[[1] Blazo MA, Lewis RA, Chintagumpala MM, Frazier M, Mc-Cluggage C Plon SE. Outcomes of systematic screening for optic pathway tumors in children with neurofibroma-tosis type 1. Am J Med Genet. 2004;127A:224-229.10.1002/ajmg.a.2065015150770]Search in Google Scholar
[[2] Bolcekova A, Nemethova M, Zatkova A Hlinkova K, Pozgayova S, Hlavata A, Kadasi L, Durovcikova D, Gerinec A, Husakova K, Pavlovicova Z, Holobrada M, Kovacs L, Ilencikova D. Clustering of mutations in the 5’ tertile of the NF1 gene in Slovakia patients with optic pathway glioma, Neoplasma. 2013;60 (6):655-65.10.4149/neo_2013_08423906300]Search in Google Scholar
[[3] Brown EW, Riccardi VM, Mawad M, Handel S, Goldman A, Bryan RN. MR imaging of optic pathways in patients with Neurofibromatosis. Am J Neuroradiol. 1987;8:1031-1036.]Search in Google Scholar
[[4] Brzowski AE, Bazan C, Mumma JV, Ryan SG. Spontaneous regression of optic glioma in a patient with neurofibro-matosis, Neurology 1992;42:679-681.10.1212/WNL.42.3.6791549238]Search in Google Scholar
[[5] Czyzyk E, Jozwiak S, Roskowski M, Schwartz RA. Optic pathway gliomas in children with and without neurof-bromatosis type1. J Child Neurol. 2003;18:471-478.10.1177/0883073803018007040112940652]Search in Google Scholar
[[6] De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E. Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet. 2003;72:1288–1292.10.1086/374821118028112660952]Search in Google Scholar
[[7] DeBella K, Szudek J, Friedman JM. Use of the National Institutes of Health criteria for diagnosis of neurofibroma-tosis 1 in children. Pediatrics. 2000;105:608-14.10.1542/peds.105.3.60810699117]Search in Google Scholar
[[8] DeClue JE, Papageorge AG, Fletcher JA, Diehl SR, Ratner N, Vass WC, Lowy DR. Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) Neurofibromatosis. Cell. 1999;69, 265-273.]Search in Google Scholar
[[9] Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumours in Neurofibromatosis 1. J Med Genet 2002;39:311-410.1136/jmg.39.5.311173512212011145]Search in Google Scholar
[[10] Feldmann R, Denecke J, Grenzebach M, Schuierer G, We-glage. Neurofibromatosis type 1: Motor and cognitive function and T2-weighted MRI hyperintensities. J Neurology. 2003; Dec 23;61(12):1725-8.10.1212/01.WNL.0000098881.95854.5F14694037]Search in Google Scholar
[[11] Ferner R, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A. Guidelines for the diagnosis and management of individuals with Neurofibromatosis 1. J Med Genet. 2007;44(2):81-88.10.1136/jmg.2006.045906259806317105749]Search in Google Scholar
[[12] Friedman JM. Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol. 2002. 17:548-54.10.1177/08830738020170080212403552]Search in Google Scholar
[[13] Friedrich RE, Hartmann M, Mautner VF. Malignant peripheral nerve sheath tumors (MPNST) in NF1-afected children. Anticancer Res. 2007;27:1957-60.]Search in Google Scholar
[[14] Gill DS, Hyman SL, Steinberg A, North KN. Age-related fndings on MRI in Neurofibromatosis type 1. Pediatr Ra-diol. 2006;31:1048-1056.10.1007/s00247-006-0267-2]Search in Google Scholar
[[15] Gutmann, D H, Aylsworth A, Carey JC, Korf B, Marks J, Py-eritz RE, Rubenstein A, Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibroma-tosis 1 and Neurofibromatosis 2. JAMA. 1997;278, 51-57.]Search in Google Scholar
[[16] Hsu TR, Wong TT, Chang FC Ho DM, Tang RB, Thien PF, Chang KP. Responsiveness of progressive optic pathway tumors to cisplatin-based chemotherapy in children. Childs Nerv Syst. 2008;24:1457–1461.10.1007/s00381-008-0707-4]Search in Google Scholar
