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Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.
Vasile VC, Will ML, Ommen SR, Edwards WD, Olson TM, Ackerman MJ. Vasile VC, et al. Mol Genet Metab. 2006 Feb;87(2):169-74. doi: 10.1016/j.ymgme.2005.08.006. Epub 2005 Oct 19. Mol Genet Metab. 2006. PMID: 16236538
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.
Ackerman MJ, Schroeder JJ, Berry R, Schaid DJ, Porter CJ, Michels VV, Thibodeau SN. Ackerman MJ, et al. Pediatr Res. 1998 Aug;44(2):148-53. doi: 10.1203/00006450-199808000-00002. Pediatr Res. 1998. PMID: 9702906
Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.
Ackerman MJ, Tester DJ, Porter CJ. Ackerman MJ, et al. Mayo Clin Proc. 1999 Nov;74(11):1088-94. doi: 10.4065/74.11.1088. Mayo Clin Proc. 1999. PMID: 10560595
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.
Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA. Ackerman MJ, et al. JAMA. 2001 Nov 14;286(18):2264-9. doi: 10.1001/jama.286.18.2264. JAMA. 2001. PMID: 11710892
Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.
Ackerman MJ, VanDriest SL, Ommen SR, Will ML, Nishimura RA, Tajik AJ, Gersh BJ. Ackerman MJ, et al. J Am Coll Cardiol. 2002 Jun 19;39(12):2042-8. doi: 10.1016/s0735-1097(02)01900-9. J Am Coll Cardiol. 2002. PMID: 12084606
Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy.
Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ. Van Driest SL, et al. Circulation. 2002 Dec 10;106(24):3085-90. doi: 10.1161/01.cir.0000042675.59901.14. Circulation. 2002. PMID: 12473556
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