Detalhe da pesquisa
1.
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Br J Dermatol
; 190(2): 226-243, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831592
2.
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Hum Genet
; 142(1): 1-9, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35941319
3.
Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis.
Genes Dev
; 29(24): 2547-62, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637281
4.
EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancer.
Proc Natl Acad Sci U S A
; 116(13): 6075-6080, 2019 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30867289
5.
Accuracy of saliva and nasopharyngeal sampling for detection of SARS-CoV-2 in community screening: a multicentric cohort study.
Eur J Clin Microbiol Infect Dis
; 40(11): 2379-2388, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342768
6.
Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options.
J Med Genet
; 57(2): 104-108, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352869
7.
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.
Nature
; 514(7521): 247-51, 2014 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25119042
8.
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Clin Chem Lab Med
; 56(5): 728-738, 2018 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29613853
9.
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.
Biochim Biophys Acta
; 1862(10): 1861-70, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27425035
10.
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.
J Med Genet
; 53(11): 743-751, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27317772
11.
Identification by FFPE RNA-Seq of a new recurrent inversion leading to RBM10-TFE3 fusion in renal cell carcinoma with subtle TFE3 break-apart FISH pattern.
Genes Chromosomes Cancer
; 55(6): 541-8, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26998913
12.
CYP46A1 inhibition, brain cholesterol accumulation and neurodegeneration pave the way for Alzheimer's disease.
Brain
; 138(Pt 8): 2383-98, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26141492
13.
Reduction of microRNA 122 expression in IFNL3 CT/TT carriers and during progression of fibrosis in patients with chronic hepatitis C.
J Virol
; 88(11): 6394-402, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24672032
14.
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
J Hum Genet
; 60(4): 221-4, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25631097
15.
Mutations in SETD2 cause a novel overgrowth condition.
J Med Genet
; 51(8): 512-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24852293
16.
Prostate cancer outcomes in France: treatments, adverse effects and two-year mortality.
BMC Urol
; 14: 48, 2014 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24927850
17.
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
J Mol Diagn
; 26(2): 150-157, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38008284
18.
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Hum Mutat
; 34(11): 1510-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913538
19.
MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis.
BMC Genomics
; 14: 473, 2013 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23848554
20.
Neurofibromatosis type 1: from genotype to phenotype.
J Med Genet
; 49(8): 483-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22889851