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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. Among authors: schorry e. 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.
Ullrich-Turner syndrome and neurofibromatosis-1.
Schorry EK, Lovell AM, Milatovich A, Saal HM. Schorry EK, et al. Am J Med Genet. 1996 Dec 30;66(4):423-5. doi: 10.1002/(SICI)1096-8628(19961230)66:4<423::AID-AJMG6>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8989459
Thoracic tumors in children with neurofibromatosis-1.
Schorry EK, Crawford AH, Egelhoff JC, Lovell AM, Saal HM. Schorry EK, et al. Am J Med Genet. 1997 Sep 19;74(5):533-7. doi: 10.1002/(sici)1096-8628(19970919)74:5<533::aid-ajmg16>3.0.co;2-d. Am J Med Genet. 1997. PMID: 9342207
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. 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: schorry ek. 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.
Lethal presentation of neurofibromatosis and Noonan syndrome.
Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: schorry ek. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923
84 results