V V Michels
Affiliation: Mayo Clinic
- Progression of familial and non-familial dilated cardiomyopathy: long term follow upV V Michels
Department of Medical Genetics, Mayo Clinic Foundation, Rochester, Minnesota 55905, USA
Heart 89:757-61. 2003..It has been suggested that familial disease indicates a worse prognosis, and that this should be considered when planning the timing of heart transplantation...
- Frequency of development of idiopathic dilated cardiomyopathy among relatives of patients with idiopathic dilated cardiomyopathyVirginia V Michels
Department of Medical Genetics, Mayo Foundation, 200 First Street SW, Rochester, MN 55905, USA
Am J Cardiol 91:1389-92. 2003
- A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's familyM J Ackerman
Department of Pediatrics and Adolescent Medicine, Mayo Clinic Foundation, Rochester, Minnesota 55905, USA
Pediatr Res 44:148-53. 1998..These findings show the potential importance of establishing a molecular diagnosis rather than initiating genotype-specific interventions based upon inspection of a patient's ECG...
- Guidelines for buccal smear collection in breast-fed infantsD Babovic-Vuksanovic
Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
Am J Med Genet 84:357-60. 1999..In addition, prior to sample collection, buccal mucosa should be cleaned thoroughly with a cotton swab applicator. The same guidelines are applicable to older nursing infants...
- Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathyT M Olson
Department of Pediatrics, Division of Cardiology and Biochemistry, University of Utah, Salt Lake City, UT 84113, USA
J Mol Cell Cardiol 33:723-32. 2001..Therefore, substitution of different amino acid residues in the same thin filament proteins is associated with the distinct phenotypes of cardiac hypertrophy or congestive heart failure...
- Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiologyS C Menon
Department of Pediatric and Adolescent Medicine, Division of Cardiology, College of Medicine, Mayo Clinic, Rochester, MN 55905, USA
Clin Genet 74:445-54. 2008..Mutation of a sarcomeric protein gene can cause RCM, HCM, and DCM within the same family, underscoring the necessity of comprehensive morphological and physiological cardiac assessment in familial cardiomyopathy screening...
- A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosisT M Olson
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
Hum Mol Genet 4:1677-9. 1995
- Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patientsRegina E Ensenauer
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
Am J Hum Genet 73:1027-40. 2003..Although the present series of patients was ascertained because of some overlapping features with DG/VCF syndromes, the microduplication of 22q11.2 appears to be a new syndrome...
- Sodium channel mutations and susceptibility to heart failure and atrial fibrillationTimothy M Olson
Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
JAMA 293:447-54. 2005..Recently, genetic defects in calcium and potassium regulation have been discovered in patients with DCM, implicating an alternative disease mechanism. The full spectrum of genetic defects in DCM, however, has not been established...
- Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature reviewYing S Zou
Cytogenetics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Med Genet A 140:1696-706. 2006....
- Left ventricular function in the Marfan syndrome without significant valvular regurgitationRitu Chatrath
Division of Pediatric Cardiology, Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Cardiol 91:914-6. 2003
- Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patientsSyed M Jalal
Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
Genet Med 5:28-34. 2003..No subtelomeric abnormalities were detected in our group of 53 MM patients, suggesting a relatively low frequency of occurrence in this patient population...
- Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomaliesLuc M Beauchesne
Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada
J Am Coll Cardiol 45:595-8. 2005..2 microdeletion in adults with selected conotruncal anomalies and to assess the clinician's ability to predict the presence or absence of 22q11.2 microdeletion on the basis of clinical features...
- Delineation of the cryptic 1qter deletion phenotypeJ Lawrence Merritt
Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
Am J Med Genet A 143:599-603. 2007..This further delineates the phenotype and further narrows the chromosomal region responsible for a 1qter microdeletion phenotype...