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
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
Inglês
| MEDLINE | ID: mdl-35941319
3.
VEGF and VEGFR family members are expressed by neoplastic cells of NF1-associated tumors and may play an oncogenic role in malignant peripheral nerve sheath tumor growth through an autocrine loop.
Ann Diagn Pathol
; 60: 151997, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-35777330
4.
Involvement of Aryl hydrocarbon receptor in myelination and in human nerve sheath tumorigenesis.
Proc Natl Acad Sci U S A
; 115(6): E1319-E1328, 2018 02 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29351992
5.
Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.
Genes Chromosomes Cancer
; 56(5): 421-426, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28124441
6.
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.
J Med Genet
; 53(11): 743-751, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27317772
7.
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
J Hum Genet
; 60(4): 221-4, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25631097
8.
Mutations in SETD2 cause a novel overgrowth condition.
J Med Genet
; 51(8): 512-7, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24852293
9.
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Hum Mol Genet
; 21(26): 5397-405, 2012 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22962301
10.
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
Inglês
| MEDLINE | ID: mdl-38008284
11.
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Hum Mutat
; 34(11): 1510-8, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23913538
12.
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
Inglês
| MEDLINE | ID: mdl-23848554
13.
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.
Hum Mol Genet
; 20(20): 3974-85, 2011 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21784903
14.
Interleukin-25: a cytokine linking eosinophils and adaptive immunity in Churg-Strauss syndrome.
Blood
; 116(22): 4523-31, 2010 Nov 25.
Artigo
Inglês
| MEDLINE | ID: mdl-20729468
15.
Thrombospondin-1 is a plasmatic marker of peripheral arterial disease that modulates endothelial progenitor cell angiogenic properties.
Arterioscler Thromb Vasc Biol
; 31(3): 551-9, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21148423
16.
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Hum Mol Genet
; 18(15): 2768-78, 2009 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-19417008
17.
Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.
Mol Med
; 17(1-2): 79-87, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-20844836
18.
The Wnt antagonist Dickkopf-1 increases endothelial progenitor cell angiogenic potential.
Arterioscler Thromb Vasc Biol
; 30(12): 2544-52, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20847303
19.
In vivo hepatic endoplasmic reticulum stress in patients with chronic hepatitis C.
J Pathol
; 221(3): 264-74, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20527020
20.
Severe Phenotype in Patients with Large Deletions of NF1.
Cancers (Basel)
; 13(12)2021 Jun 13.
Artigo
Inglês
| MEDLINE | ID: mdl-34199217