Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Xiang-Yi Jing"'
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 6, Pp 886-890 (2016)
Objective: Smith–Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of R
Externí odkaz:
https://doaj.org/article/8f2fd70a3b1548e6a5b0070bca4ac6bb
Publikováno v:
European Journal of Obstetrics & Gynecology and Reproductive Biology. 284:16-19
Autor:
Fang Fu, Chen Chen, Kun Du, Lu-shan Li, Ru Li, Ting-ying Lei, Qiong Deng, Dan Wang, Qiu-xia Yu, Xin Yang, Jin Han, Min Pan, Li Zhen, Li-na Zhang, Jian Li, Fa-tao Li, Yong-ling Zhang, Xiang-yi Jing, Fu-cheng Li, Dong-zhi Li, Can Liao
Publikováno v:
Molecular Neurobiology. 60:2986-3003
The Dandy–Walker malformation (DWM) is characterized by neuron dysregulation in embryonic development; however, the regulatory mechanisms associated with it are unclear. This study aimed to investigate the role of NADH dehydrogenase 1 alpha subcomp
Publikováno v:
European Journal of Obstetrics & Gynecology and Reproductive Biology. 279:1-4
To determine the fetal ultrasound findings associated with Sotos syndrome caused by deletions at 5q35 including the NSD1 and a point mutation in this gene.This was a retrospective study of eight pregnancies with fetal Sotos syndrome identified by chr
Publikováno v:
Molecular Syndromology. 14:59-64
Introduction: HNF1B-associated diseases are a group of genetic conditions that affect the kidney as well as other organ systems. Kidney anomalies are the most common symptoms. Other defects may include early-onset diabetes, genital abnormalities, and
Autor:
Fang Fu, Ru Li, Qiu-Xia Yu, Xiao Dang, Shu-Juan Yan, Hang Zhou, Ken Cheng, Rui-Bin Huang, You Wang, Yong-Ling Zhang, Xiang-Yi Jing, Li-Na Zhang, Dong-Zhi Li, Can Liao
Publikováno v:
Genes; Volume 13; Issue 12; Pages: 2365
Currently, there are still many challenges in prenatal diagnosis, such as limited or uncertain fetal phenotyping, variant interpretation, and rapid turnaround times. The aim of this study was to illustrate the value of a comprehensive genomic evaluat
Publikováno v:
Prenatal diagnosisREFERENCES. 42(12)
To present both our center's and previously reported experience of prenatal diagnosis of Coffin-Siris syndrome (CSS) with regard to the laboratory testing and fetal features of this syndrome.This was a retrospective study of eight pregnancies with fe
Publikováno v:
European journal of obstetrics, gynecology, and reproductive biology. 274
To present the experience on prenatal diagnosis of Miller-Dieker syndrome (MDS)/PAFAH1B1-related lissencephaly to further determine fetal phenotypes of this syndrome.This was a retrospective study of ten pregnancies with fetal MDS/PAFAH1B1-related li
Publikováno v:
Congenital anomaliesREFERENCES. 61(4)
Autor:
Fang, Fu, Yan, Li, Ru, Li, Ting-Ying, Lei, Dan, Wang, Xin, Yang, Jin, Han, Min, Pan, Li, Zhen, Yan-Mei, Ou, Jian, Li, Fao-Tao, Li, Xiang-Yi, Jing, Dong-Zhi, Li, Can, Liao
Publikováno v:
American journal of translational research. 10(1)
Dandy-Walker malformation (DWM) is the most prevalent congenital malformation in cerebellum, however, pathological mechanism of DWM has not been fully clarified. This study aims to investigate effects of NDUFA4 on growth of neurons. LV5-NDUFA4 and LV