Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
Molecular genetics of 22q11. 2 deletion syndrome
BE Morrow, DM McDonald‐McGinn… - American journal of …, 2018 - Wiley Online Library
The 22q11. 2 deletion syndrome (22q11. 2DS) is a congenital malformation and
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …
The genetics and epigenetics of 22q11. 2 deletion syndrome
Q Du, MT de la Morena, NSC van Oers - Frontiers in Genetics, 2020 - frontiersin.org
Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …
noted for its varying severity and penetrance among those affected. The clinical problems …
[HTML][HTML] Genetics of congenital heart disease: a narrative review of recent advances and clinical implications
J Yasuhara, V Garg - Translational Pediatrics, 2021 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common human birth defect and remains a
leading cause of mortality in childhood. Although advances in clinical management have …
leading cause of mortality in childhood. Although advances in clinical management have …
Chromosome 22q11. 2 deletion syndrome: A comprehensive review of molecular genetics in the context of multidisciplinary clinical approach
A Szczawińska-Popłonyk, E Schwartzmann… - International Journal of …, 2023 - mdpi.com
The 22q11. 2 deletion syndrome is a multisystemic disorder characterized by a marked
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …
Congenital heart diseases and cardiovascular abnormalities in 22q11. 2 deletion syndrome: from well‐established knowledge to new frontiers
M Unolt, P Versacci, S Anaclerio… - American journal of …, 2018 - Wiley Online Library
Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of
clinical diagnosis of 22q11. 2 deletion syndrome (22q11. 2DS) and still represent the main …
clinical diagnosis of 22q11. 2 deletion syndrome (22q11. 2DS) and still represent the main …
A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11. 2 Deletion Syndrome Brain Behavior Consortium
RE Gur, AS Bassett, DM McDonald-McGinn… - Molecular …, 2017 - nature.com
Rare copy number variants contribute significantly to the risk for schizophrenia, with the
22q11. 2 locus consistently implicated. Individuals with the 22q11. 2 deletion syndrome …
22q11. 2 locus consistently implicated. Individuals with the 22q11. 2 deletion syndrome …
Complete sequence of the 22q11. 2 allele in 1,053 subjects with 22q11. 2 deletion syndrome reveals modifiers of conotruncal heart defects
Y Zhao, A Diacou, HR Johnston, FI Musfee… - The American Journal of …, 2020 - cell.com
The 22q11. 2 deletion syndrome (22q11. 2DS) results from non-allelic homologous
recombination between low-copy repeats termed LCR22. About 60%–70% of individuals …
recombination between low-copy repeats termed LCR22. About 60%–70% of individuals …
The importance of copy number variation in congenital heart disease
G Costain, CK Silversides, AS Bassett - NPJ genomic medicine, 2016 - nature.com
Congenital heart disease (CHD) is the most common class of major malformations in
humans. The historical association with large chromosomal abnormalities foreshadowed the …
humans. The historical association with large chromosomal abnormalities foreshadowed the …
Rare genome-wide copy number variation and expression of schizophrenia in 22q11. 2 deletion syndrome
Objective: Chromosome 22q11. 2 deletion syndrome (22q11. 2DS) is associated with a
more than 20-fold increased risk for developing schizophrenia. The aim of this study was to …
more than 20-fold increased risk for developing schizophrenia. The aim of this study was to …