Bean LJ - Search Results

1

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL, Reeves RH, Sherman SL, Maslen CL. Ackerman C, et al. Among authors: bean lj. Am J Hum Genet. 2012 Oct 5;91(4):646-59. doi: 10.1016/j.ajhg.2012.08.017. Am J Hum Genet. 2012. PMID: 23040494 Free PMC article.

2

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

Maslen CL, Babcock D, Robinson SW, Bean LJ, Dooley KJ, Willour VL, Sherman SL. Maslen CL, et al. Among authors: bean lj. Am J Med Genet A. 2006 Nov 15;140(22):2501-5. doi: 10.1002/ajmg.a.31494. Am J Med Genet A. 2006. PMID: 17036335 No abstract available.

3

Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.

Ramachandran D, Mulle JG, Locke AE, Bean LJ, Rosser TC, Bose P, Dooley KJ, Cua CL, Capone GT, Reeves RH, Maslen CL, Cutler DJ, Sherman SL, Zwick ME. Ramachandran D, et al. Among authors: bean lj. Genet Med. 2015 Jul;17(7):554-60. doi: 10.1038/gim.2014.144. Epub 2014 Oct 23. Genet Med. 2015. PMID: 25341113 Free PMC article.

4

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. Among authors: bean lj. G3 (Bethesda). 2015 Jul 20;5(10):1961-71. doi: 10.1534/g3.115.019943. G3 (Bethesda). 2015. PMID: 26194203 Free PMC article.

5

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.

6

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.

Locke AE, Dooley KJ, Tinker SW, Cheong SY, Feingold E, Allen EG, Freeman SB, Torfs CP, Cua CL, Epstein MP, Wu MC, Lin X, Capone G, Sherman SL, Bean LJ. Locke AE, et al. Among authors: bean lj. Genet Epidemiol. 2010 Sep;34(6):613-23. doi: 10.1002/gepi.20518. Genet Epidemiol. 2010. PMID: 20718043 Free PMC article.

7

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project.

Bean LJ, Allen EG, Tinker SW, Hollis ND, Locke AE, Druschel C, Hobbs CA, O'Leary L, Romitti PA, Royle MH, Torfs CP, Dooley KJ, Freeman SB, Sherman SL. Bean LJ, et al. Birth Defects Res A Clin Mol Teratol. 2011 Oct;91(10):885-93. doi: 10.1002/bdra.22848. Epub 2011 Aug 24. Birth Defects Res A Clin Mol Teratol. 2011. PMID: 21987466 Free PMC article.

8

Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21.

Oliver TR, Tinker SW, Allen EG, Hollis N, Locke AE, Bean LJ, Chowdhury R, Begum F, Marazita M, Cheung V, Feingold E, Sherman SL. Oliver TR, et al. Among authors: bean lj. Hum Genet. 2012 Jul;131(7):1039-46. doi: 10.1007/s00439-011-1121-7. Epub 2011 Dec 9. Hum Genet. 2012. PMID: 22160426 Free PMC article.

9

Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome.

Kerstann KF, Feingold E, Freeman SB, Bean LJ, Pyatt R, Tinker S, Jewel AH, Capone G, Sherman SL. Kerstann KF, et al. Among authors: bean lj. Genet Epidemiol. 2004 Nov;27(3):240-51. doi: 10.1002/gepi.20019. Genet Epidemiol. 2004. PMID: 15389927

10

Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21.

Middlebrooks CD, Mukhopadhyay N, Tinker SW, Allen EG, Bean LJ, Begum F, Chowdhury R, Cheung V, Doheny K, Adams M, Feingold E, Sherman SL. Middlebrooks CD, et al. Among authors: bean lj. Hum Mol Genet. 2014 Jan 15;23(2):408-17. doi: 10.1093/hmg/ddt433. Epub 2013 Sep 6. Hum Mol Genet. 2014. PMID: 24014426 Free PMC article.

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