Maslen CL - Search Results

1

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.

Trevino CE, Holleman AM, Corbitt H, Maslen CL, Rosser TC, Cutler DJ, Johnston HR, Rambo-Martin BL, Oberoi J, Dooley KJ, Capone GT, Reeves RH, Cordell HJ, Keavney BD, Agopian AJ, Goldmuntz E, Gruber PJ, O'Brien JE Jr, Bittel DC, Wadhwa L, Cua CL, Moskowitz IP, Mulle JG, Epstein MP, Sherman SL, Zwick ME. Trevino CE, et al. Among authors: maslen cl. Sci Rep. 2020 Oct 22;10(1):18051. doi: 10.1038/s41598-020-74650-4. Sci Rep. 2020. PMID: 33093519 Free PMC article.

2

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL. Robinson SW, et al. Among authors: maslen cl. Am J Hum Genet. 2003 Apr;72(4):1047-52. doi: 10.1086/374319. Epub 2003 Mar 11. Am J Hum Genet. 2003. PMID: 12632326 Free PMC article.

3

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. 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.

4

GATA4 sequence variants in patients with congenital heart disease.

Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E. Tomita-Mitchell A, et al. Among authors: maslen cl. J Med Genet. 2007 Dec;44(12):779-83. doi: 10.1136/jmg.2007.052183. J Med Genet. 2007. PMID: 18055909 Free PMC article.

5

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.

Joziasse IC, Smith KA, Chocron S, van Dinther M, Guryev V, van de Smagt JJ, Cuppen E, Ten Dijke P, Mulder BJ, Maslen CL, Reshey B, Doevendans PA, Bakkers J. Joziasse IC, et al. Among authors: maslen cl. Eur J Hum Genet. 2011 Apr;19(4):389-93. doi: 10.1038/ejhg.2010.224. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248739 Free PMC article.

6

Development and validation of the Arizona Cognitive Test Battery for Down syndrome.

Edgin JO, Mason GM, Allman MJ, Capone GT, Deleon I, Maslen C, Reeves RH, Sherman SL, Nadel L. Edgin JO, et al. J Neurodev Disord. 2010 Sep 1;2(3):149-164. doi: 10.1007/s11689-010-9054-3. J Neurodev Disord. 2010. PMID: 21274406 Free PMC article.

7

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.

Li H, Cherry S, Klinedinst D, DeLeon V, Redig J, Reshey B, Chin MT, Sherman SL, Maslen CL, Reeves RH. Li H, et al. Among authors: maslen cl. Circ Cardiovasc Genet. 2012 Jun;5(3):301-8. doi: 10.1161/CIRCGENETICS.111.960872. Epub 2012 Apr 20. Circ Cardiovasc Genet. 2012. PMID: 22523272 Free PMC article.

8

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: maslen cl. 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.

9

Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects.

Redig JK, Fouad GT, Babcock D, Reshey B, Feingold E, Reeves RH, Maslen CL. Redig JK, et al. Among authors: maslen cl. AIMS Genet. 2014;1(1):1-19. doi: 10.3934/genet.2014.1.1#sthash.jksuJTeC.dpuf. AIMS Genet. 2014. PMID: 25328912 Free PMC article.

10

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: maslen cl. 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.

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