Associated Papers
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB et al.
Gene, 2023
[Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents].
Sánchez A et al.
Revista Medica De Chile, 2021
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
Fenotipo de hipercolesterolemia familiar definitivo con estudio genético negativo en Argentina.
Corral P et al.
Archivos De Cardiologia De Mexico, 2020
Phenotype of definite familial hypercholesterolemia with negative genetic study in Argentina.
Corral P et al.
Archivos De Cardiologia De Mexico, 2020
Unusual genetic variants associated with hypercholesterolemia in Argentina.
Corral P et al.
Atherosclerosis, 2018
Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.
Molfetta GA et al.
Genetics and Molecular Research : Gmr, 2017
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE et al.
Science (new York, N.y.), 2016
The panorama of familial hypercholesterolemia in Latin America: a systematic review.
Mehta R et al.
Journal of Lipid Research, 2016
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
Jannes CE et al.
Atherosclerosis, 2015
Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
Mollaki V et al.
Atherosclerosis, 2014
Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.
Mollaki V et al.
Annals of Human Genetics, 2013
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L et al.
Atherosclerosis, 2012
Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.
Mollaki V et al.
Journal of Clinical Lipidology, 0