A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials
Laura Fertitta, Christina Bergqvist, Kavita Sarin, Scott R Plotkin, Christopher Moertel, Andrea J Petersen, Ashley Cannon, Yemima Berman, Dominique C Pichard, Class Röhl, Andres Lessing, Bernadette Brizion, Bastien Peiffer, Philippe Ravaud, Viet-Thi Tran, Marie-Laure Armand, Sabine Moryousef, Salah Ferkal, Arnaud Jannic, Khaled Ezzedine, Pierre Wolkenstein
Br J Dermatol. 2023 Oct 25:ljad397. doi: 10.1093/bjd/ljad397.
Online ahead of print.
PMID: 37877514
Topical delivery of MEK inhibitor binimetinib prevents the development of cutaneous neurofibromas in Neurofibromatosis type 1 mutant mice
Coulpier F, Pulh P, Oubrou L, Naudet J, Fertitta L, Gregoire JM, Bocquet A, Schmitt AM, Wolkenstein P, Radomska KJ, Topilko P.
Transl Res. 2023 Jun 16:S1931-5244(23)00105-6. doi: 10.1016/j.trsl.2023.06.003. Online ahead of print.
PMID: 37331503
In-hospital clinical features, morbidity and mortality of patients with Neurofibromatosis 1 in France: a nationwide, population-based retrospective cohort study
Diaz E, Bergqvist C, Peiffer B, Fertitta L, Jannic A, Ferkal S, Zehou O, Hemery F, Sbidian E, Wolkenstein P.
J Invest Dermatol. 2023 May 29:S0022-202X(23)02128-0. doi: 10.1016/j.jid.2023.04.034. Online ahead of print.
PMID: 37257636
French cohort of children and adolescents with neurofibromatosis type 1 and symptomatic inoperable plexiform neurofibromas: CASSIOPEA study
Wolkenstein P, Chaix Y, Entz Werle N, Amini-Adle M, Barbarot S, Boileau C, Miled A, Rashid T, Aerts I.
Eur J Med Genet. 2023 May;66(5):104734. doi: 10.1016/j.ejmg.2023.104734. Epub 2023 Mar 2.
PMID: 36868501
Neurofibromatosis type 1: Factors associated with flare-ups of cutaneous neurofibromas at puberty
Skayem C, Fertitta L, Diaz E, Jannic A, Ferkal S, Ravaud P, Tran VT, Ezzedine K, Wolkenstein P.
J Eur Acad Dermatol Venereol. 2023 Feb;37(2):e158-e159. doi: 10.1111/jdv.18652. Epub 2022 Oct 20.
PMID: 36226401 No abstract available.
cNF-Skindex in Adults Living with Neurofibromatosis 1: Severity Strata in France and Validation in United States Adults
Fertitta L, Sarin KY, Bergqvist C, Patel E, Peiffer B, Moryousef S, Armand ML, Jannic A, Ferkal S, Ravaud P, Tran VT, Blakeley JO, Romo CG, Ezzedine K, Wolkenstein P.
J Invest Dermatol. 2023 May 5:S0022-202X(23)02048-1. doi: 10.1016/j.jid.2023.04.014. Online ahead of print.
PMID: 37149083
Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
Pacot L, Chansavang A, Jacques S, Laurendeau I, Hadjadj D, Ferkal S, Wolkenstein P, Vidaud D, Pasmant E.
Eur J Hum Genet. 2023 Apr;31(4):380-382. doi: 10.1038/s41431-023-01304-0. Epub 2023 Feb 3.
PMID: 36732663 No abstract available.
Quality of life in neurofibromatosis 1: development and validation of a tool dedicated to cutaneous neurofibromas in adults
Fertitta L, Bergqvist C, Armand ML, Moryousef S, Ferkal S, Jannic A, Ravaud P, Tran VT, Ezzedine K, Wolkenstein P.
J Eur Acad Dermatol Venereol. 2022 Aug;36(8):1359-1366. doi: 10.1111/jdv.18140. Epub 2022 Apr 28.
