos Lilakos; Christopher Konialis
Journal:  PeerJ       Date:  2016-04-26       Impact factor: 2.984

2.  Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.

Authors:  Christopher Konialis; Efstratios Assimakopoulos; Birgitta Hagnefelt; Sophia Karapanou; Alexandros Sotiriadis; Constantinos Pangalos
Journal:  Clin Case Rep       Date:  2017-02-04

Review 3.  Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.

Authors:  Yongbing Guo; Huijing Zhang; Lixin Fan; Junya Chen; Xiaoxiao Zhang; Huixia Yang; Yu Sun
Journal:  BMC Pregnancy Childbirth       Date:  2022-01-17       Impact factor: 3.007
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.