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Quoted phrase not found in phrase index: "Atrioventricular septal defect, susceptibility to, 2"
Page 1
Congenital heart defects in the recurrent 2q13 deletion syndrome.
Digilio MC, Dentici ML, Loddo S, Laino L, Calcagni G, Genovese S, Capolino R, Bottillo I, Calvieri G, Dallapiccola B, Marino B, Novelli A, Versacci P. Digilio MC, et al. Eur J Med Genet. 2022 Jan;65(1):104381. doi: 10.1016/j.ejmg.2021.104381. Epub 2021 Nov 8. Eur J Med Genet. 2022. PMID: 34763108 Review.
Experimental studies in zebrafish suggest that two genes mapping within the 2q13 critical region (FBLN7 and TMEM87B) could confer susceptibility to congenital heart defects in affected individuals. We reviewed the cardiac characteristics in four patients with 2q13 deletion …
Experimental studies in zebrafish suggest that two genes mapping within the 2q13 critical region (FBLN7 and TMEM87B) could confer suscept …
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 …