Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
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Cytogenomic Aberrations in Congenital Cardiovascular MalformationsBioengineering and Stem Cell Technology in the Treatment of Congenital Heart DiseaseArray comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysisOf mice and men: molecular genetics of congenital heart diseaseWhat Is New in Genetics of Congenital Heart Defects?Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsIdentification of rare genetic variants in novel loci associated with Paget's disease of bone.Contribution of rare copy number variants to isolated human malformations.FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.Genome-wide association study of maternal and inherited effects on left-sided cardiac malformationsDirected differentiation of patient-specific induced pluripotent stem cells identifies the transcriptional repression and epigenetic modification of NKX2-5, HAND1, and NOTCH1 in hypoplastic left heart syndrome.Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.Tetralogy of Fallot and Hypoplastic Left Heart Syndrome - Complex Clinical Phenotypes Meet Complex Genetic NetworksDe novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions.The complex genetics of hypoplastic left heart syndrome.Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart SyndromeRare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesRbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.Concise Review: Cardiac Disease Modeling Using Induced Pluripotent Stem Cells.An induced pluripotent stem cell model of hypoplastic left heart syndrome (HLHS) reveals multiple expression and functional differences in HLHS-derived cardiac myocytes.Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis.Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition.Notch Signaling in Development, Tissue Homeostasis, and Disease.Familial Screening for Left-Sided Congenital Heart Disease: What Is the Evidence? What Is the Cost?Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects.Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.NOTCH1-Dependent Nitric Oxide Signaling Deficiency in Hypoplastic Left Heart Syndrome Revealed Through Patient-Specific Phenotypes Detected in Bioengineered Cardiogenesis.Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome.Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.Hypoplastic left heart syndrome and 21q22.3 deletionJAG1Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot
P2860
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P2860
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
@ast
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
@en
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
@nl
type
label
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
@ast
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
@en
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
@nl
prefLabel
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
@ast
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
@en
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
@nl
P2093
P2860
P50
P921
P3181
P1433
P1476
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
@en
P2093
A R Lincesso
D Barachetti
D Federici
D Marchetti
L Galletti
P2860
P304
P3181
P356
10.1111/J.1399-0004.2011.01674.X
P407
P577
2011-04-25T00:00:00Z