{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:46:49Z","timestamp":1787503609667,"version":"build-2736575974"},"reference-count":51,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genomics"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder with an increased susceptibility to develop both benign and malignant tumors but with a wide spectrum of inter and intrafamilial clinical variability. The establishment of genotype-phenotype associations in NF1 is potentially useful for targeted therapeutic intervention but has generally been unsuccessful, apart from small subsets of molecularly defined patients. The objective of this study was to evaluate the clinical phenotype associated with the specific types of\n                    <jats:italic>NF1<\/jats:italic>\n                    mutation in a retrospectively recorded clinical dataset comprising 149\n                    <jats:italic>NF1<\/jats:italic>\n                    mutation-known individuals from unrelated families. Each patient was assessed for ten NF1-related clinical features, including the number of caf\u00e9-au-lait spots, cutaneous and subcutaneous neurofibromas and the presence\/absence of intertriginous skin freckling, Lisch nodules, plexiform and spinal neurofibromas, optic gliomas, other neoplasms (in particular CNS gliomas, malignant peripheral nerve sheath tumors (MPNSTs), juvenile myelomonocytic leukemia, rhabdomyosarcoma, phaechromocytoma, gastrointestinal stromal tumors, juvenile xanthogranuloma, and lipoma) and evidence of learning difficulties. Gender and age at examination were also recorded. Patients were subcategorized according to their associated\n                    <jats:italic>NF1<\/jats:italic>\n                    germ line mutations: frame shift deletions (52), splice-site mutations (23), nonsense mutations (36), missense mutations (32) and other types of mutation (6). A significant association was apparent between possession of a splice-site mutation and the presence of brain gliomas and MPNSTs (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.006). If confirmed, these findings are likely to be clinically important since up to a third of NF1 patients harbor splice-site mutations. A significant influence of gender was also observed on the number of subcutaneous neurofibromas (females,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.009) and preschool learning difficulties (females,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.022).\n                  <\/jats:p>","DOI":"10.1186\/1479-7364-6-12","type":"journal-article","created":{"date-parts":[[2012,8,13]],"date-time":"2012-08-13T06:15:03Z","timestamp":1344838503000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?"],"prefix":"10.1186","volume":"6","author":[{"given":"Adila","family":"Alkindy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Chuzhanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Usha","family":"Kini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meena","family":"Upadhyaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,8,13]]},"reference":[{"key":"21_CR1","unstructured":"Online Mendelian Inheritance in Man Database - Entry #162200. http:\/\/www.omim.org\/entry\/162200,"},{"key":"21_CR2","volume-title":"Neurofibromatosis Type 1: From Genotype to Phenotype","author":"M Upadhyaya","year":"1998","unstructured":"Upadhyaya M, Cooper DN(E): Neurofibromatosis Type 1: From Genotype to Phenotype. 1998, Oxford: BIOS Publishers"},{"key":"21_CR3","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1086\/510781","volume":"80","author":"M Upadhyaya","year":"2007","unstructured":"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: An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 del AAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007, 80: 140-151. 