Results 21 to 30 of about 52,688 (314)

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. [PDF]

, 2018
Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X and analyze genotypes with four quantitative ...
Abecasis, Goncalo, Alver, Maris, Bloom, Jonathan M, Chaffin, Mark, Correa, Adolfo, Cupples, L Adrienne, Engreitz, Jesse M, Ernst, Jason, Esko, Tonu, Ganna, Andrea, Johnson, W Craig, Kathiresan, Sekar, Kellis, Manolis, Khera, Amit V, Lander, Eric S, Manichaikul, Ani, Mitchell, Braxton, Montasser, May, Natarajan, Pradeep, Neale, Benjamin M, NHLBI TOPMed Lipids Working Group, O'Connell, Jeffrey R, Peloso, Gina M, Perry, James A, Poterba, Timothy, Rich, Stephen S, Ripatti, Samuli, Rotter, Jerome I, Ruotsalainen, Sanni E, Salomaa, Veikko, Seed, Cotton, Surakka, Ida L, Vasan, Ramachandran S, Willer, Cristen J, Wilson, James G, Zekavat, Seyedeh Maryam, Zhou, Wei   +36 more
core   +2 more sources

Real‐World Effectiveness of PCSK9 Inhibitors in Reducing LDL‐C in Patients With Familial Hypercholesterolemia in Italy: A Retrospective Cohort Study Based on the AIFA Monitoring Registries

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Information on the real‐world use of proprotein convertase subtilisin kexin 9 inhibitors (PCKS9is) in familial hypercholesterolemia are limited.
Marcello Arca, Simone Celant, Pier Paolo Olimpieri, Antonietta Colatrella, Luca Tomassini, Laura D'Erasmo, Maurizio Averna, Alberto Zambon, Alberico Luigi Catapano, Pierluigi Russo   +9 more
doaj   +1 more source

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) [PDF]

, 2017
Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease ...
Angelico, F., Arca, M, Averna, M., Bertolini, S, Calandra, S, Casula, M, Catapano, Al, Cefalù, Ab, Del Ben, M., Lipigen, Group, Maranghi, M, Montali, A., Noto, D, Tarugi, P.   +13 more
core   +1 more source

Diagnostic Characteristics of Familial Hypercholesterolemia in Children

Педиатрическая фармакология, 2020
Familial hypercholesterolemia is autosomal dominant hereditary disorder developing in in humans since birth and it is characterized by low-density lipoproteins concentration increase in blood.
Dinara I. Sadykova, Liliia F. Galimova, Eugenia S. Slastnikova   +2 more
doaj   +1 more source

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. [PDF]

, 2019
BackgroundHomozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low-density lipoprotein (LDL) cholesterol in affected individuals.
Balamir, Melek, Chu, Catherine, Gonzaludo, Nina, Grenville, Zoe, Kane, John P, Kwok, Pui-Yan, Lao, Richard, Levy-Sakin, Michal, Ma, Walfred, Mak, Angel CY, Malloy, Mary J, Poon, Annie, Pullinger, Clive R, Vaka, Dedeepya, Wong, Karen HY, Wong, Nicolas   +15 more
core   +1 more source

The economic impact of hypercholesterolemia and mixed dyslipidemia: A systematic review of cost of illness studies.

PLoS ONE, 2021
Hypercholesterolemia is a clinically relevant condition with an ascertained role in atherogenesis. In particular, its presence directly correlates to the risk of atherosclerotic cardiovascular disease (ASCVD).
Pietro Ferrara, Danilo Di Laura, Paolo A Cortesi, Lorenzo G Mantovani   +3 more
doaj   +1 more source

The Effect of LRP-1 Gene and Mir-205 on Cardiovascular Disease in Iraqi Patients with Familial Hypercholesterolemia [PDF]

Journal of Applied Sciences and Nanotechnology, 2021
Familial hypercholesterolemia (FH) is a genetic disorder characterized by autosomal inheritance in genes related to LDL-C metabolism, with the major clinical features of hyper-LDL-cholesterolemia and premature coronary artery disease. (LRP-1) is a member
Zinah Ghareeb, Hiba AlKhafaji, Mohanad Al-Saedi   +2 more
doaj   +1 more source

Molecular genetic diagnosis of a heterozygous form of familial hypercholesterolemia at a young age: a clinical case

Атеросклероз, 2022
Patients with familial hypercholesterolemia should be monitored throughout life, starting at an early age, since high levels of low-density lipoprotein cholesterol from birth and its cumulative effect play a significant role in the early development of ...
Olga V. Timoshchenko, Dinara E. Ivanoshchuk, Sergey E. Semaev, Lyudmila D. Latyntseva, Elena V. Shakhtshneider   +4 more
doaj   +1 more source

Systematic review and network meta-analysis on the efficacy of evolocumab and other therapies for the management of lipid levels in hyperlipidemia [PDF]

, 2017
Background: The proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors evolocumab and alirocumab substantially reduce low‐density lipoprotein cholesterol (LDL‐C) when added to statin therapy in patients who need additional LDL‐C reduction ...
Bray, Sarah, Bridges, Ian, Cheng, Lung-I, Dent, Ricardo, Deshpande, Sohan, Forbes, Carol A., Gandra, Shravanthi R., Kleijnen, Jos, Ross, Janine, Sattar, Naveed, Stroes, Erik S.G., Toth, Peter P., Worth, Gavin M., Worthy, Gillian   +13 more
core   +1 more source

Genomics knowledge and attitudes among European public health professionals. Results of a cross-sectional survey [PDF]

, 2020
Background The international public health (PH) community is debating the opportunity to incorporate genomic technologies into PH practice. A survey was conducted to assess attitudes of the European Public Health Association (EUPHA) members towards their
Baccolini, V., Barnhoorn, F., D'Andrea, E., de Vito, C., Marco, M. D., Marzuillo, C., Paget, D. Z., Pitini, E., Rosso, A., Unim, B., Villari, P.   +10 more
core   +2 more sources