[[17] Hyman SL, Gill DS, Shores EA, Steinberg A, North KN. T2 hyperintensities in children with Neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry. 2007 Oct;78(10):1088-91.10.1136/jnnp.2006.108134]Search in Google Scholar
[[18] Joubilahti EM, Peltonen S, Heape AM, Peltonen J. The pathoetiology of Neurofibromatosis 1, Am J Pathol. 2011; May;178(5):1932-9.10.1016/j.ajpath.2010.12.056]Search in Google Scholar
[[19] Kayes LM, Burke W, Ricardi VM, Bennett R, Ehrlich P, Ru-benstein A, Stephens K. Deletions spanning the neuro-fbromatosis type 1 gene: identifcation of phenotype in fve patients, Am J Hum Genet. 1994;54: 424–436.]Search in Google Scholar
[[20] Kluwe L, Friedrich RE, Peiper M, Friedman J, Mautner VF. Constitutional NF1 mutations in Neurofibromatosis type 1 patients with malignant peripheral nerve sheath tumors. Hum Mutat. 2003;22:420.10.1002/humu.9193]Search in Google Scholar
[[21] Korf BR. Clinical features and pathobiology of neurofibro-matosis 1, J Child Neurol. 2002;17(8):573–577.10.1177/088307380201700806]Search in Google Scholar
[[22] Landau M. and Krafchk BR. The diagnostic value of cafe'-au-lait macules, J Am Acad Dermatol. 1999;40:877-90.10.1016/S0190-9622(99)70075-7]Search in Google Scholar
[[23] Listernick R, Charrow J, Greenwald MJ, Esterly NB. Optic gliomas in children with Neurofibromatosis type 1. J Pe-diatr. 1989;114:788-92.10.1016/S0022-3476(89)80137-4]Search in Google Scholar
[[24] Lopes JR, Munis M P, Soares A, Sanches RA, Goloni-Bertol-lo EM, Pavarino-Bertelli EC, Unidentifed bright objects on brain MRI in children as a diagnostic criterion for neu-rofbromatosis type 1. Pediat Radiol. 2008;38(3):305-310.10.1007/s00247-007-0712-x18231788]Search in Google Scholar
[[25] Lund AM, Skovby F. Optic gliomas in children with neu-rofbromatosis type 1. Eur J of Pediatr. 1991;150: 835-838.10.1007/BF019550021743214]Search in Google Scholar
[[26] Mahoney DH Jr, Cohen ME, Friedman HS, Kepner JL, Gemer L, Langston JW, James HE, Dufner PK, Kun LE. Carboplatin is efective therapy for young children with progressive optic pathway tumors: a Pediatric Oncology Group phase II study, Neuro Oncol. 2000;2:213-220.10.1093/neuonc/2.4.213]Search in Google Scholar
[[27] Martin GA, Viskochil D, Bollag G, McCabe PC, Crosier WJ, Haubruck H, Conroz L, Clark R, OConnell P, Cawthon RM, Innis MA, McCormik F. The GAP-related domain of the Neurofibromatosis type 1 gene product interacts with ras p21. Cell 63, 1990;843-849.10.1016/0092-8674(90)90150-D]Search in Google Scholar
[[28] McGaughran JM, Harris DI, Donnai D, Teare D, MacLeod R, Westerbeek R, Kingston H, Super M, Harris R, Evans DG. A clinical study of type 1 Neurofibromatosis in north west England. J Med Genet. 1999;36:192-6.]Search in Google Scholar
[[29] 2Messiaen L and Wimmer K. Mutation analysis of the NF1 gene by cDNA-based sequencing of the coding region. In Goncalves Cunha K.S., Geller M. (Eds.) Advances in Neuro-fbromatosis Research, Nova Science, Inc., New York 2012; 89–108, ISBN: 978-1-61324-661-0]Search in Google Scholar
[[30] National Institutes of Health Consensus Development Conference Statement: Neurofibromatosis. Bethesda, Md, USA, 13-15 July 1987. Neurofibromatosis 1988;1:172-8.]Search in Google Scholar
