Detalhe da pesquisa
1.
Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.
Curr Opin Lipidol
; 28(3): 267-272, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28323660
2.
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.
Biochim Biophys Acta
; 1861(11): 1623-1633, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27487388
3.
Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia.
Biochim Biophys Acta
; 1861(4): 371-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26825690
4.
Microsomal Triglyceride Transfer Protein Transfers and Determines Plasma Concentrations of Ceramide and Sphingomyelin but Not Glycosylceramide.
J Biol Chem
; 290(43): 25863-75, 2015 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350457
5.
A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia.
Arterioscler Thromb Vasc Biol
; 33(8): 2021-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23723369
6.
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry.
Eur J Prev Cardiol
; 31(8): 1038-1047, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374534
7.
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis.
J Lipid Res
; 54(12): 3481-90, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24058201
8.
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.
Arterioscler Thromb Vasc Biol
; 32(3): 805-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22247256
9.
Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia.
J Am Heart Assoc
; 12(10): e029223, 2023 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183858
10.
Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group.
Nutrients
; 15(15)2023 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37571405
11.
Altered mRNA splicing in lipoprotein disorders.
Curr Opin Lipidol
; 22(2): 93-9, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21157333
12.
Familial chylomicronemia syndrome. A sixty year follow-up in two siblings and their kindreds. Nosological and clinical considerations.
J Clin Lipidol
; 16(5): 591-595, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945124
13.
HDL-mediated reduction of cholesterol content inhibits the proliferation of prostate cancer cells induced by LDL: Role of ABCA1 and proteasome inhibition.
Biofactors
; 48(3): 707-717, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579277
14.
Lipoprotein(a) and family history for cardiovascular disease in paediatric patients: A new frontier in cardiovascular risk stratification. Data from the LIPIGEN paediatric group.
Atherosclerosis
; 349: 233-239, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562202
15.
Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.
J Clin Lipidol
; 16(4): 530-537, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589500
16.
Guidance for the diagnosis and treatment of hypolipidemia disorders.
J Clin Lipidol
; 16(6): 797-812, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243606
17.
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
J Lipid Res
; 52(11): 1885-926, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21862702
18.
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.
J Biol Chem
; 285(9): 6453-64, 2010 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20032471
19.
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol
; 29(12): 2191-7, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19762784
20.
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation.
Turk J Pediatr
; 52(1): 73-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20402070