Results 161 to 170 of about 607,470 (403)

THE ELECTROCARDIOGRAM IN CARDIOMYOPATHY [PDF]

, 1963
Robert M. Hollister, J. F. Goodwin
openalex   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Is Hypertrophic Cardiomyopathy Always a Familial and Inherited Disease?

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Jiri Bonaventura, Ethan J. Rowin, Martin S. Maron, Barry J. Maron   +3 more
doaj   +1 more source

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Genetics in Medicine, 2018
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for
M. Kelly, C. Caleshu, A. Morales, J. Buchan, Zena T. Wolf, S. Harrison, S. Cook, Mitchell W Dillon, John Garcia, Eden V. Haverfield, J. Jongbloed, D. Macaya, A. Manrai, Kate M. Orland, G. Richard, Katherine G Spoonamore, Matthew Thomas, K. Thomson, L. Vincent, R. Walsh, H. Watkins, N. Whiffin, J. Ingles, J. P. van Tintelen, C. Semsarian, J. Ware, R. Hershberger, B. Funke   +27 more
semanticscholar   +1 more source

Cardiomyopathies. Ciba Foundation Symposium. [PDF]

, 1965

openalex   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Future Role of New Negative Inotropic Agents in the Era of Established Surgical Myectomy for Symptomatic Obstructive Hypertrophic Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Barry J. Maron, Martin S. Maron, Mark V. Sherrid, Ethan J. Rowin   +3 more
doaj   +1 more source

Management of Myocarditis-Related Cardiomyopathy in Adults.

Circulation Research, 2019
Myocarditis is generally a mild and self-limited consequence of systemic infection of cardiotropic viruses. However, patients can develop a temporary or permanent impairment of cardiac function including acute cardiomyopathy with hemodynamic compromise ...
C. Tschöpe, L. Cooper, G. Torre-Amione, S. Van Linthout   +3 more
semanticscholar   +1 more source

Cardiomyopathy, Temporal Lobe Epilepsy and Pregnancy [PDF]

, 1963
Leo Gilchrist
openalex   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source