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The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification

Gene, 2015-01, Vol.555 (1), p.23-32

2015

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Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia

Journal of biomedical research, 2019, Vol.33 (2), p.73-81

2019

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Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3330

2023

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Journal of lipid research, 2011-11, Vol.52 (11), p.1885-1926

2011

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Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis[S]

Journal of lipid research, 2013-12, Vol.54 (12), p.3481-3490

2013

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Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

Journal of the American Heart Association, 2022-04, Vol.11 (7), p.e023668-e023668

2022

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Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family

Genes, 2023-06, Vol.14 (6), p.1275

2023

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Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

Journal of the American Heart Association, 2023-05, Vol.12 (10), p.e029223-e029223

2023

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Molecular diagnosis of hypobetalipoproteinemia: An ENID review

Atherosclerosis, 2007-12, Vol.195 (2), p.e19-e27

2007

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The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group

Frontiers in genetics, 2022-06, Vol.13, p.912510-912510

2022

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Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein

Science (American Association for the Advancement of Science), 2001-05, Vol.292 (5520), p.1394-1398

2001

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APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency

Current opinion in lipidology, 2006-04, Vol.17 (2), p.122-127

2006

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Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia

Arteriosclerosis, thrombosis, and vascular biology, 2005-02, Vol.25 (2), p.411

2005

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Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride

Journal of clinical lipidology, 2017-11, Vol.11 (6), p.1329-1337.e3

2017

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In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia

Journal of clinical lipidology, 2019-11, Vol.13 (6), p.960-969

2019

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Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene

Journal of clinical lipidology, 2016-07, Vol.10 (4), p.915-921.e4

2016

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A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene

Journal of clinical lipidology, 2015-03, Vol.9 (2), p.265-270

2015

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The Type of LDLR Gene Mutation Predicts Cardiovascular Risk in Children with Familial Hypercholesterolemia

The Journal of pediatrics, 2009-08, Vol.155 (2), p.199-204.e2

2009

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Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis

Journal of clinical lipidology, 2016, Vol.10 (1), p.92-100.e1

2016

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Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

Atherosclerosis, 2006-06, Vol.186 (2), p.433-440

2006

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Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison

Atherosclerosis, 2006-10, Vol.188 (2), p.398-405

2006

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Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations

Journal of clinical lipidology, 2016-07, Vol.10 (4), p.944-952.e1

2016

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Transcriptional Regulation of Human CYP27 Integrates Retinoid, Peroxisome Proliferator-Activated Receptor, and Liver X Receptor Signaling in Macrophages

Molecular and Cellular Biology, 2004-09, Vol.24 (18), p.8154-8166

2004

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Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.381-387

2015

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Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

The Lancet (British edition), 2002-03, Vol.359 (9309), p.841-847

2002

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The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification

Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia

Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis[S]

Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family

Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

Molecular diagnosis of hypobetalipoproteinemia: An ENID review

The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group

Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency

Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride

In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia

Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene

The Type of LDLR Gene Mutation Predicts Cardiovascular Risk in Children with Familial Hypercholesterolemia

Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison

Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations

Transcriptional Regulation of Human CYP27 Integrates Retinoid, Peroxisome Proliferator-Activated Receptor, and Liver X Receptor Signaling in Macrophages

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

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