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69 results

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Page 1
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.
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. Among authors: maccollin m. 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.
Diagnostic criteria for schwannomatosis.
MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES. MacCollin M, et al. Neurology. 2005 Jun 14;64(11):1838-45. doi: 10.1212/01.WNL.0000163982.78900.AD. Neurology. 2005. PMID: 15955931 Review.
Merlin: the neurofibromatosis 2 tumor suppressor.
Gusella JF, Ramesh V, MacCollin M, Jacoby LB. Gusella JF, et al. Among authors: maccollin m. Biochim Biophys Acta. 1999 Mar 25;1423(2):M29-36. doi: 10.1016/s0304-419x(99)00005-0. Biochim Biophys Acta. 1999. PMID: 10214350 Review.
Schwannomatosis: a clinical and pathologic study.
MacCollin M, Woodfin W, Kronn D, Short MP. MacCollin M, et al. Neurology. 1996 Apr;46(4):1072-9. doi: 10.1212/wnl.46.4.1072. Neurology. 1996. PMID: 8780094 Review.
Familial occurrence of adiposis dolorosa.
Campen R, Mankin H, Louis DN, Hirano M, Maccollin M. Campen R, et al. Among authors: maccollin m. J Am Acad Dermatol. 2001 Jan;44(1):132-6. doi: 10.1067/mjd.2001.110872. J Am Acad Dermatol. 2001. PMID: 11148491
Neurofibromatosis 2 in the pediatric population.
Nunes F, MacCollin M. Nunes F, et al. Among authors: maccollin m. J Child Neurol. 2003 Oct;18(10):718-24. doi: 10.1177/08830738030180101301. J Child Neurol. 2003. PMID: 14649556
69 results