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Cardiovascular findings in duplication 17p11.2 syndrome.
Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L. Jefferies JL, et al. Among authors: martinez hr. Genet Med. 2012 Jan;14(1):90-4. doi: 10.1038/gim.0b013e3182329723. Epub 2011 Oct 17. Genet Med. 2012. PMID: 22237436 Free PMC article.
Left ventricular noncompaction in Sotos syndrome.
Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL. Martinez HR, et al. Am J Med Genet A. 2011 May;155A(5):1115-8. doi: 10.1002/ajmg.a.33838. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484993
Atenolol versus losartan in children and young adults with Marfan's syndrome.
Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L; Pediatric Heart Network Investigators. Lacro RV, et al. N Engl J Med. 2014 Nov 27;371(22):2061-71. doi: 10.1056/NEJMoa1404731. Epub 2014 Nov 18. N Engl J Med. 2014. PMID: 25405392 Free PMC article. Clinical Trial.
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.
Bainbridge MN, Davis EE, Choi WY, Dickson A, Martinez HR, Wang M, Dinh H, Muzny DM, Pignatelli R, Katsanis N, Boerwinkle E, Gibbs RA, Jefferies JL. Bainbridge MN, et al. Among authors: martinez hr. Circ Cardiovasc Genet. 2015 Aug;8(4):544-52. doi: 10.1161/CIRCGENETICS.115.001026. Epub 2015 May 29. Circ Cardiovasc Genet. 2015. PMID: 26025024 Free PMC article.
119 results