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ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.
Evans DG, Mostaccioli S, Pang D, Fadzil O Connor M, Pittara M, Champollion N, Wolkenstein P, Thomas N, Ferner RE, Kalamarides M, Peyre M, Papi L, Legius E, Becerra JL, King A, Duff C, Stivaros S, Blanco I. Evans DG, et al. Among authors: papi l. Eur J Hum Genet. 2022 Jul;30(7):812-817. doi: 10.1038/s41431-022-01086-x. Epub 2022 Apr 1. Eur J Hum Genet. 2022. PMID: 35361920 Free PMC article.
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
Plotkin SR, Blakeley JO, Evans DG, Hanemann CO, Hulsebos TJ, Hunter-Schaedle K, Kalpana GV, Korf B, Messiaen L, Papi L, Ratner N, Sherman LS, Smith MJ, Stemmer-Rachamimov AO, Vitte J, Giovannini M. Plotkin SR, et al. Among authors: papi l. Am J Med Genet A. 2013 Mar;161A(3):405-16. doi: 10.1002/ajmg.a.35760. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401320 Free PMC article.
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson E, Hulsebos TJ, Giovannini M, Nelson SF, Papi L. Paganini I, et al. Among authors: papi l. Eur J Hum Genet. 2015 Jul;23(7):963-8. doi: 10.1038/ejhg.2014.220. Epub 2014 Oct 22. Eur J Hum Genet. 2015. PMID: 25335493 Free PMC article.
Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis.
Ahlawat S, Fayad LM, Khan MS, Bredella MA, Harris GJ, Evans DG, Farschtschi S, Jacobs MA, Chhabra A, Salamon JM, Wenzel R, Mautner VF, Dombi E, Cai W, Plotkin SR, Blakeley JO; Whole Body MRI Committee for the REiNS International Collaboration; REiNS International Collaboration Members 2016. Ahlawat S, et al. Neurology. 2016 Aug 16;87(7 Suppl 1):S31-9. doi: 10.1212/WNL.0000000000002929. Neurology. 2016. PMID: 27527647 Free PMC article.
Creation of an international registry to support discovery in schwannomatosis.
Ostrow KL, Bergner AL, Blakeley J, Evans DG, Ferner R, Friedman JM, Harris GJ, Jordan JT, Korf B, Langmead S, Leschziner G, Mautner V, Merker VL, Papi L, Plotkin SR, Slopis JM, Smith MJ, Stemmer-Rachamimov A, Yohay K, Belzberg AJ. Ostrow KL, et al. Among authors: papi l. Am J Med Genet A. 2017 Feb;173(2):407-413. doi: 10.1002/ajmg.a.38024. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759912
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Mansouri S, Suppiah S, Mamatjan Y, Paganini I, Liu JC, Karimi S, Patil V, Nassiri F, Singh O, Sundaravadanam Y, Rath P, Sestini R, Gensini F, Agnihotri S, Blakeley J, Ostrow K, Largaespada D, Plotkin SR, Stemmer-Rachamimov A, Ferrer MM, Pugh TJ, Aldape KD, Papi L, Zadeh G. Mansouri S, et al. Among authors: papi l. Acta Neuropathol. 2021 Jan;141(1):101-116. doi: 10.1007/s00401-020-02230-x. Epub 2020 Oct 6. Acta Neuropathol. 2021. PMID: 33025139 Free PMC 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.
139 results