Search Results - "Michels, VV"

Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation by Olson, Timothy M, Michels, Virginia V, Ballew, Jeffrey D, Reyna, Sandra P, Karst, Margaret L, Herron, Kathleen J, Horton, Steven C, Rodeheffer, Richard J, Anderson, Jeffrey L

“…CONTEXT Dilated cardiomyopathy (DCM), a genetically heterogeneous disorder, causes heart failure and rhythm disturbances. The majority of identified DCM genes…”
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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients by Ensenauer, Regina E., Adeyinka, Adewale, Flynn, Heather C., Michels, Virginia V., Lindor, Noralane M., Dawson, D. Brian, Thorland, Erik C., Lorentz, Cindy Pham, Goldstein, Jennifer L., McDonald, Marie T., Smith, Wendy E., Simon-Fayard, Elba, Alexander, Alan A., Kulharya, Anita S., Ketterling, Rhett P., Clark, Robin D., Jalal, Syed M.

“…Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome…”
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Mutations that Alter the Surface Charge of Alpha-tropomyosin are Associated with Dilated Cardiomyopathy by Olson, Timothy M., Kishimoto, Nina Y., Whitby, Frank G., Michels, Virginia V.

“…Proteins in cardiac myocytes assemble into contractile units known as sarcomeres. Contractile force is generated by interaction between sarcomeric thick and…”
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Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure by Olson, Timothy M., Michels, Virginia V., Thibodeau, Stephen N., Tai, Yin-Shan, Keating, Mark T.

“…To test the hypothesis that actin dysfunction leads to heart failure, patients with hereditary idiopathic dilated cardiomyopathy (IDC) were examined for…”
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Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology by Menon, SC, Michels, VV, Pellikka, PA, Ballew, JD, Karst, ML, Herron, KJ, Nelson, SM, Rodeheffer, RJ, Olson, TM

“…We identified a unique family with autosomal dominant heart disease variably expressed as restrictive cardiomyopathy (RCM), hypertrophic cardiomyopathy (HCM),…”
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Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies by Beauchesne, Luc M., Warnes, Carole A., Connolly, Heidi M., Ammash, Naser M., Grogan, Martha, Jalal, Syed M., Michels, Virginia V.

“…This study was designed to determine the prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies and to…”
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Microsatellite instability in colorectal cancer : Different mutator phenotypes and the principal involvement of hMLH1 by THIBODEAU, S. N, FRENCH, A. J, FARR, G. H, O'CONNELL, M. J, CUNNINGHAM, J. M, TESTER, D, BURGART, L. J, ROCHE, P. C, MCDONNELL, S. K, SCHAID, D. J, VOCKLEY, C. W, MICHELS, V. V

“…Recent studies have demonstrated the presence of microsatellite instability (MSI) in tumors from patients with hereditary nonpolyposis colorectal cancer and in…”
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Familial aggregation of idiopathic dilated cardiomyopathy by Michels, Virginia V., Driscoll, David J., Miller, Fletcher A.

“…The role of genetic factors in the pathogenesis of idiopathic dilated cardiomyopathy (IDC) is unknown. Although IDC usually is sporadic, families with more…”
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Genetic testing: practical, ethical, and counseling considerations by Ensenauer, Regina E, Michels, Virginia V, Reinke, Shanda S

“…Genetic testing is becoming a much more common practice in medicine today. This presents a unique set of challenges for medical professionals in virtually all…”
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Usual interstitial pneumonia complicating dyskeratosis congenita by Utz, James P, Ryu, Jay H, Myers, Jeffrey L, Michels, Virginia V

“…Dyskeratosis congenita (DC) is a rare disorder characterized by skin hyperpigmentation, nail dystrophy, and leukoplakia of mucous membranes. Pulmonary…”
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Neurovascular manifestations of heritable connective tissue disorders : a review by SCHIEVINK, W. I, MICHELS, V. V, PIEPGRAS, D. G

“…Heritable disorders of connective tissue are recognized in a small minority of patients with neurovascular diseases. In this report, we review the…”
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Progression of familial and non-familial dilated cardiomyopathy: long term follow up by Michels, V V, Driscoll, D J, Miller, F A, Olson, T M, Atkinson, E J, Olswold, C L, Schaid, D J

“…Background: It is unknown whether progression of familial idiopathic dilated cardiomyopathy differs from progression in the non-familial form. It has been…”
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Left ventricular function in the Marfan syndrome without significant valvular regurgitation by Chatrath, Ritu, Beauchesne, Luc M., Connolly, Heidi M., Michels, Virginia V., Driscoll, David J.

“…Researchers have found that left ventricular dilation and dysfunction does not occur in most patients with Marfan syndrome in the absence of important valvular…”
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The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy by Michels, Virginia V, Moll, Patricia P, Miller, Fletcher A, Tajik, A. Jamil, Chu, Julia S, Driscoll, David J, Burnett, John C, Rodeheffer, Richard J, Chesebro, James H, Tazelaar, Henry D

“…DILATED cardiomyopathy is a disease of unknown cause characterized by dilation and impaired function of one or both ventricles. 1 The prevalence of dilated…”
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Heritable connective tissue disorders in cervical artery dissections : A prospective study by SCHIEVINK, W. I, WIJDICKS, E. F. M, MICHELS, V. V, VOCKLEY, J, GODFREY, M

“…We prospectively evaluated 15 consecutive patients with spontaneous cervical artery dissections. Three patients (20%) had a heritable connective tissue…”
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von Hippel-Lindau disease by Couch, V, Lindor, N M, Karnes, P S, Michels, V V

“…An autosomal dominant tumor predisposition syndrome, von Hippel-Lindau disease (VHL) is characterized by the presence of benign and malignant tumors. Hallmark…”
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Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients by Jalal, Syed M., Harwood, Aaron R., Sekhon, Gurbax S., Lorentz, Cindy Pham, Ketterling, Rhett P., Babovic-Vuksanovic, Dusica, Meyer, Reid G., Ensenauer, Regina, Anderson, Marvin H., Michels, Virginia V.

“…Purpose: A complete set of subtelomeric fluorescent DNA probes, except the acrocentric p-arms, was developed in 1996, was optimized in 1998, and is…”
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Familial aneurysmal subarachnoid hemorrhage : a community-based study by SCHIEVINK, W. I, SCHAID, D. J, MICHELS, V. V, PIEPGRAS, D. G

“…The familial occurrence of intracranial aneurysms has been well described. However, intracranial aneurysms are not rare and the great majority of reported…”
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Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute Workshop) by Manolio, Teri A., Baughman, Kenneth L., Rodeheffer, Richard, Pearson, Thomas A., Bristow, J.David, Michels, Virginia V., Abelmann, Walter H., Harlan, William R.

“…Idiopathic dilated cardiomyopathy (IDC) is the primary indication for cardiac transplantation, with associated costs of approximately $177 million per year…”
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Intracranial aneurysms in Marfan's syndrome: an autopsy study by Schievink, W I, Parisi, J E, Piepgras, D G, Michels, V V

“…Marfan's syndrome is a heritable connective tissue disorder that has been associated with intracranial aneurysms. However, the prevalence of intracranial…”
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