Detalhe da pesquisa
1.
A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials.
Br J Dermatol
; 190(2): 216-225, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37877514
2.
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
3.
Factors associated with remission at 5-year follow-up in recent-onset axial spondyloarthritis: results from the DESIR cohort.
Rheumatology (Oxford)
; 61(4): 1487-1495, 2022 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270707
4.
Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France.
Calcif Tissue Int
; 108(6): 738-745, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558959
5.
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
J Med Genet
; 56(4): 209-219, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530636
6.
Neurofibromatosis type 1: Factors associated with flare-ups of cutaneous neurofibromas at puberty.
J Eur Acad Dermatol Venereol
; 37(2): e158-e159, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226401
7.
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
8.
Whole-Body Positron Emission Tomography with 18F-Fluorodeoxyglucose/Magnetic Resonance Imaging as a Screening Tool for the Detection of Malignant Transformation in Individuals with Neurofibromatosis Type 1.
J Invest Dermatol
; 2024 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38368929
9.
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
10.
Does the site of magnetic resonance imaging abnormalities match the site of recent-onset inflammatory back pain? The DESIR cohort.
Ann Rheum Dis
; 72(6): 979-85, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22893316
11.
Factors associated with radiographic lesions in early axial spondyloarthritis. Results from the DESIR cohort.
Rheumatology (Oxford)
; 52(9): 1686-93, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23764945
12.
In-Hospital Clinical Features, Morbidity, and Mortality of Patients with Neurofibromatosis 1 in France: A Nationwide, Population-Based Retrospective Cohort Study.
J Invest Dermatol
; 143(12): 2408-2415.e7, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37257636
13.
cNF-Skindex in Adults Living with Neurofibromatosis 1: Severity Strata in France and Validation in United States Adults.
J Invest Dermatol
; 143(11): 2226-2232.e1, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149083
14.
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Hum Mol Genet
; 18(15): 2768-78, 2009 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19417008
15.
Clinical Characteristics of Pruritus in Neurofibromatosis 1.
Acta Derm Venereol
; 96(3): 398-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26349448
16.
Lymphoproliferative malignancies in patients with neurofibromatosis 1.
Orphanet J Rare Dis
; 16(1): 230, 2021 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34011343
17.
Severe Phenotype in Patients with Large Deletions of NF1.
Cancers (Basel)
; 13(12)2021 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34199217
18.
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
Hum Mutat
; 31(6): E1506-18, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513137
19.
Neurofibromatosis I and multiple sclerosis.
Orphanet J Rare Dis
; 15(1): 186, 2020 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32664938
20.
Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966.
Orphanet J Rare Dis
; 15(1): 37, 2020 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32014052