10.1086\/510781.","journal-title":"Am J Hum Genet"},{"key":"21_CR4","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1517\/17530059.2010.494660","volume":"4","author":"M Upadhyaya","year":"2010","unstructured":"Upadhyaya M: Neurofibromatosis type 1 NF1): diagnosis and recent advances. Exp Opin Med. Diagn. 2010, 4: 307-322. 10.1517\/17530059.2010.494660.","journal-title":"Exp Opin Med. Diagn"},{"key":"21_CR5","doi-asserted-by":"publisher","first-page":"1110","DOI":"10.1086\/320121","volume":"68","author":"SA Rasmussen","year":"2001","unstructured":"Rasmussen SA, Yang Q, Friedman JM: Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001, 68: 1110-1118. 10.1086\/320121.","journal-title":"Am J Hum Genet"},{"key":"21_CR6","doi-asserted-by":"crossref","first-page":"136","DOI":"10.2340\/0001555575136140","volume":"75","author":"M Z\u00f6ller","year":"1995","unstructured":"Z\u00f6ller M, Rembeck B, Akesson HO, Angervall L: Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol. 1995, 75: 136-140.","journal-title":"Acta Derm Venereol"},{"key":"21_CR7","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1038\/sj.bjc.6603227","volume":"95","author":"L Walker","year":"2006","unstructured":"Walker L, Thompson D, Easton D, Ponder B, Ponder M, Frayling I, Baralle D: A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer. 2006, 95: 233-238. 10.1038\/sj.bjc.6603227.","journal-title":"Br J Cancer"},{"key":"21_CR8","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1016\/0888-7543(91)90017-9","volume":"11","author":"DA Marchuk","year":"1991","unstructured":"Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH, Boguski M, Collins FS: cDNA cloning of the type 1 Neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics. 1991, 11: 931-940. 10.1016\/0888-7543(91)90017-9.","journal-title":"Genomics"},{"key":"21_CR9","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1002\/aja.1001950307","volume":"195","author":"MM Daston","year":"1992","unstructured":"Daston MM, Ratner N: Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development. Dev Dyn. 1992, 195: 216-226. 10.1002\/aja.1001950307.","journal-title":"Dev Dyn"},{"key":"21_CR10","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1016\/0092-8674(90)90150-D","volume":"63","author":"G Martin","year":"1990","unstructured":"Martin G, Viskochil D, Bollag G, McCabe PC, Crosier WJ, Haubruck H, Conroy L, Clark R, O\u2019Connell P, Cawthon RM, Innis MA, McCormick F: The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell. 1990, 63: 843-849. 10.1016\/0092-8674(90)90150-D.","journal-title":"Cell"},{"key":"21_CR11","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1016\/S0092-8674(01)00245-8","volume":"104","author":"K Cichowski","year":"2001","unstructured":"Cichowski K, Jacks T: NF1 tumor suppressor gene function: narrowing the GAP. Cell. 2001, 104: 593-604. 10.1016\/S0092-8674(01)00245-8.","journal-title":"Cell"},{"key":"21_CR12","doi-asserted-by":"publisher","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: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007, 44: 81-88. 10.1136\/jmg.2007.049122.","journal-title":"J Med Genet"},{"key":"21_CR13","doi-asserted-by":"publisher","first-page":"e109","DOI":"10.1136\/jmg.40.10.e109","volume":"40","author":"B Castle","year":"2003","unstructured":"Castle B, Baser M, Huson SM, Cooper DN, Upadhyaya M: Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J Med Genet. 2003, 40: e109-10.1136\/jmg.40.10.e109.","journal-title":"J Med Genet"},{"key":"21_CR14","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1136\/jmg.29.10.686","volume":"29","author":"LM Kayes","year":"1992","unstructured":"Kayes LM, Riccardi VM, Burke W, Bennett RL, Stephens K: Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. J Med Genet. 1992, 29: 686-690. 