Detalhe da pesquisa
1.
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
2.
Assessment of three equations to calculate plasma LDL cholesterol concentration in fasting and non-fasting hypertriglyceridemic patients.
Clin Chem Lab Med
; 62(2): 270-279, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37678263
3.
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol
; 41(1): e63-e71, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33207932
4.
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457099
5.
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
6.
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Clin Genet
; 98(6): 589-594, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111339
7.
Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.
Clin Chem Lab Med
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581293
8.
Pseudohyponatremia: interference of hyperglycemia on indirect potentiometry.
Clin Chem Lab Med
; 61(2): e25-e28, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36282968
9.
Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T.
Clin Chem Lab Med
; 61(12): e259-e262, 2023 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37309596
10.
Non-linearity in lipase assays: A multicentric comparison on different analysers.
Clin Biochem
; 114: 63-66, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36773631
11.
A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.
Transl Res
; 255: 119-127, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528340
12.
Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia.
J Clin Lipidol
; 14(6): 756-761, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33039347
13.
PCSK9 post-transcriptional regulation: Role of a 3'UTR microRNA-binding site variant in linkage disequilibrium with c.1420G.
Atherosclerosis
; 314: 63-70, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186855
14.
Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia.
Atherosclerosis
; 284: 75-82, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30875496
15.
Efficacy of daratumumab in refractory primary Sjögren disease.
RMD Open
; 9(3)2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37730313
16.
New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.
J Clin Lipidol
; 12(5): 1244-1252, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30037590
17.
Alterations in plasma triglycerides lipolysis in patients with history of multifactorial chylomicronemia.
Atherosclerosis
; 265: 22-28, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28829998
18.
[Abstracts from the 30th national days of the Collège National de Biochimie des Hôpitaux]. / Résumés des 30es journées nationales du Collège National de Biochimie des Hôpitaux.
Ann Biol Clin (Paris)
; 80(1): 97-102, 2022 Feb 01.
Artigo
em Francês
| MEDLINE | ID: mdl-35225241
19.
Multiple microRNA regulation of lipoprotein lipase gene abolished by 3'UTR polymorphisms in a triglyceride-lowering haplotype harboring p.Ser474Ter.
Atherosclerosis
; 246: 280-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820803
20.
Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
PLoS One
; 9(6): e99721, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886863