{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T10:58:53Z","timestamp":1774868333647,"version":"3.50.1"},"reference-count":57,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2014,1,11]],"date-time":"2014-01-11T00:00:00Z","timestamp":1389398400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Childs Nerv Syst"],"published-print":{"date-parts":[[2014,7]]},"DOI":"10.1007\/s00381-013-2352-9","type":"journal-article","created":{"date-parts":[[2014,1,10]],"date-time":"2014-01-10T14:58:37Z","timestamp":1389365917000},"page":"1183-1189","source":"Crossref","is-referenced-by-count":7,"title":["The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE"],"prefix":"10.1007","volume":"30","author":[{"given":"Salma","family":"Ben-Salem","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aisha M.","family":"Al-Shamsi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bassam R.","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihadh","family":"Al-Gazali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,1,11]]},"reference":[{"key":"2352_CR1","volume-title":"Rubin's pathology: clinicopathologic foundation of medicine","author":"R Raphael","year":"2008","unstructured":"Raphael R, Strayer DS (2008) Rubin's pathology: clinicopathologic foundation of medicine. Wolters Kluwer Health: Lippincot Williams & Wilkins, Baltimore"},{"key":"2352_CR2","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1126\/science.3107130","volume":"236","author":"D Barker","year":"1987","unstructured":"Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey J, Baty B, Kivlin J (1987) Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236:1100\u20131102","journal-title":"Science"},{"key":"2352_CR3","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/322644a0","volume":"322","author":"BR Seizinger","year":"1986","unstructured":"Seizinger BR, Martuza RL, Gusella JF (1986) Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 322:644\u2013647","journal-title":"Nature"},{"key":"2352_CR4","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1093\/oxfordjournals.aje.a010118","volume":"151","author":"SA Rasmussen","year":"2000","unstructured":"Rasmussen SA, Friedman JM (2000) NF1 gene and neurofibromatosis 1. Am J Epidemiol 151:33\u201340","journal-title":"Am J Epidemiol"},{"key":"2352_CR5","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1517\/17530059.2010.494660","volume":"4","author":"M Upadhyaya","year":"2010","unstructured":"Upadhyaya M (2010) Neurofibromatosis type 1: diagnosis and recent advances. Expert Opin Med Diagn 4:307\u2013322","journal-title":"Expert Opin Med Diagn"},{"key":"2352_CR6","doi-asserted-by":"crossref","first-page":"1552","DOI":"10.1016\/S0140-6736(03)13166-2","volume":"361","author":"RM Reynolds","year":"2003","unstructured":"Reynolds RM, Browning GG, Nawroz I, Campbell IW (2003) Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1. Lancet 361:1552\u20131554","journal-title":"Lancet"},{"key":"2352_CR7","doi-asserted-by":"crossref","unstructured":"(1988) Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 45: 575\u2013578","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"2352_CR8","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1001\/archderm.1982.01650200045014","volume":"118","author":"W Westerhof","year":"1982","unstructured":"Westerhof W, Konrad K (1982) Blue-red macules and pseudoatrophic macules: additional cutaneous signs in neurofibromatosis. Arch Dermatol 118:577\u2013581","journal-title":"Arch Dermatol"},{"key":"2352_CR9","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1111\/j.1525-1470.2009.00892.x","volume":"26","author":"CS Chiu","year":"2009","unstructured":"Chiu CS, Wang JD, Yen CY, Chen YJ, Shen JL (2009) Pseudoatrophic macules associated with neurofibromatosis-1. Pediatr Dermatol 26:231\u2013232","journal-title":"Pediatr Dermatol"},{"key":"2352_CR10","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1086\/302809","volume":"66","author":"R Fahsold","year":"2000","unstructured":"Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, K\u00fcc\u00fckceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, N\u00fcrnberg P (2000) Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet 