Atrioventricular Septal Defect
Last Posted: Aug 12, 2019
- Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.
Rambo-Martin Benjamin L, et al. G3 (Bethesda, Md.) 2018 0 (1) 105-111
- De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
Priest James R, et al. PLoS genetics 2016 4 (4) e1005963
- Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.
Zhang Juan, et al. BMJ open 2015 0 (12) e009352
- Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.
Yoshida Akiko, et al. Journal of human genetics 2015 10
- A novel mutation of GATA4 (K300T) associated with familial atrial septal defect.
Chen Jia, et al. Gene 2015 9
- Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.
Ramachandran Dhanya, et al. G3 (Bethesda, Md.) 2015 7
- Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
D'Alessandro Lisa C A, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 5
- Genetic abnormalities in FOXP1 are associated with congenital heart defects.
Chang Sheng-Wei, et al. Human mutation 2013 9 (9) 1226-30
- Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.
Ghosh Priyanka, et al. American journal of medical genetics. Part A 2012 11 (11) 2843-8
- Human Gene Copy Number Spectra Analysis in Congenital Heart Malformations.
Tomita-Mitchell A, et al. Physiological genomics 2012 2
- A genetic contribution to risk for postoperative junctional ectopic tachycardia in children undergoing surgery for congenital heart disease.
Borgman Kristie Y, et al. Heart rhythm : the official journal of the Heart Rhythm Society 2011 12 (12) 1900-4
- A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.
Kusuma Lingaiah, et al. Genetic testing and molecular biomarkers 0 0 (7-8) 483-7
- Novel CRELD1 gene mutations in patients with atrioventricular septal defect.
Guo Ying, et al. World journal of pediatrics : WJP 2010 11 (4) 348-52
- Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.
Locke Adam E, et al. Genetic epidemiology 2010 9 (6) 613-23
- Identification of GATA6 sequence variants in patients with congenital heart defects.
Maitra Meenakshi, et al. Pediatric research 2010 10 (4) 281-5
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Quick Links to Other Resources
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.