PMID: 35412677
Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients
Bergqvist C, Fertitta L, Ezzedine K, Jannic A, Zehou O, Ferkal S, Combemale P, Barbarot S, Mazereeuw-Hautier J, Sbidian E, Wolkenstein P; NF France.
J Eur Acad Dermatol Venereol. 2022 May;36(5):739-743. doi: 10.1111/jdv.17974. Epub 2022 Mar 1.
PMID: 35098592.
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
Bonsang B, Maksimovic L, Maille P, Martin N, Laurendeau I, Pasmant E, Bièche I, Deschamps J, Wolkenstein P, Ortonne N.
Ann Diagn Pathol. 2022 Oct;60:151997. doi: 10.1016/j.anndiagpath.2022.151997. Epub 2022 Jun 23.
PMID: 35777330.
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
Forde C, Burkitt-Wright E, Turnpenny PD, Haan E, Ealing J, Mansour S, Holder M, Lahiri N, Dixit A, Procter A, Pacot L, Vidaud D, Capri Y, Gerard M, Dollfus H, Schaefer E, Quelin C, Sigaudy S, Busa T, Vera G, Damaj L, Messiaen L, Stevenson DA, Davies P, Palmer-Smith S, Callaway A, Wolkenstein P, Pasmant E, Upadhyaya M.
Eur J Hum Genet. 2022 Mar;30(3):291-297. doi: 10.1038/s41431-021-01015-4. Epub 2021 Dec 13.
PMID: 34897289 Free PMC article.
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience
Peltonen S, Jannic A, Wolkenstein P.
Eur J Med Genet. 2022 Jan;65(1):104386. doi: 10.1016/j.ejmg.2021.104386. Epub 2021 Nov 9.
PMID: 34768015
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR.
Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19.
PMID: 34012067 Free PMC article.
Severe Phenotype in Patients with Large Deletions of NF1
Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, Audic F, Dollfus H, Guerrot AM, Lespinasse J, Julia S, Vantyghem MC, Drouard M, Lackmy M, Leheup B, Alembik Y, Lemaire A, Nitschké P, Petit F, Dieux Coeslier A, Mutez E, Taieb A, Fradin M, Capri Y, Nasser H, Ruaud L, Dauriat B, Bourthoumieu S, Geneviève D, Audebert-Bellanger S, Nizon M, Stoeva R, Hickman G, Nicolas G, Mazereeuw-Hautier J, Jannic A, Ferkal S, Parfait B, Vidaud M, Members Of The Nf France Network, Wolkenstein P, Pasmant E.
Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963.
PMID: 34199217 Free PMC article.
Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France
Jalabert M, Ferkal S, Souberbielle JC, Sbidian E, Mageau A, Eymard F, Le Corvoisier P, Allanore L, Chevalier X, Wolkenstein P, Guignard S.
Calcif Tissue Int. 2021 Jun;108(6):738-745. doi: 10.1007/s00223-021-00807-6. Epub 2021 Feb 8.
PMID: 33558959
Lymphoproliferative malignancies in patients with neurofibromatosis 1
Bergqvist C, Hemery F, Jannic A, Ferkal S, Wolkenstein P.
Orphanet J Rare Dis. 2021 May 19;16(1):230. doi: 10.1186/s13023-021-01856-8.
PMID: 34011343 Free PMC article.
MEK inhibitors in RASopathies
Bergqvist C, Wolkenstein P.
Curr Opin Oncol. 2021 Mar 1;33(2):110-119. doi: 10.1097/CCO.0000000000000711.
PMID: 33395032 Review.
Identifying challenges in neurofibromatosis: a modified Delphi procedure
Dhaenens BAE, Ferner RE, Bakker A, Nievo M, Evans DG, Wolkenstein P, Potratz C, Plotkin SR, Heimann G, Legius E, Oostenbrink R.
Eur J Hum Genet. 2021 Nov;29(11):1625-1633. doi: 10.1038/s41431-021-00892-z. Epub 2021 Apr 26.
PMID: 33903738 Free PMC article.