66:790\u2013818","journal-title":"Am J Hum Genet"},{"key":"2352_CR11","volume-title":"Neurofibromatosis: a handbook for families, patients and health care professionals","author":"BR Korf","year":"2005","unstructured":"Korf BR, Rubenstein AE (2005) Neurofibromatosis: a handbook for families, patients and health care professionals. Thieme, New York"},{"key":"2352_CR12","first-page":"284","volume":"42","author":"VM Riccardi","year":"1988","unstructured":"Riccardi VM, Lewis RA (1988) Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. Am J Hum Genet 42:284\u2013289","journal-title":"Am J Hum Genet"},{"key":"2352_CR13","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1177\/088307380201700806","volume":"17","author":"BR Korf","year":"2002","unstructured":"Korf BR (2002) Clinical features and pathobiology of neurofibromatosis 1. J Child Neurol 17:573\u2013577, discussion 602\u2013574, 646\u2013551","journal-title":"J Child Neurol"},{"key":"2352_CR14","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/B978-0-444-52891-9.00039-7","volume":"111","author":"BR Korf","year":"2013","unstructured":"Korf BR (2013) Neurofibromatosis. Handb Clin Neurol 111:333\u2013340","journal-title":"Handb Clin Neurol"},{"key":"2352_CR15","doi-asserted-by":"crossref","first-page":"842","DOI":"10.7326\/0003-4819-144-11-200606060-00010","volume":"144","author":"A Theos","year":"2006","unstructured":"Theos A, Korf BR, Physicians ACo, Society AP (2006) Pathophysiology of neurofibromatosis type 1. Ann Intern Med 144:842\u2013849","journal-title":"Ann Intern Med"},{"key":"2352_CR16","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1590\/S0100-879X2005000900020","volume":"38","author":"AB Trov\u00f3-Marqui","year":"2005","unstructured":"Trov\u00f3-Marqui AB, Goloni-Bertollo EM, Val\u00e9rio NI, Pavarino-Bertelli EC, Muniz MP, Teixeira MF, Antonio JR, Tajara EH (2005) High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1. Braz J Med Biol Res 38:1441\u20131447","journal-title":"Braz J Med Biol Res"},{"key":"2352_CR17","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.2006.045906","volume":"44","author":"RE Ferner","year":"2007","unstructured":"Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44:81\u201388","journal-title":"J Med Genet"},{"key":"2352_CR18","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJM199706123362404","volume":"336","author":"L Side","year":"1997","unstructured":"Side L, Taylor B, Cayouette M, Conner E, Thompson P, Luce M, Shannon K (1997) Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N Engl J Med 336:1713\u20131720","journal-title":"N Engl J Med"},{"key":"2352_CR19","doi-asserted-by":"crossref","first-page":"320","DOI":"10.3324\/haematol.2009.010355","volume":"95","author":"D Steinemann","year":"2010","unstructured":"Steinemann D, Arning L, Praulich I, Stuhrmann M, Hasle H, Stary J, Schlegelberger B, Niemeyer CM, Flotho C (2010) Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1. Haematologica 95:320\u2013323","journal-title":"Haematologica"},{"key":"2352_CR20","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1093\/jnen\/60.9.917","volume":"60","author":"L Kluwe","year":"2001","unstructured":"Kluwe L, Hagel C, Tatagiba M, Thomas S, Stavrou D, Ostertag H, von Deimling A, Mautner VF (2001) Loss of NF1 alleles distinguish sporadic from NF1-associated pilocytic astrocytomas. J Neuropathol Exp Neurol 60:917\u2013920","journal-title":"J Neuropathol Exp Neurol"},{"key":"2352_CR21","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1038\/ng1194-218","volume":"8","author":"RA Heim","year":"1994","unstructured":"Heim RA, Silverman LM, Farber RA, Kam-Morgan LN, Luce MC (1994) Screening for truncated NF1 proteins. Nat Genet 8:218\u2013219","journal-title":"Nat Genet"},{"key":"2352_CR22","first-page":"33","volume":"11","author":"C Gug","year":"2010","unstructured":"Gug C, Anghel A, Tamas L, Seclaman E, Willems P (2010) Neurofibromatosis type 1\u2014molecular testing and clinical presentation of two cases. Annals of the \u201cAlaxendru Iaon Cuza\u201d University SectIIa. Genet Mol Biol 11:33\u201338","journal-title":"Genet Mol