Chiara Scrimali

Via Del Vespro 129
Palermo, 90127, Italy

Last Updated: 09/26/2026

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Found 12 publications

Echocardiographic Calcium Score of Aortic Valve Correlates with Coronary Artery Calcium Score in Heterozygous Familial Hypercholesterolemia.

Echocardiographic Calcium Score of Aortic Valve Correlates with Coronary Artery Calcium Score in Heterozygous Familial Hypercholesterolemia.

Journal: Life (Basel, Switzerland)

Published: February 25, 2025

Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database.

Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database.

Journal: Journal of inherited metabolic disease

Published: January 11, 2025

Fibroblast growth factor 5: a novel biomarker for familial hypercholesterolaemia.

Fibroblast growth factor 5: a novel biomarker for familial hypercholesterolaemia.

Journal: European heart journal

Published: May 15, 2024

Do genetically determined very high and very low LDL levels contribute to Lp(a) plasma concentration?

Do genetically determined very high and very low LDL levels contribute to Lp(a) plasma concentration?

Journal: Nutrition, metabolism, and cardiovascular diseases : NMCD

Published: March 07, 2024

TGF-β/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer.

TGF-β/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer.

Journal: Genes

Published: May 19, 2022

Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.

Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.

Journal: Journal of clinical lipidology

Published: January 11, 2022

Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients.

Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients.

Journal: Atherosclerosis

Published: November 30, 2021

rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography.

rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography.

Journal: Nutrition, metabolism, and cardiovascular diseases : NMCD

Published: August 17, 2020

Automated untargeted stable isotope assisted lipidomics of liver cells on high glucose shows alteration of sphingolipid kinetics.

Automated untargeted stable isotope assisted lipidomics of liver cells on high glucose shows alteration of sphingolipid kinetics.

Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids

Published: May 31, 2019

PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study.

PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study.

Journal: Atherosclerosis

Published: January 22, 2019

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.

Journal: Journal of clinical lipidology

Published: August 10, 2017

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

Journal: Journal of clinical lipidology

Published: June 02, 2016

Showing 1-12 of 12

Last Updated: 09/26/2026