10.1136\/jmg.29.10.686.","journal-title":"J Med Genet"},{"key":"21_CR15","unstructured":"The Human Gene Mutation Database. http:\/www.hgmd.org,"},{"key":"21_CR16","series-title":"Basel:Monogr Hum Genet","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1159\/000126545","volume-title":"Neurofibromatoses: NF1 mutational spectrum","author":"L Messiaen","year":"2008","unstructured":"Messiaen L, Wimmer K: Neurofibromatoses: NF1 mutational spectrum, Basel:Monogr Hum Genet Edited by: Kaufmann D. 2008, 16:, Basel, Karger, 63-77."},{"key":"21_CR17","first-page":"305","volume":"53","author":"DF Easton","year":"1993","unstructured":"Easton DF, Ponder MA, Huson SM, Ponder BA: An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet. 1993, 53: 305-513.","journal-title":"Am J Hum Genet"},{"key":"21_CR18","doi-asserted-by":"publisher","first-page":"2768","DOI":"10.1093\/hmg\/ddp212","volume":"18","author":"A Sabbagh","year":"2009","unstructured":"Sabbagh A, Pasmant E, Laurendeaul Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P, NF France Network: Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet. 2009, 18: 2768-2778. 10.1093\/hmg\/ddp212.","journal-title":"Hum Mol Genet"},{"key":"21_CR19","doi-asserted-by":"publisher","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: Molecular diagnosis of neurofibromatosis type 1: 2 years experience. Fam Cancer. 2007, 6: 21-34. 10.1007\/s10689-006-9001-3.","journal-title":"Fam Cancer"},{"key":"21_CR20","first-page":"172","volume":"1","author":"NIH","year":"1988","unstructured":"NIH: National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13\u201315, 1987. Neurofibromatosis. 1988, 1: 172-178.","journal-title":"Neurofibromatosis"},{"key":"21_CR21","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/GIM.0b013e3181bf15e3","volume":"12","author":"K Jett","year":"2010","unstructured":"Jett K, Friedman JM: Clinical and genetic aspects of neurofibromatosis 1. Genet Med. 2010, 12: 1-11.","journal-title":"Genet Med"},{"key":"21_CR22","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1067\/mhj.2002.122121","volume":"143","author":"MA Tedesco","year":"2002","unstructured":"Tedesco MA, Di Salvo G, Natale F, Pergola V, Calabrese E, Grassia C, Ratti G, Iarussi D, Iacono A, Calabr\u00f2 R, Lama G: The heart in neurofibromatosis type 1: an echocardiographic study. Am Heart J. 2002, 143: 883-888. 10.1067\/mhj.2002.122121.","journal-title":"Am Heart J"},{"key":"21_CR23","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1002\/1096-8628(20001113)95:2<108::AID-AJMG4>3.0.CO;2-0","volume":"95","author":"AE Lin","year":"2000","unstructured":"Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, Armfield Uhas K, Sigorini M, Virdis R, Romano C, Bonioli E, Wolkenstein P, Pivnick EK, Lawrence M, Friedman JM: Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet. 2000, 95: 108-117. 10.1002\/1096-8628(20001113)95:2<108::AID-AJMG4>3.0.CO;2-0.","journal-title":"Am J Med Genet"},{"key":"21_CR24","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1097\/00125817-200205000-00002","volume":"4","author":"JM Friedman","year":"2002","unstructured":"Friedman JM, Arbiser J, Epstein JA, Gutmann DH, Huot SJ, Lin AE, McManus B, Korf BR: Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med. 2002, 4: 105-111. 10.1097\/00125817-200205000-00002.","journal-title":"Genet Med"},{"key":"21_CR25","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1002\/1096-8628(20010422)100:2<95::AID-AJMG1235>3.0.CO;2-T","volume":"100","author":"SJ Hamilton","year":"2001","unstructured":"Hamilton SJ, Allard MF, Friedman JM: Cardiac findings in an individual with neurofibromatosis 1 and sudden death. Am J Med Genet. 2001, 100: 95-99. 10.1002\/1096-8628(20010422)100:2<95::AID-AJMG1235>3.0.CO;2-T.","journal-title":"Am J Med Genet"},{"key":"21_CR26","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1136\/hrt.60.3.247","volume":"60","author":"AP Fitzpatrick","year":"1988","unstructured":"Fitzpatrick AP, Emanuel RW: Familial neurofibromatosis and hypertrophic cardiomyopathy. Br Heart J. 1988, 60: 247-245. 