Associated Papers
Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.
Abraham N et al.
Scientific Reports, 2026
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
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Marmontel O et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia.
Zhao PJ et al.
Cjc Open, 2019
32159113 (PubMed )
Supplement: mmc1.pdf
The genetics of retinopathy of prematurity: a model for neovascular retinal disease.
Swan R et al.
Ophthalmology. Retina, 2018
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.
Bourbon M et al.
Atherosclerosis, 2017
Molecular characterization of familial hypercholesterolemia in Spain.
Palacios L et al.
Atherosclerosis, 2012
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
Chmara M et al.
Journal of Applied Genetics, 2010
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
Taylor A et al.
Clinical Genetics, 2007
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
Brusgaard K et al.
Clinical Genetics, 2006
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
García-García AB et al.
Human Mutation, 2001
Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.
Ullah A et al.
Genetics and Molecular Biology, 0
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