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Page 1
Cutaneous neurofibromas: Current clinical and pathologic issues.
Ortonne N, Wolkenstein P, Blakeley JO, Korf B, Plotkin SR, Riccardi VM, Miller DC, Huson S, Peltonen J, Rosenberg A, Carroll SL, Verma SK, Mautner V, Upadhyaya M, Stemmer-Rachamimov A. Ortonne N, et al. Among authors: huson s. Neurology. 2018 Jul 10;91(2 Suppl 1):S5-S13. doi: 10.1212/WNL.0000000000005792. Neurology. 2018. PMID: 29987130 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. Among authors: huson sm. 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: huson sm. 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.
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.
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.
Blakeley JO, Evans DG, Adler J, Brackmann D, Chen R, Ferner RE, Hanemann CO, Harris G, Huson SM, Jacob A, Kalamarides M, Karajannis MA, Korf BR, Mautner VF, McClatchey AI, Miao H, Plotkin SR, Slattery W 3rd, Stemmer-Rachamimov AO, Welling DB, Wen PY, Widemann B, Hunter-Schaedle K, Giovannini M. Blakeley JO, et al. Am J Med Genet A. 2012 Jan;158A(1):24-41. doi: 10.1002/ajmg.a.34359. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140088 Free PMC article.
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. Rauen KA, et al. Among authors: huson sm. Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30908877 Free PMC article.
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: huson sm. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.
172 results