Docteur SALAH FERKAL
✨ Profil synthétique
IA · 04/05/2026Le Docteur SALAH FERKAL est un rhumatologue hospitalier à Créteil, auteur de publications sur PubMed portant sur l'épidémiologie, la génétique et l'imagerie ostéo-articulaire. Ses travaux couvrent également l'échographie et la pédiatrie. Il contribue également à des revues générales dans le domaine de la rhumatologie.
Expertises présumées
- Épidémiologie des maladies rhumatismales
- Génétique des affections ostéo-articulaires
- IRM ostéo-articulaire
- Échographie diagnostique
- Rhumatologie pédiatrique
- Imagerie médicale en rhumatologie
Synthèse automatique à partir des sources publiques (HAL, OpenAlex, theses.fr, ClinicalTrials.gov, FAI²R, ANS). Pas une évaluation clinique. Le médecin peut corriger via son compte.
Diplômes
🎓 DES & spécialité ordinale
- Rhumatologie (SM)
🎓 Diplômes
- Diplôme équivalent d'un pays hors EEE profession Médecin
Source : Annuaire Santé ANS (FHIR Practitioner.qualification) · Mises à jour quotidiennes.
Bibliographie
Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D
2026ArticleBritish Journal of Dermatology
Measurement of the severity related to cutaneous neurofibromas in neurofibromatosis type 1: Development and validation of the Nef-ASI
2026ArticleJournal of The American Academy of Dermatology
Lower Prevalence of Overweight and Obesity in Adults with Neurofibromatosis
2025ArticleJournal of Investigative Dermatology
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
2025ArticleJournal of Medical Genetics
A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials
2024ArticleBritish Journal of Dermatology
cNF-Skindex in Adults Living with Neurofibromatosis 1: Severity Strata in France and Validation in United States Adults
2023ArticleJournal of Investigative Dermatology
Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
2023ArticleEuropean Journal of Human Genetics
Neurofibromatosis type 1: Factors associated with flare‐ups of cutaneous neurofibromas at puberty
2023ArticleJournal of the European Academy of Dermatology and Venereology
Source : HAL — archive ouverte CCSD/CNRS (couvre articles, chapitres EMC, communications congrès, thèses).
Lieu de consultation
GHU APHP HM SITE HENRI MONDOR
51 Avenue MAL DE LATTRE DE TASSIGNY, 94010 Créteil
☎ 0149812111Hospitalier
Tarifs & secteur de conventionnement
Secteur de conventionnement non disponible (médecin hospitalier ou non présent dans l'Annuaire santé CNAM des libéraux conventionnés).
Prendre rendez-vous & contact
Lien Doctolib = recherche Google site:doctolib.fr (le 1er résultat est presque toujours le profil correct s'il existe).
Top publications · les plus citées
- 1NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Human mutation · 2010
- 3Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
Orphanet journal of rare diseases · 2020
Lire l'abstract Crossref ↓
AbstractNeurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to significant morbidity or mortality. Indeed, NF1 patients are at an increased risk of malignancy and have a life expectancy about 10–15 years shorter than the general population. The mainstay of management of NF1 is a patient-centered longitudinal care with age-specific monitoring of clinical manifestations, aiming at the early recognition and symptomatic treatment of complications as they occur. Protocole national de diagnostic et de soins (PNDS) are mandatory French clinical practice guidelines for rare diseases required by the French national plan for rare diseases. Their purpose is to provide health care professionals with guidance regarding the optimal diagnostic and therapeutic management of patients affected with a rare disease; and thus, harmonizing their management nationwide. PNDS are usually developed through a critical literature review and a multidisciplinary expert consensus. The purpose of this article is to present the French guidelines on NF1, making them even more available to the international medical community. We further dwelled on the emerging new evidence that might have therapeutic potential or a strong impact on NF1 management in the coming feature. Given the complexity of the disease, the management of children and adults with NF1 entails the full complement healthcare providers and communication among the various specialties.
Publications scientifiques (35) — classées par pathologie
Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).
Transversal25
▼
Transversal25
▼- Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D
The British journal of dermatology · 2026 · Journal Article
Fertitta L, Sarin KY, Romo CG, Bergqvist C, et al.
