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Page 1
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.
Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Elefteriou F, et al. Among authors: peltonen j. Am J Med Genet A. 2009 Oct;149A(10):2327-38. doi: 10.1002/ajmg.a.33045. Am J Med Genet A. 2009. PMID: 19764036 Review.
Back to the future: proceedings from the 2010 NF Conference.
Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North KN, Packer RJ, Parada LF, Peltonen J, Ramesh V, Reilly KM, Risner JW, Schorry EK, Upadhyaya M, Viskochil DH, Zhu Y, Hunter-Schaedle K, Giancotti FG. Huson SM, et al. Among authors: peltonen j. Am J Med Genet A. 2011 Feb;155A(2):307-21. doi: 10.1002/ajmg.a.33804. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271647 Free PMC article.
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M. Rauen KA, et al. Among authors: peltonen j. Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793. Epub 2014 Nov 12. Am J Med Genet A. 2015. PMID: 25393061 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. Among authors: peltonen s. 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. 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.
Speech characteristics in neurofibromatosis type 1.
Alivuotila L, Hakokari J, Visnapuu V, Korpijaakko-Huuhka AM, Aaltonen O, Happonen RP, Peltonen S, Peltonen J. Alivuotila L, et al. Among authors: peltonen s, peltonen j. Am J Med Genet A. 2010 Jan;152A(1):42-51. doi: 10.1002/ajmg.a.33178. Am J Med Genet A. 2010. PMID: 20034087
The pathoetiology of neurofibromatosis 1.
Jouhilahti EM, Peltonen S, Heape AM, Peltonen J. Jouhilahti EM, et al. Among authors: peltonen s, peltonen j. Am J Pathol. 2011 May;178(5):1932-9. doi: 10.1016/j.ajpath.2010.12.056. Epub 2011 Mar 31. Am J Pathol. 2011. PMID: 21457932 Free PMC article. Review.
Neurofibromatosis type 1 of the child increases birth weight.
Leppävirta J, Kallionpää RA, Uusitalo E, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S. Leppävirta J, et al. Among authors: peltonen s, peltonen j. Am J Med Genet A. 2019 Jul;179(7):1173-1183. doi: 10.1002/ajmg.a.61161. Epub 2019 Apr 24. Am J Med Genet A. 2019. PMID: 31016862 Free PMC article.
520 results