Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
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Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart diseaseGenetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular CareArray comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysisCongenital heart disease: emerging themes linking genetics and developmentOf mice and men: molecular genetics of congenital heart diseaseIncreased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence dataChromosome microarray analysis in the investigation of children with congenital heart disease.The importance of copy number variation in congenital heart diseaseEmbryonic ionizing radiation exposure results in expression alterations of genes associated with cardiovascular and neurological development, function, and disease and modified cardiovascular function in zebrafishADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing StudyChromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yieldCardiomyopathy and Worsened Ischemic Heart Failure in SM22-α Cre-Mediated Neuropilin-1 Null Mice: Dysregulation of PGC1α and Mitochondrial Homeostasis.MESP1 Mutations in Patients with Congenital Heart Defects.Karyotypic and molecular genetic changes associated with fetal cardiovascular abnormalities: results of a retrospective 4-year ultrasonic diagnosis studyThe Congenital Heart Disease Genetic Network Study: rationale, design, and early results.De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.Transcription factor pathways and congenital heart disease.Extracellular metalloproteinases in neural crest development and craniofacial morphogenesis.Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Clinical aspects of prenatally detected congenital heart malformations and the yield of chromosomal microarray analysis.Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease.Genetic testing practices in infants with congenital heart disease.Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.Elevated serum levels of ghrelin and TNF-α in patients with cyanotic and acyanotic congenital heart disease.Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
P2860
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P2860
Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Microdeletions and microduplic ...... multiple congenital anomalies.
@ast
Microdeletions and microduplic ...... multiple congenital anomalies.
@en
type
label
Microdeletions and microduplic ...... multiple congenital anomalies.
@ast
Microdeletions and microduplic ...... multiple congenital anomalies.
@en
prefLabel
Microdeletions and microduplic ...... multiple congenital anomalies.
@ast
Microdeletions and microduplic ...... multiple congenital anomalies.
@en
P2093
P2860
P1476
Microdeletions and microduplic ...... multiple congenital anomalies
@en
P2093
Elizabeth Goldmuntz
Hakon Hakonarson
Jaclyn A Biegel
Peter S White
Prasuna Paluru
Tamim H Shaikh
Xiaowu Gai
P2860
P304
P356
10.1111/J.1747-0803.2011.00582.X
P577
2011-10-20T00:00:00Z