McDermott DA - Search Results

1

Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome.

He J, McDermott DA, Song Y, Gilbert F, Kligman I, Basson CT. He J, et al. Among authors: mcdermott da. Am J Med Genet A. 2004 Apr 1;126A(1):93-8. doi: 10.1002/ajmg.a.20487. Am J Med Genet A. 2004. PMID: 15039979

2

Genetics of cardiac septation defects and their pre-implantation diagnosis.

McDermott DA, Basson CT, Hatcher CJ. McDermott DA, et al. Methods Mol Med. 2006;126:19-42. doi: 10.1385/1-59745-088-X:19. Methods Mol Med. 2006. PMID: 16930004

3

Using the TBX5 transcription factor to grow and sculpt the heart.

Hatcher CJ, McDermott DA. Hatcher CJ, et al. Among authors: mcdermott da. Am J Med Genet A. 2006 Jul 1;140(13):1414-8. doi: 10.1002/ajmg.a.31256. Am J Med Genet A. 2006. PMID: 16691575 Review.

4

Clinical phenotypes and molecular genetic mechanisms of Carney complex.

Wilkes D, McDermott DA, Basson CT. Wilkes D, et al. Among authors: mcdermott da. Lancet Oncol. 2005 Jul;6(7):501-8. doi: 10.1016/S1470-2045(05)70244-8. Lancet Oncol. 2005. PMID: 15992699 Review.

5

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT. Veugelers M, et al. Among authors: mcdermott da. Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14222-7. doi: 10.1073/pnas.0405535101. Epub 2004 Sep 15. Proc Natl Acad Sci U S A. 2004. PMID: 15371594 Free PMC article.

6

Mutation of perinatal myosin heavy chain associated with a Carney complex variant.

Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. Veugelers M, et al. Among authors: mcdermott da. N Engl J Med. 2004 Jul 29;351(5):460-9. doi: 10.1056/NEJMoa040584. N Engl J Med. 2004. PMID: 15282353

7

Transcription factor cascades in congenital heart malformation.

Hatcher CJ, Diman NY, McDermott DA, Basson CT. Hatcher CJ, et al. Among authors: mcdermott da. Trends Mol Med. 2003 Dec;9(12):512-5. doi: 10.1016/j.molmed.2003.10.004. Trends Mol Med. 2003. PMID: 14659463 Review. No abstract available.

8

Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome.

Vaughan CJ, Hom Y, Okin DA, McDermott DA, Lerman BB, Basson CT. Vaughan CJ, et al. Among authors: mcdermott da. J Cardiovasc Electrophysiol. 2003 Mar;14(3):263-8. doi: 10.1046/j.1540-8167.2003.02394.x. J Cardiovasc Electrophysiol. 2003. PMID: 12716108

9

Update: PGD and Holt-Oram syndrome.

McDermott DA, He J, Song YS, Kligman I, Basson CT. McDermott DA, et al. Am J Med Genet A. 2005 Jul 15;136(2):223. doi: 10.1002/ajmg.a.30804. Am J Med Genet A. 2005. PMID: 15940699 No abstract available.

10

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. McDermott DA, et al. Pediatr Res. 2005 Nov;58(5):981-6. doi: 10.1203/01.PDR.0000182593.95441.64. Epub 2005 Sep 23. Pediatr Res. 2005. PMID: 16183809

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