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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.
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.
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.
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
23 results