10.1136\/hrt.60.3.247.","journal-title":"Br Heart J"},{"key":"21_CR27","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1016\/S0002-8703(76)80118-4","volume":"92","author":"CM Elliott","year":"1976","unstructured":"Elliott CM, Tajik AJ, Giuliani ER, Gordon H: Idiopathic hypertrophic subaortic stenosis associated with cutaneous neurofibromatosis: report of a case. Am Heart J. 1976, 92: 368-372. 10.1016\/S0002-8703(76)80118-4.","journal-title":"Am Heart J"},{"key":"21_CR28","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/S0248-8663(84)80039-9","volume":"5","author":"RN Sachs","year":"1984","unstructured":"Sachs RN, Buschauer-Bonnet C, Kemeny JL, Amouroux J, Lanfranchi J: Cardiomyocardiopathie hypertrophique et maladie de von Recklinghausen. Rev Med Interne. 1984, 5: 154-156. 10.1016\/S0248-8663(84)80039-9.","journal-title":"Rev Med Interne"},{"key":"21_CR29","doi-asserted-by":"publisher","first-page":"1360","DOI":"10.1002\/ajmg.a.33996","volume":"155A","author":"CE Prada","year":"2011","unstructured":"Prada CE, Zarate YA, Hagenbuch S, Lovell AM, Saal HM, Schorry EK, Hopkin RJ: Lethal presentation of neurofibromatosis and Noonan syndrome. Am J Med Genet A. 2011, 155A: 1360-1366.","journal-title":"Am J Med Genet A"},{"key":"21_CR30","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1016\/j.gde.2009.04.001","volume":"19","author":"WE Tidyman","year":"2009","unstructured":"Tidyman WE, Rauen KA: The RASopathies: developmental syndromes of Ras\/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009, 19: 230-236. 10.1016\/j.gde.2009.04.001.","journal-title":"Curr Opin Genet Dev"},{"key":"21_CR31","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1159\/000243782","volume":"72","author":"M Zenker","year":"2009","unstructured":"Zenker M: Genetic and pathogenetic aspects of Noonan syndrome and related disorders. Horm Res. 2009, 72: 57-63.","journal-title":"Horm Res"},{"key":"21_CR32","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/S0828-282X(06)70903-5","volume":"22","author":"S Zhongjie","year":"2006","unstructured":"Zhongjie S: Overview of recent advances in molecular cardiology. Can J Cardiol. 2006, 22: 235-240. 10.1016\/S0828-282X(06)70903-5.","journal-title":"Can J Cardiol"},{"key":"21_CR33","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1093\/hmg\/9.2.237","volume":"9","author":"E Ars","year":"2000","unstructured":"Ars E, Serra E, Garc\u00eda J, Kruyer H, Gaona A, L\u00e1zaro C, Estivill X: Mutations affecting mRNA splice site are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet. 2000, 9: 237-247. 10.1093\/hmg\/9.2.237.","journal-title":"Hum Mol Genet"},{"key":"21_CR34","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/1750-1172-6-18","volume":"6","author":"TA Duong","year":"2011","unstructured":"Duong TA, Sbidian E, Valeyrie-Allanore L: Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980\u20132006 in France. Orphanet J Rare Dis. 2011, 6: 18-10.1186\/1750-1172-6-18.","journal-title":"Orphanet J Rare Dis"},{"key":"21_CR35","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1172\/JCI46399","volume":"121","author":"BD Gelb","year":"2011","unstructured":"Gelb BD, Tartaglia M: RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it. J Clin Invest. 2011, 121: 844-847. 10.1172\/JCI46399.","journal-title":"J Clin Invest"},{"key":"21_CR36","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1161\/CIRCRESAHA.109.201509","volume":"105","author":"J Xu","year":"2009","unstructured":"Xu J, Ismat FA, Wang T, Lu MM, Antonucci N, Epstein JA: Cardiomyocyte-specific loss of neurofibromin promotes cardiac hypertrophy and dysfunction. Circ Res. 2009, 105: 304-311. 