Detalhe da pesquisa
1.
Aryl Hydrocarbon Receptor Controls Monocyte Differentiation into Dendritic Cells versus Macrophages.
Immunity
; 47(3): 582-596.e6, 2017 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28930664
2.
Extracellular vesicles from triple negative breast cancer promote pro-inflammatory macrophages associated with better clinical outcome.
Proc Natl Acad Sci U S A
; 119(17): e2107394119, 2022 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35439048
3.
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Hum Genomics
; 17(1): 7, 2023 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765386
4.
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Clin Genet
; 98(2): 166-171, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32361989
5.
Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples.
BMC Cancer
; 20(1): 366, 2020 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32357863
6.
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Transfusion
; 60(10): 2419-2431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32757236
7.
Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome.
Genes Chromosomes Cancer
; 56(5): 354-362, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27997717
8.
A misleading false-negative result of Pneumocystis real-time PCR assay due to a rare punctual mutation: A French multicenter study.
Med Mycol
; 55(2): 180-184, 2017 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27489302
9.
ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia.
J Pediatr Hematol Oncol
; 39(8): e515-e518, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28562514
10.
Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries.
Blood
; 133(24): 2618-2622, 2019 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31043424
11.
Next-generation sequencing is a credible strategy for blood group genotyping.
Br J Haematol
; 167(4): 554-62, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135605
12.
Semi-supervised integration of single-cell transcriptomics data.
Nat Commun
; 15(1): 872, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287014
13.
SUV39H1 Ablation Enhances Long-term CAR T Function in Solid Tumors.
Cancer Discov
; 14(1): 120-141, 2024 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934001
14.
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Ann Clin Transl Neurol
; 11(4): 1075-1079, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504481
15.
Pneumocystis jirovecii haplotypes at the internal transcribed spacers of the rRNA operon in French HIV-negative patients with diverse clinical presentations of Pneumocystis infections.
Med Mycol
; 51(8): 851-62, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23964829
16.
T Cell Clonal Analysis Using Single-cell RNA Sequencing and Reference Maps.
Bio Protoc
; 13(16): e4735, 2023 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37638293
17.
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Clin Chim Acta
; 551: 117620, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375626
18.
Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.
Children (Basel)
; 10(4)2023 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37189943
19.
Biological determinants of bleeding in patients with heterozygous factor XI deficiency.
Br J Haematol
; 156(2): 245-51, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22098495
20.
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
Am J Med Genet A
; 173(5): 1444-1446, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371320