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Quoted phrase not found in phrase index: "Atrioventricular septal defect, susceptibility to, 2"
Page 1
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.
Ramachandran D, Zeng Z, Locke AE, Mulle JG, Bean LJ, Rosser TC, Dooley KJ, Cua CL, Capone GT, Reeves RH, Maslen CL, Cutler DJ, Feingold E, Sherman SL, Zwick ME. Ramachandran D, et al. G3 (Bethesda). 2015 Jul 20;5(10):1961-71. doi: 10.1534/g3.115.019943. G3 (Bethesda). 2015. PMID: 26194203 Free PMC article.
The goal of this study was to identify the contribution of common genetic variants to Down syndrome-associated atrioventricular septal defect, a severe heart abnormality. Compared with the euploid population, infants with Down syndrome, or trisomy 21, have a …
The goal of this study was to identify the contribution of common genetic variants to Down syndrome-associated atrioventricular se …
A trisomic transmission disequilibrium test.
Xu Z, Kerstann KF, Sherman SL, Chakravarti A, Feingold E. Xu Z, et al. Genet Epidemiol. 2004 Feb;26(2):125-31. doi: 10.1002/gepi.10302. Genet Epidemiol. 2004. PMID: 14748012
Certain congenital disorders that are rare in the general population are quite common in individuals with trisomic conditions. For example, complete atrioventricular septal defect occurs in about 20% of individuals with Down syndrome, an approximately 500-fol …
Certain congenital disorders that are rare in the general population are quite common in individuals with trisomic conditions. For example, …
Human gene copy number spectra analysis in congenital heart malformations.
Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME. Tomita-Mitchell A, et al. Physiol Genomics. 2012 May 1;44(9):518-41. doi: 10.1152/physiolgenomics.00013.2012. Epub 2012 Feb 7. Physiol Genomics. 2012. PMID: 22318994 Free PMC article.
CNVs in subjects with CHD (n = 945), subphenotyped into 40 groups and verified in accordance with the European Paediatric Cardiac Code, were compared with two control groups, a disease-free cohort (n = 2,026) and a population with coronary artery disease (n = …
CNVs in subjects with CHD (n = 945), subphenotyped into 40 groups and verified in accordance with the European Paediatric Cardiac Code, were …
The Natural History of Atrioventricular Valve Regurgitation Throughout Fetal Life in Patients with Atrioventricular Canal Defects.
Davey BT, Rychik J. Davey BT, et al. Pediatr Cardiol. 2016 Jan;37(1):50-4. doi: 10.1007/s00246-015-1237-y. Epub 2015 Aug 4. Pediatr Cardiol. 2016. PMID: 26238793
Overall, 60% had no change, 14% had a decrease, and 26% had an increase in AVVR grade. Two fetuses progressed from Grade 0 or 1 to Grade 2, while one fetus decreased from Grade 2 to Grade 0. Trisomy 21 and heterotaxy syndrome were not risk factors for AVVR progressi …
Overall, 60% had no change, 14% had a decrease, and 26% had an increase in AVVR grade. Two fetuses progressed from Grade 0 or 1 to Grade …
A genetic contribution to risk for postoperative junctional ectopic tachycardia in children undergoing surgery for congenital heart disease.
Borgman KY, Smith AH, Owen JP, Fish FA, Kannankeril PJ. Borgman KY, et al. Heart Rhythm. 2011 Dec;8(12):1900-4. doi: 10.1016/j.hrthm.2011.06.033. Epub 2011 Jul 6. Heart Rhythm. 2011. PMID: 21740877 Free PMC article.
METHODS: DNA samples were collected from children undergoing the Norwood procedure; arterial switch operation; and repairs of Tetralogy of Fallot, balanced atrioventricular septal defect, and ventricular septal defect at a single center. ...CONCLUSION: The co …
METHODS: DNA samples were collected from children undergoing the Norwood procedure; arterial switch operation; and repairs of Tetralogy of F …
Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.
Rambo-Martin BL, Mulle JG, Cutler DJ, Bean LJH, Rosser TC, Dooley KJ, Cua C, Capone G, Maslen CL, Reeves RH, Sherman SL, Zwick ME. Rambo-Martin BL, et al. G3 (Bethesda). 2018 Jan 4;8(1):105-111. doi: 10.1534/g3.117.300366. G3 (Bethesda). 2018. PMID: 29141989 Free PMC article.
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2000 times higher than in the euploid population. ...In this study, we tested two hypotheses: (1) individuals with DS carrying chromosome 21 copy n …
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2000 ti …