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rhumatologie
Praticien hospitalier
Créteil (94010)
Épidémiologie & registres · Génétique · IRM ostéo-articulaire
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Rhumatologie (SM) — Diplôme d'Études Spécialisées
Diplôme équivalent d'un pays hors EEE profession Médecin — Capacité / Certificat d'Études Spéciales
2026The British journal of dermatology
PubMed ↗Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D
2026Journal of the American Academy of Dermatology
PubMed ↗Measurement of the severity related to cutaneous neurofibromas in neurofibromatosis type 1: Development and validation of the Nef-ASI
2025Journal of medical genetics
PubMed ↗Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
2024The British journal of dermatology
PubMed ↗A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials
2023European journal of human genetics : EJHG
PubMed ↗Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
2023Journal of the European Academy of Dermatology and Venereology : JEADV
PubMed ↗Neurofibromatosis type 1: Factors associated with flare-ups of cutaneous neurofibromas at puberty
2023The Journal of investigative dermatology
PubMed ↗cNF-Skindex in Adults Living with Neurofibromatosis 1: Severity Strata in France and Validation in United States Adults
2022Rheumatology (Oxford, England)
PubMed ↗Factors associated with remission at 5-year follow-up in recent-onset axial spondyloarthritis: results from the DESIR cohort
2021Calcified tissue international
PubMed ↗Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France
2021Orphanet journal of rare diseases
PubMed ↗Lymphoproliferative malignancies in patients with neurofibromatosis 1
2021Cancers
PubMed ↗Severe Phenotype in Patients with Large Deletions of NF1
2020Orphanet journal of rare diseases
PubMed ↗Neurofibromatosis I and multiple sclerosis
2019The Journal of investigative dermatology
PubMed ↗Absence of Efficacy of Everolimus in Neurofibromatosis 1-Related Plexiform Neurofibromas: Results from a Phase 2a Trial
2019Journal of medical genetics
PubMed ↗Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation
2019Orphanet journal of rare diseases
PubMed ↗Segmental schwannomatosis: characteristics in 12 patients
2016RMD open
PubMed ↗What is the reliability of non-trained investigators in recognising structural MRI lesions of sacroiliac joints in patients with recent inflammatory back pain? Results of the DESIR cohort
2016Acta dermato-venereologica
PubMed ↗Clinical Characteristics of Pruritus in Neurofibromatosis 1
2015Journal of human genetics
PubMed ↗NF1 single and multi-exons copy number variations in neurofibromatosis type 1
2014Arthritis care & research
PubMed ↗Early tumor necrosis factor α antagonist therapy in everyday practice for inflammatory back pain suggesting axial spondyloarthritis: results from a prospective multicenter french cohort
2013Human mutation
PubMed ↗NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience
2013Rheumatology (Oxford, England)
PubMed ↗Factors associated with radiographic lesions in early axial spondyloarthritis. Results from the DESIR cohort
2011Orphanet journal of rare diseases
PubMed ↗At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study
2011Journal of the National Cancer Institute
PubMed ↗Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1
2010The Journal of investigative dermatology
PubMed ↗NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1
2010Human mutation
PubMed ↗NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
2025The Journal of investigative dermatology
PubMed ↗Lower Prevalence of Overweight and Obesity in Adults with Neurofibromatosis
2023The Journal of investigative dermatology
PubMed ↗In-Hospital Clinical Features, Morbidity, and Mortality of Patients with Neurofibromatosis 1 in France: A Nationwide, Population-Based Retrospective Cohort Study
2011Orphanet journal of rare diseases
PubMed ↗Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France
2024The British journal of dermatology
PubMed ↗Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1
2009Human molecular genetics
PubMed ↗Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
2024The Journal of investigative dermatology
PubMed ↗Whole-Body Positron Emission Tomography with (18)F-Fluorodeoxyglucose/Magnetic Resonance Imaging as a Screening Tool for the Detection of Malignant Transformation in Individuals with Neurofibromatosis Type 1
2013Annals of the rheumatic diseases
PubMed ↗Does the site of magnetic resonance imaging abnormalities match the site of recent-onset inflammatory back pain? The DESIR cohort
2018RMD open
PubMed ↗Can power Doppler ultrasound of the entheses help in classifying recent axial spondyloarthritis? Data from the DESIR cohort
2012Orphanet journal of rare diseases
PubMed ↗Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study
2020Orphanet journal of rare diseases
PubMed ↗Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
2026Article
Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D
British Journal of Dermatology
2026Article
Measurement of the severity related to cutaneous neurofibromas in neurofibromatosis type 1: Development and validation of the Nef-ASI
Journal of The American Academy of Dermatology
2025Article
Lower Prevalence of Overweight and Obesity in Adults with Neurofibromatosis
Journal of Investigative Dermatology
2025Article
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
Journal of Medical Genetics
2024Article
A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials
British Journal of Dermatology
2023Article
cNF-Skindex in Adults Living with Neurofibromatosis 1: Severity Strata in France and Validation in United States Adults
Journal of Investigative Dermatology
2023Article
Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
European Journal of Human Genetics
2023Article
Neurofibromatosis type 1: Factors associated with flare‐ups of cutaneous neurofibromas at puberty
Journal of the European Academy of Dermatology and Venereology
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