Detalhe da pesquisa
1.
FUBP1: a new protagonist in splicing regulation of the DMD gene.
Nucleic Acids Res
; 43(4): 2378-89, 2015 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25662218
2.
PSMB10, the last immunoproteasome gene missing for PRAAS.
J Allergy Clin Immunol
; 145(3): 1015-1017.e6, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31783057
3.
First report of MEFV gene duplication in a patient with familial Mediterranean fever.
Clin Exp Rheumatol
; 38 Suppl 127(5): 129-130, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33331269
4.
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.
Hum Mutat
; 34(8): 1080-4, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23649991
5.
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.
J Med Genet
; 48(3): 152-9, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20972246
6.
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Eur J Hum Genet
; 30(9): 1076-1082, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35729264
7.
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?
Hum Mutat
; 32(4): 467-75, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21305657
8.
TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Sci Rep
; 11(1): 4172, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603056
9.
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.
J Mol Diagn
; 18(5): 731-740, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27425820
10.
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
Eur J Hum Genet
; 20(10): 1096-100, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22510846