Associated Papers
Resistance to conventional drug therapy and good response to lomitapide allowed the identification of a novel bi-allelic semi-dominant monogenic HoFH: a case report.
Fornengo P et al.
Current Medical Research and Opinion, 2025
Familial hypercholesterolaemia with early-onset coronary artery disease and recurrent in-stent restenosis associated with the LDLR gene c.428G>A mutation: a case report.
Zhang C et al.
Frontiers in Cardiovascular Medicine, 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
38506081 (PubMed )
Supplement: hcg-17-e004457-s001.docx
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
Pirillo A et al.
Atherosclerosis. Supplements, 2017
The genetic spectrum of familial hypercholesterolemia in Pakistan.
Ahmed W et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.
Ahmed W et al.
Molecular Biology Reports, 2012
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
Guardamagna O et al.
The Journal of Pediatrics, 2009
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