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.
Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Circulation
; 146(10): 724-739, 2022 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899625
4.
Factors Predicting Statin Initiation During Childhood in Familial Hypercholesterolemia: Importance of Genetic Diagnosis.
J Pediatr
; 253: 18-24.e2, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36049522
5.
New CRISPR Technology for Creating Cell Models of Lipoprotein Assembly and Secretion.
Curr Atheroscler Rep
; 25(5): 209-217, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913170
6.
Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile.
Arterioscler Thromb Vasc Biol
; 42(10): 1262-1271, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36047410
7.
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol
; 41(1): e63-e71, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33207932
8.
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
9.
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
10.
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
11.
Combination of heterozygous APOB gene mutation with PNPLA3 and TM6SF2 variants promotes steatotic liver disease, cirrhosis and HCC development.
Liver Int
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421084
12.
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
13.
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease.
J Lipid Res
; 59(9): 1640-1648, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30021760
14.
Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis.
J Intern Med
; 293(1): 121-123, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36085581
15.
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
16.
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
17.
An APOA5 3' UTR variant associated with plasma triglycerides triggers APOA5 downregulation by creating a functional miR-485-5p binding site.
Am J Hum Genet
; 94(1): 129-34, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24387992
18.
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
J Lipid Res
; 57(3): 482-91, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26802169
19.
Lipid profile and cardiovascular risk factors in pediatric liver transplant recipients.
Pediatr Transplant
; 20(2): 241-8, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26750745
20.
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
J Hepatol
; 61(4): 891-902, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24842304