Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel

Current Approach to the Diagnosis and Treatment of Heterozygote and Homozygous FH Children and Adolescents

(2021) Hofit Cohen et al.   Current Atherosclerosis Reports

Advances in familial hypercholesterolaemia in children

(2021) M Doortje Reijman et al.   Lancet Child & Adolescent Health

Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications

(2021) Xiao-dan Xia et al.   Frontiers in Cardiovascular Medicine

Molecular insights into the coding region mutations of low‐density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia

(2020) Noor A. Shaik et al.   JOURNAL OF GENE MEDICINE

Delisting STAP1

(2020) Robert A. Hegele et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Hyperlipidemia

(2020) Jeremy Stewart et al.   PEDIATRICS IN REVIEW

Evaluation of the role of STAP1 in Familial Hypercholesterolemia

(2019) Magdalena Danyel et al.   Scientific Reports

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis

(2019) Karen H.Y. Wong et al.   Molecular Genetics & Genomic Medicine

Cardiovascular disease (CVD) and associated risk factors among older adults in six low-and middle-income countries: results from SAGE Wave 1

(2018) Ye Ruan et al.   BMC PUBLIC HEALTH

Outcome of clinical management in relatives of sudden cardiac death victims

(2018) Katrine M. Müllertz et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants

(2018) Asier Benito-Vicente et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review

(2018) Urh Groselj et al.   ATHEROSCLEROSIS

Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia

(2017) Anne P. Beigneux et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Architecture of Familial Hypercholesterolaemia

(2017) Mahtab Sharifi et al.   Current Cardiology Reports

The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation

(2016) Delia Susan-Resiga et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

(2016) Mahtab Sharifi et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

(2015) Albert Wiegman et al.   EUROPEAN HEART JOURNAL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Familial hypercholesterolemia mutations in the Middle Eastern and North African region: A need for a national registry

(2015) Mary Aderayo Bamimore et al.   Journal of Clinical Lipidology

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

(2015) J. A. Fernández-Higuero et al.   Scientific Reports

PCSK9 and LDLR degradation

(2014) Thomas A. Lagace   CURRENT OPINION IN LIPIDOLOGY

Mutations inLPL,APOC2,APOA5,GPIHBP1andLMF1in patients with severe hypertriglyceridaemia

(2012) R. P. Surendran et al.   JOURNAL OF INTERNAL MEDICINE

Pediatric aspects of Familial Hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

(2011) Stephen R. Daniels et al.   Journal of Clinical Lipidology

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in theLDLR gene

(2010) Jolanta Kubalska et al.   JOURNAL OF APPLIED GENETICS

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLR mutations

(2010) M. Chmara et al.   JOURNAL OF APPLIED GENETICS

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy

(2009) Maria Romano et al.   ATHEROSCLEROSIS

Genetic screening of the LPL gene in hypertriglyceridaemic patients

(2008) William T. Wright et al.   ATHEROSCLEROSIS