Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD
about
Medical sequencing of candidate genes for nonsyndromic cleft lip and palateIdentification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key PlayerPhysiology, pathology and relatedness of human tissues from gene expression meta-analysis.Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.The determination factors of left-right asymmetry disorders- a short review.Gene expression in pediatric heart disease with emphasis on conotruncal defects.Review of genetic factors in intestinal malrotation.Genetic basis of congenital cardiovascular malformationsDuplication and deletion of CFC1 associated with heterotaxy syndromeIdentification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.Genetics of human heterotaxias.Novel GATA5 loss-of-function mutations underlie familial atrial fibrillationMutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.Differentiation of cardiac Purkinje fibers requires precise spatiotemporal regulation of Nkx2-5 expression.Shox2 is essential for the differentiation of cardiac pacemaker cells by repressing Nkx2-5.Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.Left-right asymmetry in gut development: what happens next?Stem cell models of cardiac development and disease.Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillationGenetic basis of human left-right asymmetry disorders.Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.Mutation spectrum of the GATA4 gene in patients with idiopathic atrial fibrillation.Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa.Ectopic expression of Nkx2.5 suppresses the formation of the sinoatrial node in miceNkx2-5 Regulates Tdgf1 (Cripto) Early During Cardiac Development.The role of Shox2 in SAN development and function.Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene?Novel copy-number variants in a population-based investigation of classic heterotaxy.A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?Localization of candidate regions for a novel gene for Kartagener syndrome
P2860
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P2860
Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Two novel frameshift mutations ...... sus and sinus venosus type ASD
@ast
Two novel frameshift mutations ...... sus and sinus venosus type ASD
@en
Two novel frameshift mutations ...... sus and sinus venosus type ASD
@nl
type
label
Two novel frameshift mutations ...... sus and sinus venosus type ASD
@ast
Two novel frameshift mutations ...... sus and sinus venosus type ASD
@en
Two novel frameshift mutations ...... sus and sinus venosus type ASD
@nl
prefLabel
Two novel frameshift mutations ...... sus and sinus venosus type ASD
@ast
Two novel frameshift mutations ...... sus and sinus venosus type ASD
@en
Two novel frameshift mutations ...... sus and sinus venosus type ASD
@nl
P2093
P356
P1476
Two novel frameshift mutations ...... sus and sinus venosus type ASD
@en
P2093
P304
P356
10.1136/JMG.39.11.807
P407
P577
2002-11-01T00:00:00Z