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Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1.
Sarin KY, Bradshaw M, O'Mara C, Shahryari J, Kincaid J, Kempers S, Tu JH, Dhawan S, DuBois J, Wilson D, Horwath P, de Souza MP, Powala C, Kochendoerfer GG, Plotkin SR, Webster GF, Le LQ. Sarin KY, et al. Among authors: le lq. Sci Adv. 2024 May 3;10(18):eadk4946. doi: 10.1126/sciadv.adk4946. Epub 2024 May 1. Sci Adv. 2024. PMID: 38691597 Free PMC article. Clinical Trial.
A Call for Discovery and Therapeutic Development for Cutaneous Neurofibromas.
Blakeley JO, Le LQ, Lee SY, Ly I, Rhodes SD, Romo CG, Sarin KY, Staedtke V, Steensma MR, Wolkenstein P; 2022 NTAP Cutaneous Neurofibroma Symposium Participants. Blakeley JO, et al. Among authors: le lq. J Invest Dermatol. 2023 Aug;143(8):1351-1357. doi: 10.1016/j.jid.2022.11.027. Epub 2023 Jun 21. J Invest Dermatol. 2023. PMID: 37354152 No abstract available.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.
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. Legius E, et al. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
91 results