Detalhe da pesquisa
1.
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
2.
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
Hum Mutat
; 41(2): 465-475, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31730716
3.
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
4.
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Br J Haematol
; 201(4): e46-e49, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928866
5.
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
6.
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?
DNA Cell Biol
; 40(3): 491-498, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493017
7.
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
8.
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
9.
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
10.
Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes.
DNA Cell Biol
; 34(7): 489-96, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25849606