- 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 · 2026 · Journal Article
Fertitta L, Jannic A, Bergqvist C, Delique V, et al.
- Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
Journal of medical genetics · 2025 · Journal Article
Pacot L, Blok M, Vidaud D, Fertitta L, et al.
📚 4 cit. - A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials
The British journal of dermatology · 2024 · Systematic Review
Fertitta L, Bergqvist C, Sarin KY, Plotkin SR, et al.
📚 5 cit.🎯 RCR 1.83 - cNF-Skindex in Adults Living with Neurofibromatosis 1: Severity Strata in France and Validation in United States Adults
The Journal of investigative dermatology · 2023 · Journal Article
Fertitta L, Sarin KY, Bergqvist C, Patel E, et al.
📚 2 cit. - Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
European journal of human genetics : EJHG · 2023 · Journal Article
Pacot L, Chansavang A, Jacques S, Laurendeau I, et al.
📚 2 cit. - Neurofibromatosis type 1: Factors associated with flare-ups of cutaneous neurofibromas at puberty
Journal of the European Academy of Dermatology and Venereology : JEADV · 2023 · Letter
Skayem C, Fertitta L, Diaz E, Jannic A, et al.
- Factors associated with remission at 5-year follow-up in recent-onset axial spondyloarthritis: results from the DESIR cohort
Rheumatology (Oxford, England) · 2022 · Journal Article
Pina Vegas L, Sbidian E, Wendling D, Goupille P, et al.
📚 14 cit.🎯 RCR 1.84🔬→🩺 Translationnel - Severe Phenotype in Patients with Large Deletions of NF1
Cancers · 2021 · Journal Article
Pacot L, Vidaud D, Sabbagh A, Laurendeau I, et al.
📚 29 cit.🎯 RCR 1.97🔬→🩺 Translationnel - Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France
Calcified tissue international · 2021 · Journal Article
Jalabert M, Ferkal S, Souberbielle JC, Sbidian E, et al.
📚 8 cit.🔬→🩺 Translationnel - Lymphoproliferative malignancies in patients with neurofibromatosis 1
Orphanet journal of rare diseases · 2021 · Letter
Bergqvist C, Hemery F, Jannic A, Ferkal S, et al.
📚 7 cit. - Neurofibromatosis I and multiple sclerosis
Orphanet journal of rare diseases · 2020 · Letter
Bergqvist C, Hemery F, Ferkal S, Wolkenstein P
📚 9 cit. - Segmental schwannomatosis: characteristics in 12 patients
Orphanet journal of rare diseases · 2019 · Journal Article
Alaidarous A, Parfait B, Ferkal S, Cohen J, et al.
📚 19 cit. - Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation
Journal of medical genetics · 2019 · Journal Article
Frayling IM, Mautner VF, van Minkelen R, Kallionpaa RA, et al.
📚 32 cit.🎯 RCR 1.49 - Absence of Efficacy of Everolimus in Neurofibromatosis 1-Related Plexiform Neurofibromas: Results from a Phase 2a Trial
The Journal of investigative dermatology · 2019 · Clinical Trial
Zehou O, Ferkal S, Brugieres P, Barbarot S, et al.
📚 22 cit.🎯 RCR 1.05🩺 Clinique - 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
RMD open · 2016 · Journal Article
Jacquemin C, Rubio Vargas R, van den Berg R, Thévenin F, et al.
📚 17 cit.🔬→🩺 Translationnel - Clinical Characteristics of Pruritus in Neurofibromatosis 1
Acta dermato-venereologica · 2016 · Journal Article
Brenaut E, Nizery-Guermeur C, Audebert-Bellanger S, Ferkal S, et al.
📚 22 cit.🎯 RCR 1.21🔬→🩺 Translationnel - NF1 single and multi-exons copy number variations in neurofibromatosis type 1
Journal of human genetics · 2015 · Journal Article
Imbard A, Pasmant E, Sabbagh A, Luscan A, et al.
📚 17 cit. - Early tumor necrosis factor α antagonist therapy in everyday practice for inflammatory back pain suggesting axial spondyloarthritis: results from a prospective multicenter french cohort
Arthritis care & research · 2014 · Journal Article
Canouï-Poitrine F, Poulain C, Molto A, Le Thuaut A, et al.
