S. Ferkal

发表

NF1 single and multi-exons copy number variations in neurofibromatosis type 1

H. Blanché, E. Pasmant, A. Sabbagh, 2015, Journal of Human Genetics.

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience

H. Blanché, E. Pasmant, A. Sabbagh, 2013, Human mutation.

Neurofibromatosis I and multiple sclerosis

P. Wolkenstein, S. Ferkal, F. Hemery, 2020, Orphanet Journal of Rare Diseases.

Impact of neurofibromatosis 1 upon quality of life in childhood: a cross‐sectional study of 79 cases

P. Wolkenstein, S. Ferkal, V. Buret, 2009, The British journal of dermatology.

[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis

S. Ferkal, B. Funalot, S. Mulé, 2021, Orphanet Journal of Rare Diseases.

NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1.

P. Berbis, P. Wolkenstein, S. Ferkal, 2010, The Journal of investigative dermatology.

Does the site of magnetic resonance imaging abnormalities match the site of recent-onset inflammatory back pain? The DESIR cohort

M. Dougados, M. Blachier, A. Saraux, 2012, Annals of the rheumatic diseases.

Histopathologically dysplastic neurofibromas in neurofibromatosis 1: diagnostic criteria, prevalence and clinical significance

P. Wolkenstein, S. Ferkal, M. Bagot, 2008, The British journal of dermatology.

At-Risk Phenotype of Neurofibromatose-1 Patients: A Multicentre Case-Control Study

J. Lefaucheur, P. Wolkenstein, S. Ferkal, 2011, Orphanet journal of rare diseases.

Segmental schwannomatosis: characteristics in 12 patients

P. Wolkenstein, B. Parfait, S. Ferkal, 2019, Orphanet Journal of Rare Diseases.

Quality of life in neurofibromatosis 1: development and validation of a tool dedicated to cutaneous neurofibromas in adults

S. Ferkal, K. Ezzedine, P. Ravaud, 2022, Journal of the European Academy of Dermatology and Venereology : JEADV.

Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients

S. Ferkal, E. Sbidian, S. Barbarot, 2022, Journal of the European Academy of Dermatology and Venereology : JEADV.

Evolving Pattern with Age of Cutaneous Signs in Neurofibromatosis Type 1: A Cross-Sectional Study of 728 Patients

P. Wolkenstein, S. Ferkal, E. Sbidian, 2011, Dermatology.

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

P. Wolkenstein, S. Ferkal, P. Combemale, 2020, Orphanet journal of rare diseases.

Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study

V. Riccardi, P. Wolkenstein, S. Ferkal, 2012, Orphanet Journal of Rare Diseases.

Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.

I. Bièche, E. Pasmant, A. Sabbagh, 2011, Journal of the National Cancer Institute.

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

E. Pasmant, A. Sabbagh, M. Vidaud, 2009, Human molecular genetics.

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

S. Lyonnet, P. Wolkenstein, S. Ferkal, 2011, Orphanet journal of rare diseases.

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

M. Sanson, J. Soulier, I. Bièche, 2010, Human mutation.

Absence of Efficacy of Everolimus in Neurofibromatosis 1-Related Plexiform Neurofibromas: Results from a Phase 2a Trial.

P. Brugières, P. Wolkenstein, S. Ferkal, 2019, The Journal of investigative dermatology.

Severe Phenotype in Patients with Large Deletions of NF1

S. Julia, E. Pasmant, A. Sabbagh, 2021, Cancers.

Lymphoproliferative malignancies in patients with neurofibromatosis 1

S. Ferkal, F. Hemery, C. Bergqvist, 2021, Orphanet Journal of Rare Diseases.

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

D. Baralle, P. Summerour, D. Eccles, 2018, Journal of Medical Genetics.

Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France

P. Wolkenstein, S. Ferkal, J. Souberbielle, 2021, Calcified Tissue International.

Early Tumor Necrosis Factor α Antagonist Therapy in Everyday Practice for Inflammatory Back Pain Suggesting Axial Spondyloarthritis: Results From a Prospective Multicenter French Cohort

M. Dougados, S. Ferkal, B. Fautrel, 2014, Arthritis care & research.

Can power Doppler ultrasound of the entheses help in classifying recent axial spondyloarthritis? Data from the DESIR cohort

M. Dougados, A. Rahmouni, J. Daurès, 2018, RMD Open.

Clinical Characteristics of Pruritus in Neurofibromatosis 1.

L. Misery, P. Wolkenstein, S. Ferkal, 2016, Acta dermato-venereologica.

Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

I. Laurendeau, D. Vidaud, Laurence Pacot, 2023, European Journal of Human Genetics.

Factors associated with remission at 5-year follow-up in recent-onset axial spondyloarthritis: results from the DESIR cohort

A. Luciani, S. Ferkal, P. Goupille, 2021, Rheumatology.

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

M. Dougados, A. Rahmouni, D. M. van der Heijde, 2016, RMD Open.

Factors associated with radiographic lesions in early axial spondyloarthritis. Results from the DESIR cohort.

M. Dougados, M. Blachier, S. Ferkal, 2013, Rheumatology.

cNF-Skindex in adults living with Neurofibromatosis 1: severity strata in France and validation in US adults.

P. Ravaud, P. Wolkenstein, S. Ferkal, 2023, The Journal of investigative dermatology.

In-hospital clinical features, morbidity and mortality of patients with Neurofibromatosis 1 in France: a nationwide, population-based retrospective cohort study.

S. Ferkal, F. Hemery, C. Bergqvist, 2023, The Journal of investigative dermatology.

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

M. Dougados, A. Rahmouni, D. M. van der Heijde, 2016, RMD Open.

Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1,333 neurofibromatosis type 1 patients.

E. Pasmant, I. Laurendeau, J. Deleuze, 2023, The British journal of dermatology.