Biol"},{"key":"2352_CR23","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s10689-006-9001-3","volume":"6","author":"S Griffiths","year":"2007","unstructured":"Griffiths S, Thompson P, Frayling I, Upadhyaya M (2007) Molecular diagnosis of neurofibromatosis type 1: 2\u00a0years experience. Fam Cancer 6:21\u201334","journal-title":"Fam Cancer"},{"key":"2352_CR24","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1002\/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N","volume":"15","author":"LM Messiaen","year":"2000","unstructured":"Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15:541\u2013555","journal-title":"Hum Mutat"},{"key":"2352_CR25","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073\u20131081","journal-title":"Nat Protoc"},{"key":"2352_CR26","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, R\u00f6delsperger C, Schuelke M, Seelow D (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575\u2013576","journal-title":"Nat Methods"},{"key":"2352_CR27","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248\u2013249","journal-title":"Nat Methods"},{"key":"2352_CR28","doi-asserted-by":"crossref","first-page":"e46688","DOI":"10.1371\/journal.pone.0046688","volume":"7","author":"Y Choi","year":"2012","unstructured":"Choi Y, Sims GE, Murphy S, Miller JR, Chan AP (2012) Predicting the functional effect of amino acid substitutions and indels. PLoS One 7:e46688","journal-title":"PLoS One"},{"key":"2352_CR29","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","volume":"40","author":"NL Sim","year":"2012","unstructured":"Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC (2012) SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 40:W452\u2013457","journal-title":"Nucleic Acids Res"},{"key":"2352_CR30","doi-asserted-by":"crossref","unstructured":"Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet Chapter 7: Unit7.20","DOI":"10.1002\/0471142905.hg0720s76"},{"issue":"Pt 6","key":"2352_CR31","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1093\/brain\/111.6.1355","volume":"111","author":"SM Huson","year":"1988","unstructured":"Huson SM, Harper PS, Compston DA (1988) Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 111(Pt 6):1355\u20131381","journal-title":"Brain"},{"key":"2352_CR32","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.a.33139","volume":"152A","author":"DG Evans","year":"2010","unstructured":"Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F (2010) Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 152A:327\u2013332","journal-title":"Am J Med Genet A"},{"key":"2352_CR33","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1056\/NEJM199411243312102","volume":"331","author":"C L\u00e1zaro","year":"1994","unstructured":"L\u00e1zaro C, Ravella A, Gaona A, Volpini V, Estivill X (1994) Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 331:1403\u20131407","journal-title":"N Engl J Med"},{"key":"2352_CR34","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1038\/343558a0","volume":"343","author":"D Jadayel","year":"1990","unstructured":"Jadayel D, Fain P, Upadhyaya M, Ponder MA, Huson SM, Carey J, Fryer A, Mathew CG, Barker DF, Ponder BA (1990) Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature 343:558\u2013559","journal-title":"Nature"},{"key":"2352_CR35","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/BF00197259","volume":"88","author":"K Stephens","year":"1992","unstructured":"Stephens K, Kayes L, Riccardi VM, Rising M, Sybert VP, Pagon RA (1992) Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet 88:279\u2013282","journal-title":"Hum Genet"},{"key":"2352_CR36","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1007\/s004390050287","volume":"98","author":"C L\u00e1zaro","year":"1996","unstructured":"L\u00e1zaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, Volpini V, Estivill X (1996) Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet 98:696\u2013699","journal-title":"Hum Genet"},{"key":"2352_CR37","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1007\/s004390050746","volume":"102","author":"M Upadhyaya","year":"1998","unstructured":"Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder BA, Krawczak M, Cooper DN (1998) Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet 102:591\u2013597","journal-title":"Hum Genet"},{"key":"2352_CR38","doi-asserted-by":"crossref","first-page":"2768","DOI":"10.1093\/hmg\/ddp212","volume":"18","author":"A Sabbagh","year":"2009","unstructured":"Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P, Network motNF (2009) Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet 18:2768\u20132778","journal-title":"Hum Mol Genet"},{"key":"2352_CR39","doi-asserted-by":"crossref","first-page":"e82","DOI":"10.1136\/jmg.40.6.e82","volume":"40","author":"E Ars","year":"2003","unstructured":"Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, L\u00e1zaro C (2003) Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet 40:e82","journal-title":"J Med Genet"},{"key":"2352_CR40","doi-asserted-by":"crossref","first-page":"2784","DOI":"10.1210\/jc.2006-2833","volume":"92","author":"B Bausch","year":"2007","unstructured":"Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pf\u00e4ffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP, Group E-APRS (2007) Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab 92:2784\u20132792","journal-title":"J Clin Endocrinol Metab"},{"key":"2352_CR41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.2006.00639.x","volume":"70","author":"AB Trov\u00f3-Marqui","year":"2006","unstructured":"Trov\u00f3-Marqui AB, Tajara EH (2006) Neurofibromin: a general outlook. Clin Genet 70:1\u201313","journal-title":"Clin Genet"},{"key":"2352_CR42","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1038\/ng0296-144","volume":"12","author":"G Bollag","year":"1996","unstructured":"Bollag G, Clapp DW, Shih S, Adler F, Zhang YY, Thompson P, Lange BJ, Freedman MH, McCormick F, Jacks T, Shannon K (1996) Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. Nat Genet 12:144\u2013148","journal-title":"Nat Genet"},{"key":"2352_CR43","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/0014-5793(96)00137-8","volume":"382","author":"I Izawa","year":"1996","unstructured":"Izawa I, Tamaki N, Saya H (1996) Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase. FEBS Lett 382:53\u201359","journal-title":"FEBS Lett"},{"key":"2352_CR44","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/BF01233074","volume":"19","author":"PE Gregory","year":"1993","unstructured":"Gregory PE, Gutmann DH, Mitchell A, Park S, Boguski M, Jacks T, Wood DL, Jove R, Collins FS (1993) Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules. Somat Cell Mol Genet 19:265\u2013274","journal-title":"Somat Cell Mol Genet"},{"key":"2352_CR45","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/j.bbalip.2007.04.002","volume":"1771","author":"CJ Mousley","year":"2007","unstructured":"Mousley CJ, Tyeryar KR, Vincent-Pope P, Bankaitis VA (2007) The Sec14-superfamily and the regulatory interface between phospholipid metabolism and membrane trafficking. Biochim Biophys Acta 1771:727\u2013736","journal-title":"Biochim Biophys Acta"},{"key":"2352_CR46","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1093\/hmg\/ddl023","volume":"15","author":"F Hannan","year":"2006","unstructured":"Hannan F, Ho I, Tong JJ, Zhu Y, Nurnberg P, Zhong Y (2006) Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. Hum Mol Genet 15:1087\u20131098","journal-title":"Hum Mol Genet"},{"key":"2352_CR47","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1002\/pro.5560050419","volume":"5","author":"TM Gray","year":"1996","unstructured":"Gray TM, Arnoys EJ, Blankespoor S, Born T, Jagar R, Everman R, Plowman D, Stair A, Zhang D (1996) Destabilizing effect of proline substitutions in two helical regions of T4 lysozyme: leucine 66 to proline and leucine 91 to proline. Protein Sci 5:742\u2013751","journal-title":"Protein Sci"},{"key":"2352_CR48","doi-asserted-by":"crossref","first-page":"9399","DOI":"10.1074\/jbc.M708206200","volume":"283","author":"S Patrakitkomjorn","year":"2008","unstructured":"Patrakitkomjorn S, Kobayashi D, Morikawa T, Wilson MM, Tsubota N, Irie A, Ozawa T, Aoki M, Arimura N, Kaibuchi K, Saya H, Araki N (2008) Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2. J Biol Chem 283:9399\u20139413","journal-title":"J Biol