📚 10 cit.🔬→🩺 Translationnel - NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience
Human mutation · 2013 · Journal Article
Sabbagh A, Pasmant E, Imbard A, Luscan A, et al.
📚 140 cit.🎯 RCR 4.40🔬→🩺 Translationnel - Factors associated with radiographic lesions in early axial spondyloarthritis. Results from the DESIR cohort
Rheumatology (Oxford, England) · 2013 · Journal Article
Blachier M, Canouï-Poitrine F, Dougados M, Lethuaut A, et al.
📚 27 cit.🔬→🩺 Translationnel - Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1
Journal of the National Cancer Institute · 2011 · Journal Article
Pasmant E, Sabbagh A, Masliah-Planchon J, Ortonne N, et al.
📚 93 cit.🎯 RCR 2.07🔬→🩺 Translationnel - At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study
Orphanet journal of rare diseases · 2011 · Journal Article
Sbidian E, Bastuji-Garin S, Valeyrie-Allanore L, Ferkal S, et al.
📚 13 cit. - NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1
The Journal of investigative dermatology · 2010 · Clinical Trial
Sbidian E, Wolkenstein P, Valeyrie-Allanore L, Rodriguez D, et al.
📚 30 cit.🎯 RCR 1.10🩺 Clinique - NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Human mutation · 2010 · Journal Article
Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, et al.
📚 181 cit.🎯 RCR 4.59🔬→🩺 Translationnel
Épidémiologie & registres3
▼
Épidémiologie & registres3
▼- Lower Prevalence of Overweight and Obesity in Adults with Neurofibromatosis
The Journal of investigative dermatology · 2025 · Journal Article
Mengeot L, Pasmant E, Fontbonne A, Tounian P, et al.
- In-Hospital Clinical Features, Morbidity, and Mortality of Patients with Neurofibromatosis 1 in France: A Nationwide, Population-Based Retrospective Cohort Study
The Journal of investigative dermatology · 2023 · Journal Article
Diaz E, Bergqvist C, Peiffer B, Fertitta L, et al.
📚 7 cit.🎯 RCR 1.47 - Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France
Orphanet journal of rare diseases · 2011 · Journal Article
Duong TA, Sbidian E, Valeyrie-Allanore L, Vialette C, et al.
📚 85 cit.🎯 RCR 2.53🔬→🩺 Translationnel
Génétique2
▼
Génétique2
▼- Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1
The British journal of dermatology · 2024 · Journal Article
Pacot L, Sabbagh A, Sohier P, Hadjadj D, et al.
📚 7 cit.🎯 RCR 1.99 - Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
Human molecular genetics · 2009 · Journal Article
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, et al.
📚 111 cit.🎯 RCR 2.61🔬→🩺 Translationnel
IRM ostéo-articulaire2
▼
IRM ostéo-articulaire2
▼- 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
The Journal of investigative dermatology · 2024 · Journal Article
Fertitta L, Jannic A, Zehou O, Bergqvist C, et al.
📚 7 cit.🎯 RCR 1.77 - Does the site of magnetic resonance imaging abnormalities match the site of recent-onset inflammatory back pain? The DESIR cohort
Annals of the rheumatic diseases · 2013 · Journal Article
Blachier M, Coutanceau B, Dougados M, Saraux A, et al.
📚 26 cit.🔬→🩺 Translationnel
Échographie1
▼
Échographie1
▼- Can power Doppler ultrasound of the entheses help in classifying recent axial spondyloarthritis? Data from the DESIR cohort
RMD open · 2018 · Journal Article
Poulain C, D'Agostino MA, Thibault S, Daures JP, et al.
📚 7 cit.
Pédiatrie1
▼
Pédiatrie1
▼- Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study
Orphanet journal of rare diseases · 2012 · Journal Article
Sbidian E, Hadj-Rabia S, Riccardi VM, Valeyrie-Allanore LL, et al.
📚 15 cit.🔬→🩺 Translationnel
Revue générale1
▼
Revue générale1
▼- Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
Orphanet journal of rare diseases · 2020 · Journal Article
Bergqvist C, Servy A, Valeyrie-Allanore L, Ferkal S, et al.
📚 124 cit.🎯 RCR 8.48🔬→🩺 Translationnel
