Results 191 to 200 of about 310,703 (307)

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

Indications for Surgery in Obstructive Hypertrophic Cardiomyopathy

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Mark V. Sherrid
doaj   +1 more source

CYP2C19 genotype testing for clopidogrel: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

open access: yesBritish Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 329-347, February 2026.
Clopidogrel, an antiplatelet agent, is currently licensed in the United Kingdom for the prevention and treatment of atherothrombotic events in cerebrovascular disease, coronary artery disease and peripheral arterial disease. Clopidogrel requires metabolic activation by the cytochrome P450 enzyme CYP2C19 to be effective.
Cinzia Dello Russo   +22 more
wiley   +1 more source

Rationale and Design of the Cooperative Program for ImpLementation of Optimal Therapy in Heart Failure

open access: yesClinical Cardiology, Volume 49, Issue 2, February 2026.
The COPILOT‐HF trial is a pragmatic, randomized study designed to determine if a remote, pharmacist‐led navigator‐driven intervention with patient and provider education is more effective than patient and provider education alone at improving the implementation of guideline‐directed medical therapy for patients across the full spectrum of heart failure.
Alexander J. Blood   +16 more
wiley   +1 more source

[Hypertrophic cardiomyopathy. Arrhythmia in hypertrophic cardiomyopathy].

open access: yesArchivos de cardiologia de Mexico, 2003
Hypertrophic cardiomyopathy is a relatively common genetic disorder with heterogeneity in mutations, forms of presentation, prognosis and treatment strategies. Hypertrophic cardiomyopathy is recognized as the most common cause of sudden cardiac death that occurs in young people, including athletes.
openaire   +1 more source

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