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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 11 to 20 of 23

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Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.
Van Driest SL, Gakh O, Ommen SR, Isaya G, Ackerman MJ
(2005) Mol Genet Metab 85: 280-5
MeSH Terms: Cardiomyopathy, Hypertrophic, Carrier Proteins, DNA Mutational Analysis, Friedreich Ataxia, Gene Frequency, Heterozygote, Humans, In Vitro Techniques, Iron-Binding Proteins, Mutation, Myocardium, Phenotype, Sarcomeres
Added January 23, 2015
0 Communities
1 Members
0 Resources
13 MeSH Terms
Sarcomeric genotyping in hypertrophic cardiomyopathy.
Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ
(2005) Mayo Clin Proc 80: 463-9
MeSH Terms: Cardiomyopathy, Hypertrophic, Genotype, Humans, Mutation, Sarcomeres
Added January 23, 2015
0 Communities
1 Members
0 Resources
5 MeSH Terms
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ
(2004) J Am Coll Cardiol 44: 1903-10
MeSH Terms: Adolescent, Adult, Aged, Aged, 80 and over, Cardiomyopathy, Hypertrophic, Carrier Proteins, Child, Child, Preschool, Exons, Family Health, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Infant, Newborn, Male, Middle Aged, Minnesota, Mutation, Pedigree, Phenotype, Sarcomeres, Statistics as Topic, Troponin I, Troponin T
Added January 23, 2015
0 Communities
1 Members
0 Resources
26 MeSH Terms
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ
(2004) J Am Coll Cardiol 44: 602-10
MeSH Terms: Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Cardiomyopathy, Hypertrophic, Child, Child, Preschool, Chromatography, High Pressure Liquid, Cohort Studies, DNA Mutational Analysis, Exons, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Humans, Infant, Infant, Newborn, Male, Medical Records, Middle Aged, Mutation, Phenotype, Polymerase Chain Reaction, Polymorphism, Genetic, Risk Assessment, Ventricular Myosins
Added January 23, 2015
0 Communities
1 Members
0 Resources
28 MeSH Terms
From malignant mutations to malignant domains: the continuing search for prognostic significance in the mutant genes causing hypertrophic cardiomyopathy.
Van Driest SL, Maron BJ, Ackerman MJ
(2004) Heart 90: 7-8
MeSH Terms: Cardiomyopathy, Hypertrophic, Humans, Mutation, Missense, Prognosis, Risk Factors
Added January 23, 2015
0 Communities
1 Members
0 Resources
5 MeSH Terms
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ
(2003) Circulation 108: 445-51
MeSH Terms: Actins, Adolescent, Adult, Aged, Cardiomyopathy, Hypertrophic, Cohort Studies, DNA Mutational Analysis, Exons, Female, Genetic Testing, Humans, Male, Middle Aged, Minnesota, Mutation, Missense, Outpatients, Phenotype, Prevalence, Referral and Consultation, Risk Assessment, Tropomyosin, Troponin I, Troponin T
Added January 23, 2015
0 Communities
1 Members
0 Resources
23 MeSH Terms
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
(2002) Circulation 106: 3085-90
MeSH Terms: Adolescent, Adult, Aged, Aged, 80 and over, Cardiomyopathy, Hypertrophic, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Disease Progression, Female, Genotype, Humans, Infant, Infant, Newborn, Male, Middle Aged, Minnesota, Mutation, Myosin Heavy Chains, Predictive Value of Tests, Prevalence, Tropomyosin, Troponin T, Ventricular Myosins
Added January 23, 2015
0 Communities
1 Members
0 Resources
25 MeSH Terms
A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood.
Van Driest SL, Will ML, Atkins DL, Ackerman MJ
(2002) Am J Cardiol 90: 1123-7
MeSH Terms: Adult, Cardiomyopathy, Hypertrophic, Child, Child, Preschool, Death, Sudden, Cardiac, Diagnosis, Differential, Echocardiography, Female, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Pedigree, Point Mutation, Tropomyosin
Added January 23, 2015
0 Communities
1 Members
0 Resources
15 MeSH Terms
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
(2002) J Am Coll Cardiol 39: 2042-8
MeSH Terms: Adolescent, Adult, Aged, Aged, 80 and over, Cardiomyopathy, Hypertrophic, Child, Child, Preschool, DNA Mutational Analysis, Exons, Female, Humans, Infant, Male, Middle Aged, Mutation, Myosin Heavy Chains, Ventricular Myosins
Added January 23, 2015
0 Communities
1 Members
0 Resources
17 MeSH Terms
R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level.
Palmiter KA, Tyska MJ, Haeberle JR, Alpert NR, Fananapazir L, Warshaw DM
(2000) J Muscle Res Cell Motil 21: 609-20
MeSH Terms: Actins, Cardiomyopathy, Hypertrophic, Elasticity, Humans, Mutation, Myocardial Contraction, Myosins
Added May 19, 2014
1 Communities
1 Members
0 Resources
7 MeSH Terms