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A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials.
Fertitta L, Bergqvist C, Sarin KY, Plotkin SR, Moertel C, Petersen AK, Cannon A, Berman Y, Pichard DC, Röhl C, Lessing A, Brizion B, Peiffer B, Ravaud P, Tran VT, Armand ML, Moryousef S, Ferkal S, Jannic A, Ezzedine K, Wolkenstein P; Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) international collaboration. Fertitta L, et al. Br J Dermatol. 2024 Jan 23;190(2):216-225. doi: 10.1093/bjd/ljad397. Br J Dermatol. 2024. PMID: 37877514
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.
Management of neurofibromatosis type 1-associated plexiform neurofibromas.
Fisher MJ, Blakeley JO, Weiss BD, Dombi E, Ahlawat S, Akshintala S, Belzberg AJ, Bornhorst M, Bredella MA, Cai W, Ferner RE, Gross AM, Harris GJ, Listernick R, Ly I, Martin S, Mautner VF, Salamon JM, Salerno KE, Spinner RJ, Staedtke V, Ullrich NJ, Upadhyaya M, Wolters PL, Yohay K, Widemann BC. Fisher MJ, et al. Among authors: listernick r. Neuro Oncol. 2022 Nov 2;24(11):1827-1844. doi: 10.1093/neuonc/noac146. Neuro Oncol. 2022. PMID: 35657359 Free PMC article. Review.
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.
Visual field outcomes in children treated for neurofibromatosis type 1-associated optic pathway gliomas: a multicenter retrospective study.
Heidary G, Fisher MJ, Liu GT, Ferner RE, Gutmann DH, Listernick RH, Kapur K, Loguidice M, Ardern-Holmes SL, Avery RA, Hammond C, Hoffman RO, Hummel TR, Kuo A, Reginald A, Ullrich NJ. Heidary G, et al. Among authors: listernick rh. J AAPOS. 2020 Dec;24(6):349.e1-349.e5. doi: 10.1016/j.jaapos.2020.07.013. Epub 2020 Nov 20. J AAPOS. 2020. PMID: 33221469
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB… See abstract for full author list ➔ Koczkowska M, et al. Among authors: listernick rh. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
251 results