Results 161 to 170 of about 296,757 (381)

Sudden cardiac death in inherited cardiomyopathy [PDF]

, 2017
Cardiomyopathy is an important cause of sudden cardiac death particularly in adolescents and young adults. The risk of sudden cardiac death varies between individual cardiomyopathies and is dependent on the severity of disease, age and gender.
Collis, R, Elliott, PM
core   +1 more source

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

Molecular genetics of cardiomyopathy: changing times, shifting paradigms [PDF]

, 2003
The original publication is available at http://www.cvja.co.za/Includes bibliographyCongestive heart failure is a major problem in developed and developing countries alike.
Brink, Paul A., Corfield, Valerie A., Mayosi, Bongani M., Moolman-Smook, Johanna C.   +3 more
core  

Association of Tenofovir Use With Risk of Incident Heart Failure in HIV-Infected Patients. [PDF]

, 2017
BackgroundThe antiretroviral medication, tenofovir disoproxil fumarate (TDF), is used by most human immunodeficiency virus-infected persons in the United States despite higher risks of chronic kidney disease.
Chen, Ruijun, Estrella, Michelle M, Grunfeld, Carl, Horberg, Michael A, Hsue, Priscilla Y, Jotwani, Vasantha, Scherzer, Rebecca, Shlipak, Michael G   +7 more
core   +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

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

Beta-adrenergic Blockade in Hypertrophic Obstructive Cardiomyopathy [PDF]

, 1966
G Cherian, Ian Brockington, Pravin M. Shah, C M Oakley, J. F. Goodwin   +4 more
openalex   +1 more source