Chromosome 8p23. 1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
MJ Wat, OA Shchelochkov, AM Holder… - American Journal of …, 2009 - Wiley Online Library
Recurrent interstitial deletion of a region of 8p23. 1 flanked by the low copy repeats 8p‐OR‐
REPD and 8p‐OR‐REPP is associated with a spectrum of anomalies that can include …
REPD and 8p‐OR‐REPP is associated with a spectrum of anomalies that can include …
GATA4 and NKX2. 5 gene analysis in Chinese Uygur patients with congenital heart disease
W Zhang, X Li, Z Ma, J Zhang, S Zhou, T Li… - Chinese medical …, 2009 - mednexus.org
Background Congenital heart disease (CHD) is the most common developmental anomaly
in newborns. The germline mutations in GATA4 and NKX2. 5 genes have been identified as …
in newborns. The germline mutations in GATA4 and NKX2. 5 genes have been identified as …
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects
H Hamanoue, SE Rahayuningsih, Y Hirahara… - Cardiology in the …, 2009 - cambridge.org
We analysed the GATA binding protein 4 gene, or GATA4, along with the NK2 transcription
factor related, locus 5 gene, or NKX2. 5, to determine their genetic contribution to 104 …
factor related, locus 5 gene, or NKX2. 5, to determine their genetic contribution to 104 …
Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale
R Belvís, EF Tizzano, J Martí-Fàbregas, RG Leta… - Clinical neurology and …, 2009 - Elsevier
OBJECTIVE: Patent foramen ovale (PFO) has been related to stroke but its existence has not
been explained to date. NKX2-5 is the most implicated gene in fetal atrial septation. We …
been explained to date. NKX2-5 is the most implicated gene in fetal atrial septation. We …
法乐四联症患儿NKX2. 5, TBX5, GATA4 基因的表达研究
石琳， 李晓峰， 申阿东， 陆进， 柏松， 袁峰， 高国庆… - 中国循环杂志, 2009 - cqvip.com
目的: 探讨NKX2. 5, TBX5, GATA4 基因与法乐四联症的发病关系及法乐四联症形成的分子机制.
方法: 10 例法乐四联症患儿(法乐四联症组), 为我院2005.06 至2005-12 心脏中心住院患儿 …
方法: 10 例法乐四联症患儿(法乐四联症组), 为我院2005.06 至2005-12 心脏中心住院患儿 …
GATA4 基因突变与散发型先天性心脏病
林小平， 陈义汉 - 同济大学学报: 医学版, 2009 - cqvip.com
目的识别GATA4 基因在中国汉族先天性心脏病人群中的变异. 方法对348
例散发型先天性心脏病病例的GATA4 基因进行直接测序筛查, 以寻找新的变异. 结果在2 …
例散发型先天性心脏病病例的GATA4 基因进行直接测序筛查, 以寻找新的变异. 结果在2 …
汉族先天性房室间隔畸形患者GATA-4 基因的突变分析
陈名武， 庞玉生， 郭颖， 刘炳丽， 沈捷， 宋怀东… - 中华心血管病杂志, 2009 - cqvip.com
目的探讨先天性房室间隔畸形患者GATA-4 基因突变情况以及其基因型和表现型之间的关系.
方法选择50 例汉族先天性房室间隔畸形患者和100 名汉族健康者, 用聚合酶链反应方法扩增 …
方法选择50 例汉族先天性房室间隔畸形患者和100 名汉族健康者, 用聚合酶链反应方法扩增 …
[PDF][PDF] Improving our insight in the genetic origin of congenital heart defects using array comparative genome hybridization
B Thienpont - 2009 - lirias.kuleuven.be
Het chromosomenonderzoek vormt nog steeds een van de hoekstenen van het genetisch
onderzoek bij kinderen met een aangeboren hartafwijking. In dit onderzoek worden de …
onderzoek bij kinderen met een aangeboren hartafwijking. In dit onderzoek worden de …
[图书][B] Genetic counseling for adults with Non-Syndromic Congenital Heart Defects-a review of the reproductive and psychological implications and appropriate …
P Ramaswamy - 2009 - search.proquest.com
The purpose of this paper was to look at the latest research on genetic counseling for adults
with Non-Syndromic Congenital Heart Defects, CHDs. Recent studies have demonstrated …
with Non-Syndromic Congenital Heart Defects, CHDs. Recent studies have demonstrated …