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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
Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.
Anderson JH, Tester DJ, Will ML, Ackerman MJ. Anderson JH, et al. Among authors: will ml. Circ Cardiovasc Genet. 2016 Jun;9(3):259-65. doi: 10.1161/CIRCGENETICS.115.001370. Epub 2016 Apr 25. Circ Cardiovasc Genet. 2016. PMID: 27114410
Genotype-phenotype Correlations of Hypertrophic Cardiomyopathy When Diagnosed in Children, Adolescents, and Young Adults.
Loar RW, Bos JM, Will ML, Ommen SR, Ackerman MJ. Loar RW, et al. Among authors: will ml. Congenit Heart Dis. 2015 Nov-Dec;10(6):529-36. doi: 10.1111/chd.12280. Epub 2015 Jun 10. Congenit Heart Dis. 2015. PMID: 26061417
Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.
Altmann HM, Tester DJ, Will ML, Middha S, Evans JM, Eckloff BW, Ackerman MJ. Altmann HM, et al. Among authors: will ml. Circulation. 2015 Jun 9;131(23):2051-60. doi: 10.1161/CIRCULATIONAHA.115.015397. Epub 2015 Apr 28. Circulation. 2015. PMID: 25922419
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
Bos JM, Will ML, Gersh BJ, Kruisselbrink TM, Ommen SR, Ackerman MJ. Bos JM, et al. Among authors: will ml. Mayo Clin Proc. 2014 Jun;89(6):727-37. doi: 10.1016/j.mayocp.2014.01.025. Epub 2014 May 1. Mayo Clin Proc. 2014. PMID: 24793961 Free PMC article.
Repeat long QT syndrome genetic testing of phenotype-positive cases: prevalence and etiology of detection misses.
Medlock MM, Tester DJ, Will ML, Bos JM, Ackerman MJ. Medlock MM, et al. Among authors: will ml. Heart Rhythm. 2012 Dec;9(12):1977-82. doi: 10.1016/j.hrthm.2012.08.010. Epub 2012 Aug 8. Heart Rhythm. 2012. PMID: 22885918
Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.
Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ. Tester DJ, et al. Among authors: will ml. Mayo Clin Proc. 2012 Jun;87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017. Mayo Clin Proc. 2012. PMID: 22677073 Free PMC article.
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.
Theis JL, Bos JM, Bartleson VB, Will ML, Binder J, Vatta M, Towbin JA, Gersh BJ, Ommen SR, Ackerman MJ. Theis JL, et al. Biochem Biophys Res Commun. 2006 Dec 29;351(4):896-902. doi: 10.1016/j.bbrc.2006.10.119. Epub 2006 Nov 9. Biochem Biophys Res Commun. 2006. PMID: 17097056
Mutation detection in congenital long QT syndrome: cardiac channel gene screen using PCR, dHPLC, and direct DNA sequencing.
Tester DJ, Will ML, Ackerman MJ. Tester DJ, et al. Methods Mol Med. 2006;128:181-207. doi: 10.1385/1-59745-159-2:181. Methods Mol Med. 2006. PMID: 17071997
This chapter will focus on LQTS genetic testing employing the techniques of genomic DNA isolation from peripheral blood, exon-specific PCR amplification, dHPLC hetero-duplex analysis, and direct DNA sequencing....
This chapter will focus on LQTS genetic testing employing the techniques of genomic DNA isolation from peripheral blood, exon-specifi …
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