Atrioventricular Septal Defect
What's New
Last Posted: Oct 06, 2024
- Missense mutations in the CITED2 gene may contribute to congenital heart disease.
Hira Yaqoob, et al. BMC cardiovascular disorders 2024 0 (1) 516 - Contribution of LRP1 in Human Congenital Heart Disease Correlates with Its Roles in the Outflow Tract and Atrioventricular Cushion Development.
Angelo B Arrigo, et al. Genes 2023 0 (4) - Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients.
Hu Huan, et al. Frontiers in genetics 2023 0 1075349 - CRELD1 gene variants and atrioventricular septal defects in Down syndrome.
Asim Ambreen, et al. Gene 2017 0 180-185 - Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.
Qiao F, et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 0 (3) 377-387 - The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
Nisselrooij Amber E L van et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr - 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 - Atrioventricular septal defect
From NCATS Genetic and Rare Diseases Information Center - Dandy-Walker like malformation with atrioventricular septal defect
From NCATS Genetic and Rare Diseases Information Center - 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 - Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
Rauch Ralf, et al. Journal of medical genetics 2010 5 (5) 321-31
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.
- Page last reviewed:Feb 1, 2024
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