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Features of alagille syndrome in 92 patients: Frequency and relation to prognosis
We have studied 92 patients with Alagille syndrome (AGS) to determine the frequency of clinical manifestations and to correlate the clinical findings with outcome. Liver biopsy specimens showedExpand
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Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in
The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussedExpand
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De novo mutations in histone modifying genes in congenital heart disease
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novoExpand
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NKX2.5 mutations in patients with congenital heart disease.
OBJECTIVES The purpose of this study was to estimate the frequency of NKX2.5 mutations in specific cardiovascular anomalies and investigate genotype-phenotype correlations in individuals with NKX2.5Expand
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NKX2.5 Mutations in Patients With Tetralogy of Fallot
Background—Recent reports have implicated mutations in the transcription factor NKX2.5 as a cause of tetralogy of Fallot (TOF). To estimate the frequency of NKX2.5 mutations in TOF patients and toExpand
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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly ofExpand
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Frequency of 22q11 deletions in patients with conotruncal defects.
OBJECTIVES This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal defects and to evaluate the deletionExpand
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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Putting both heart and brain at risk For reasons that are unclear, newborns with congenital heart disease (CHD) have a high risk of neurodevelopmental disabilities. Homsy et al. performed exomeExpand
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Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
Atrioventricular septal defects (AVSD) are common cardiovascular malformations, occurring in 3.5/10,000 births. Although frequently associated with trisomy 21, autosomal dominant AVSD has also beenExpand
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GATA4 sequence variants in patients with congenital heart disease
Background: Recent reports have identified mutations in the transcription factor GATA4 in familial cases of cardiac septal defects. The prevalence of GATA4 mutations in the population of patientsExpand
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