Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions
Authors
Keywords
-
Journal
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
Volume 100, Issue 12, Pages 951-964
Publisher
Wiley
Online
2014-07-26
DOI
10.1002/bdra.23279
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Genetics of Congenital Heart Disease
- (2013) Akl C. Fahed et al. CIRCULATION RESEARCH
- The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease
- (2013) Dorothy Warburton et al. HUMAN GENETICS
- Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
- (2012) Rachel Soemedi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
- (2012) Menachem Fromer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features – Is cardiac assessment necessary for all patients with 17p13.3 microduplication?
- (2012) Alvin C.C. Ho et al. European Journal of Medical Genetics
- The role of PKCε-dependent signaling for cardiac differentiation
- (2012) D. Galli et al. HISTOCHEMISTRY AND CELL BIOLOGY
- Chromosomal variation in lymphoblastoid cell lines
- (2012) Matthew D. Shirley et al. HUMAN MUTATION
- The secondary heart field is a new site of calcineurin/Nfatc1 signaling for semilunar valve development
- (2012) Chieh-Yu Lin et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome
- (2012) Ashleigh R. Payne et al. PEDIATRIC CARDIOLOGY
- Human gene copy number spectra analysis in congenital heart malformations
- (2012) Aoy Tomita-Mitchell et al. PHYSIOLOGICAL GENOMICS
- Deficiency of Thioredoxin Binding Protein-2 (TBP-2) Enhances TGF-β Signaling and Promotes Epithelial to Mesenchymal Transition
- (2012) So Masaki et al. PLoS One
- Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways
- (2012) Candice K. Silversides et al. PLoS Genetics
- Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease
- (2012) Marc-Phillip Hitz et al. PLoS Genetics
- Mammalian formin Fhod3 plays an essential role in cardiogenesis by organizing myofibrillogenesis
- (2012) M. Kan-O et al. Biology Open
- A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene
- (2011) Kristiina Avela et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Nfatc1 Coordinates Valve Endocardial Cell Lineage Development Required for Heart Valve Formation
- (2011) Bingruo Wu et al. CIRCULATION RESEARCH
- Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
- (2011) M Iascone et al. CLINICAL GENETICS
- Rare structural variation of synapse and neurotransmission genes in autism
- (2011) X Gai et al. MOLECULAR PSYCHIATRY
- Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry
- (2011) Sehyun Kim et al. NATURE CELL BIOLOGY
- Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
- (2011) Josephine Elia et al. NATURE GENETICS
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Copy Number Variation in Familial Parkinson Disease
- (2011) Nathan Pankratz et al. PLoS One
- Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
- (2011) K. A. Fakhro et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections
- (2010) Li Wang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics
- (2010) Xiaowu Gai et al. BMC BIOINFORMATICS
- Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
- (2010) Laura K. Conlin et al. HUMAN MOLECULAR GENETICS
- Array Comparative Genomic Hybridization as a Diagnostic Tool for Syndromic Heart Defects
- (2010) Jeroen Breckpot et al. JOURNAL OF PEDIATRICS
- Renalase deficiency aggravates ischemic myocardial damage
- (2010) Yanling Wu et al. KIDNEY INTERNATIONAL
- GREAT improves functional interpretation of cis-regulatory regions
- (2010) Cory Y McLean et al. NATURE BIOTECHNOLOGY
- The changing epidemiology of congenital heart disease
- (2010) Teun van der Bom et al. Nature Reviews Cardiology
- Gene knockout of Acc2 has little effect on body weight, fat mass, or food intake
- (2010) D. P. Olson et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy
- (2009) Laëtitia Duboscq-Bidot et al. EUROPEAN HEART JOURNAL
- Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta and hypoplastic left heart syndrome)
- (2009) Kim L McBride et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
- (2009) T. H. Shaikh et al. GENOME RESEARCH
- Trends in Hospitalizations for Adults With Congenital Heart Disease in the U.S.
- (2009) Alexander R. Opotowsky et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Mutations of NPHP2 and NPHP3 in infantile nephronophthisis
- (2009) Kálmán Tory et al. KIDNEY INTERNATIONAL
- Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
- (2009) J Elia et al. MOLECULAR PSYCHIATRY
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
- (2009) Joseph T. Glessner et al. NATURE
- De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
- (2009) Steven C Greenway et al. NATURE GENETICS
- Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies
- (2009) Bin Zhang et al. PLoS One
- Chordin Is a Modifier of Tbx1 for the Craniofacial Malformations of 22q11 Deletion Syndrome Phenotypes in Mouse
- (2009) Murim Choi et al. PLoS Genetics
- Congenital heart disease in 111 225 births in Belgium: birth prevalence, treatment and survival in the 21st century
- (2008) Philip Moons et al. ACTA PAEDIATRICA
- Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia
- (2008) Carsten Bergmann et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Extensive Copy-Number Variation of the Human Olfactory Receptor Gene Family
- (2008) Janet M. Young et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Foxn4 directly regulates tbx2b expression and atrioventricular canal formation
- (2008) N. C. Chi et al. GENES & DEVELOPMENT
- NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
- (2008) K. L. McBride et al. HUMAN MOLECULAR GENETICS
- High Quality Catalog of Proteotypic Peptides from Human Heart
- (2008) Kelli G. Kline et al. JOURNAL OF PROTEOME RESEARCH
- High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution
- (2008) Yehudit Hasin et al. PLoS Genetics
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started