Detalhe da pesquisa
1.
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.
Circ Res;
130(1): 80-95, 2022 01 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34809444
2.
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Arterioscler Thromb Vasc Biol;
43(7): e270-e278, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37128917
3.
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Clin Genet;
101(4): 390-402, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34927718
4.
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.
Int J Mol Sci;
23(10)2022 May 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35628605
5.
Real-World Efficacy of Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitors (PCSK9i) in Heterozygous Familial Hypercholesterolemia Patients Referred for Lipoprotein Apheresis.
Med Sci Monit;
27: e928784, 2021 May 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33958572
6.
Familial hypercholesterolemia: experience from France.
Curr Opin Lipidol;
29(2): 65-71, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29389714
7.
PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk.
Mol Cell Probes;
29(1): 1-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25239117
8.
Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.
Curr Atheroscler Rep;
16(9): 439, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25052769
9.
Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort.
Arch Pediatr;
31(3): 188-194, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38538465
10.
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
Hum Mutat;
34(1): 83-7, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22949395
11.
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Nat Genet;
34(2): 154-6, 2003 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12730697
12.
Effect of causative genetic variants on atherosclerotic cardiovascular disease in heterozygous familial hypercholesterolemia patients.
Front Cardiovasc Med;
10: 1182554, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37539087
13.
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
J Lipid Res;
53(3): 548-555, 2012 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22236406
14.
Prevalence of familial hypercholesterolaemia in patients presenting with premature acute coronary syndrome.
Arch Cardiovasc Dis;
115(2): 87-95, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35123917
15.
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
Metabolites;
12(3)2022 Mar 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35323704
16.
APOE gene variants in primary dyslipidemia.
Atherosclerosis;
328: 11-22, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34058468
17.
Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families.
Metabolites;
11(9)2021 Aug 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34564380
18.
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Hum Mutat;
31(11): E1811-24, 2010 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20809525
19.
[Anti-PCSK9 in coronary artery disease: genetic progress, therapeutic approaches]. / Les anti-PGSK9 dans la maladie coronarienne: progrès génétiques, pites thérapeutiques.
Rev Prat;
65(3): 326-7, 2015 Mar.
Artigo
em Francês
| MEDLINE
| ID: mdl-26016189
20.
A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determination of Contamination.
Biomed Res Int;
2020: 9396318, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33457423