[[31] Nemethova M, Bolcekova A, Ilencikova D, Durovcikova D, Hlinkova K, Hlavata A, Kovacs L, Kadasi L, Zatkova A. Thirty-Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identifed in Slovak Patients, Ann Hum Genet. 2013;77(5):364-79.10.1111/ahg.12026]Search in Google Scholar
[[32] North KN, Riccardi V, Samango-Sprouse C, Ferner R, Moore B, Legius E, Ratner N, Denckla MB. Cognitive function and academic performance in Neurofibromatosis 1: Consensus statement from the NF1 cognitive disorders task force. Neurology 1997, 48:1121–1127.10.1212/WNL.48.4.1121]Search in Google Scholar
[[33] Otsuka F, Kawashima T, Imakado S, Usuki Y, Hon-Mura S. Lisch nodules and skin manifestation in Neurofibromato-sis type 1, Arch. Derm. 2001;137:232-233.]Search in Google Scholar
[[34] Parsa CF, Hoyt CS, Lesser RL, Weinstein JM, Strother CM, Muci-Mendoza R, Ramella M, Manor RS, Fletcher WA, Repka MX, Garrity JA, Ebner RN, Monteiro ML, McFadz-ean RM, Rubtsova IV, Hoyt WF. Spontaneous Regression of Optic Gliomas Thirteen Cases Documented by Serial Neuroimaging, Arch Ophthalmol. 2001;119:516–529.]Search in Google Scholar
[[35] Petrák B and Filouš A. Význam vyšetření predního seg-mentu oka pro diagnostiku Neurofibromatosis von Reck-linghausen, Čs. Pediatrie 1998;53,6, 328-331]Search in Google Scholar
[[36] Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, Thakker N, Evans DG. Molecular analysis of individuals with Neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and assessment of genotype-phenotype correlations, J Med Genet. 2011;48:256–260.10.1136/jmg.2010.081760]Search in Google Scholar
[[37] Sharif S, Ferner R, Birch JM, Gillespie JE, Gattamaneni HR, Baser ME, Evans DG. Second primary tumors in neurof-bromatosis 1 patients treated for optic gliomas: substantial risks after radiotherapy, J Clin Oncol. 2006;24:2570– 2575.10.1200/JCO.2005.03.8349]Search in Google Scholar
[[38] Singhal S, Birch JM, Kerr B, LAshford L, Evans DG. Neuro-fbromatosis type 1 and sporadic optic gliomas, Arch Dis Child. 2002;87:65–70.10.1136/adc.87.1.65]Search in Google Scholar
[[39] Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzha-nova N, Giovannini S, Evans DG, Howard E, Kerr B, Grifths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Bar-nicoat A, Li H, Wallace P, Van Biervliet J P, Stevenson D, Vis-kochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. An absence of cutaneous neurofibromas associated with 3-bp inframe deletion in exon 17 of the NF1 gene (c2970-2972 del AAT); evidence of a clinically signifcant NF1 phenotype correlation. Am J Hum Genet. 2007;80: 140–151.10.1086/510781]Search in Google Scholar
[[40] Vraa S, Nielsen OS, Sneppen O, Jurik AG, Jensen OM, Prognostic factors in soft tissue sarcomas: the Aarhus experience, Eur J Cancer. 1998;34(12):1876-82.10.1016/S0959-8049(98)00233-0]Search in Google Scholar
[[41] Yang JC, Baker AR, Sindelar WF, Danforth DN, Topalian SL, DeLaney T, Glatstein E, Steinberg SM, Merino MJ, Rosenberg SA. Randomized prospective study of the beneft of adjuvant radiation therapy in the treatment of soft tissue sarcomas of the extremity, J Clin Oncol. 1998;16(1):197-203.10.1200/JCO.1998.16.1.1979440743]Search in Google Scholar
[[42] Yunoue S, Tokuo H, Fukunaga K, Feng L, Ozawa T, Nishi T, Kikuchi A, Hattori S, Kuratsu J, Saya H, Araki N. Neu-rofbromatosis type I tumor suppressor neurofibromin regulates neuronal diferentiation via its GTPase activating protein function toward Ras. J Biol Chem. 2003;278, 26958–26969.]Search in Google Scholar