Results 81 to 90 of about 299,280 (207)
LDLR-Gene therapy for familial hypercholesterolaemia: Problems, progress, and perspectives [PDF]
, 2010 Coronary artery diseases (CAD) inflict a heavy economical and social burden on most populations and contribute significantly to their morbidity and mortality rates.
Charles Coutelle +11 more
core +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Aortic valvular disease in elderly subjects with heterozygous familial hypercholesterolemia: impact of lipid-lowering therapy [PDF]
, 2019 Hypercholesterolemia and statins are risk factors for aortic stenosis (AS) and vascular calcification, respectively. Whether heterozygous subjects with familial hypercholesterolemia (HeFH) treated with statins are at risk of AS is unknown.
Fernando Civeira +34 more
core +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 7, Page 431-440, October 2026.ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar +3 more
wiley +1 more source
Animal Models and Experimental Medicine, Volume 9, Issue 10, Page 1964-1981, October 2026.Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou +4 more
wiley +1 more source
International audienceExtreme elevations in lipoprotein(a) [Lp(a)] and familial hypercholesterolemia (FH) are both monogenic diseases associated with an increased risk of atherosclerotic cardiovascular disease (ASCVD).
Brunham, Liam +6 more
core +1 more source
Clinical case of familial hypercholesterolemia in a 14-year-old patient: diagnostic features in pediatric practice [PDF]
, 2023 The purpose of the study was to demonstrate a clinical case of a heterozygous form familial hypercholesterolemia (heFH) of in a 14-year-old girl, and to demonstrate diagnostic features in pediatric practice.Цель исследования – демонстрация клинического ...
Nikonov, A. A. +3 more
core
Clinical Cardiology, Volume 49, Issue 10, October 2026.Genomic medicine in cardiovascular care is progressing from established diagnostic applications toward integrated risk prediction, multiomics, and emerging therapeutic strategies. ABSTRACT Background Genomic cardiology is an emerging field integrating genetic, molecular, imaging, and digital health data to improve cardiovascular disease (CVD ...
Neda Mohsen‐Pour +5 more
wiley +1 more source
Health Science Reports, Volume 9, Issue 10, October 2026.ABSTRACT Objective Familial hypercholesterolemia (FH) is a common inherited disorder characterized by markedly elevated low‐density lipoprotein cholesterol (LDL‐C) levels and an increased risk of premature cardiovascular disease. LDL apheresis is an extracorporeal procedure used to remove atherogenic lipoproteins from the circulation and is an ...
Naser Derakhshani +7 more
wiley +1 more source
Multi‐omics–driven precision medicine
iMeta, Volume 5, Issue 5, October 2026.Multi‐omics‐driven precision medicine (MODPM) provides a multiscale, continuously learnable framework that integrates genomics, epigenomics, transcriptomics, proteomics, metabolomics, microbiome profiles, and clinical data. Powered by artificial intelligence and foundation models, MODPM enables cross‐modal representation learning, contextual modeling ...
Huibo Li +20 more
wiley +1 more source