Chem"},{"key":"2352_CR49","doi-asserted-by":"crossref","first-page":"26958","DOI":"10.1074\/jbc.M209413200","volume":"278","author":"S Yunoue","year":"2003","unstructured":"Yunoue S, Tokuo H, Fukunaga K, Feng L, Ozawa T, Nishi T, Kikuchi A, Hattori S, Kuratsu J, Saya H, Araki N (2003) Neurofibromatosis type I tumor suppressor neurofibromin regulates neuronal differentiation via its GTPase-activating protein function toward Ras. J Biol Chem 278:26958\u201326969","journal-title":"J Biol Chem"},{"key":"2352_CR50","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1182\/blood-2008-03-144436","volume":"113","author":"B Yin","year":"2009","unstructured":"Yin B, Delwel R, Valk PJ, Wallace MR, Loh ML, Shannon KM, Largaespada DA (2009) A retroviral mutagenesis screen reveals strong cooperation between Bcl11a overexpression and loss of the Nf1 tumor suppressor gene. Blood 113:1075\u20131085","journal-title":"Blood"},{"key":"2352_CR51","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1182\/blood-2006-04-015040","volume":"108","author":"IT Chan","year":"2006","unstructured":"Chan IT, Kutok JL, Williams IR, Cohen S, Moore S, Shigematsu H, Ley TJ, Akashi K, Le Beau MM, Gilliland DG (2006) Oncogenic K-ras cooperates with PML-RAR alpha to induce an acute promyelocytic leukemia-like disease. Blood 108:1708\u20131715","journal-title":"Blood"},{"key":"2352_CR52","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1086\/302381","volume":"64","author":"AC Jones","year":"1999","unstructured":"Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP (1999) Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 64:1305\u20131315","journal-title":"Am J Hum Genet"},{"key":"2352_CR53","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.7545954","volume":"266","author":"Y Miki","year":"1994","unstructured":"Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66\u201371","journal-title":"Science"},{"key":"2352_CR54","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1002\/(SICI)1098-2264(199804)21:4<290::AID-GCC2>3.0.CO;2-U","volume":"21","author":"T Suzuki","year":"1998","unstructured":"Suzuki T, Ishioka C, Kato S, Mitachi Y, Shimodaira H, Sakayori M, Shimada A, Asamura M, Kanamaru R (1998) Detection of APC mutations by a yeast-based protein truncation test (YPTT). Genes Chromosomes Cancer 21:290\u2013297","journal-title":"Genes Chromosomes Cancer"},{"key":"2352_CR55","doi-asserted-by":"crossref","first-page":"107","DOI":"10.3346\/jkms.2006.21.1.107","volume":"21","author":"SY Jeong","year":"2006","unstructured":"Jeong SY, Park SJ, Kim HJ (2006) The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. J Korean Med Sci 21:107\u2013112","journal-title":"J Korean Med Sci"},{"key":"2352_CR56","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1002\/humu.9245","volume":"23","author":"A Luca De","year":"2004","unstructured":"De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, Ciavarella A, Dottorini T, Porciello R, Giustini S, Calvieri S, Dallapiccola B (2004) Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. Hum Mutat 23:629","journal-title":"Hum Mutat"},{"key":"2352_CR57","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1101\/gr.849004","volume":"14","author":"GE Crooks","year":"2004","unstructured":"Crooks GE, Hon G, Chandonia JM, Brenner SE (2004) WebLogo: a sequence logo generator. Genome Res 14:1188\u20131190","journal-title":"Genome Res"}],"container-title":["Child's Nervous System"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00381-013-2352-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00381-013-2352-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00381-013-2352-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T08:12:37Z","timestamp":1565079157000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00381-013-2352-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,11]]},"references-count":57,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["2352"],"URL":"https:\/\/doi.org\/10.1007\/s00381-013-2352-9","relation":{},"ISSN":["0256-7040","1433-0350"],"issn-type":[{"value":"0256-7040","type":"print"},{"value":"1433-0350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,11]]}}}