10.1161\/CIRCRESAHA.109.201509.","journal-title":"Circ Res"},{"key":"21_CR37","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1038\/ejhg.2011.113","volume":"19","author":"DG Evans","year":"2011","unstructured":"Evans DG, O\u2019Hara C, Wilding A, Ingham SL, Howard E, Dawson J, Moran A, Scott-Kitching V, Holt F, Huson SM: Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989. Eur J Hum Genet. 2011, 19: 1187-1191. 10.1038\/ejhg.2011.113.","journal-title":"Eur J Hum Genet"},{"key":"21_CR38","doi-asserted-by":"publisher","first-page":"937","DOI":"10.2741\/3727","volume":"16","author":"M Upadhyaya","year":"2011","unstructured":"Upadhyaya M: Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumours. Front Biosci. 2011, 16: 937-951. 10.2741\/3727.","journal-title":"Front Biosci"},{"key":"21_CR39","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1136\/jmg.2007.049346","volume":"44","author":"S Sharif","year":"2007","unstructured":"Sharif S, Moran A, Huson SM, Iddenden R, Shenton A, Howard E, Evans DG: Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet. 2007, 44: 481-484. 10.1136\/jmg.2007.049346.","journal-title":"J Med Genet"},{"key":"21_CR40","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1007\/BF03347397","volume":"30","author":"C Erem","year":"2007","unstructured":"Erem C, Onder EH, Ukin\u00e7 K, Hacihasanoglu A, Alhan E, Cobano\u011flu U, Ko\u00e7ak M, Erd\u00f6l H: Neurofibromatosis type 1 associated with pheochromocytoma: a case report and a review of the literature. J Endocrinol Invest. 2007, 30: 59-64.","journal-title":"J Endocrinol Invest"},{"key":"21_CR41","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1007\/s00403-010-1090-z","volume":"303","author":"L Zinnamosca","year":"2011","unstructured":"Zinnamosca L, Petramala L, Cotesta D, Marinelli C, Schina M, Cianci R, Giustini S, Sciomer S, Anastasi E, Calvieri S, De Toma G, Letizia C: Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects. Arch Dermatol Res. 2011, 303: 317-325. 10.1007\/s00403-010-1090-z.","journal-title":"Arch Dermatol Res"},{"key":"21_CR42","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1111\/j.1365-2362.2009.02174.x","volume":"39","author":"E Gkaliagkousi","year":"2009","unstructured":"Gkaliagkousi E, Erlic Z, Petidis K, Semertzidis P, Doumas M, Zamboulis C, Neumann HP, Douma S: Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasias 2A. Eur J Clin Invest. 2009, 39: 828-832. 10.1111\/j.1365-2362.2009.02174.x.","journal-title":"Eur J Clin Invest"},{"key":"21_CR43","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1097\/01.pas.0000176433.81079.bd","volume":"30","author":"M Miettinen","year":"2006","unstructured":"Miettinen M, Fetsch JF, Sobin LH, Lasota J: Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol. 2006, 30: 90-96. 10.1097\/01.pas.0000176433.81079.bd.","journal-title":"Am J Surg Pathol"},{"key":"21_CR44","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1002\/jso.21945","volume":"104","author":"M Miettinen","year":"2011","unstructured":"Miettinen M, Lasota J: Histopathology of gastrointestinal stromal tumor. J Surg Oncol. 2011, 104: 865-873. 10.1002\/jso.21945.","journal-title":"J Surg Oncol"},{"key":"21_CR45","doi-asserted-by":"publisher","first-page":"7393","DOI":"10.1158\/0008-5472.CAN-09-1752","volume":"69","author":"H Brems","year":"2009","unstructured":"Brems H, Park C, Maertens O, Pemov A, Messiaen L, Upadhyaya M, Claes K, Beert E, Peeters K, Mautner V, Sloan JL, Yao L, Lee CC, Sciot R, De Smet L, Legius E, Stewart DR: Glomus tumors in neurofibromatosis type 1: genetic, functional and clinical evidence of a novel association. Cancer Res. 2009, 69: 7393-7401. 10.1158\/0008-5472.CAN-09-1752.","journal-title":"Cancer Res"},{"key":"21_CR46","doi-asserted-by":"publisher","first-page":"1885","DOI":"10.1007\/s00381-011-1425-x","volume":"27","author":"E Cecen","year":"2011","unstructured":"Cecen E, Ince D, Uysal KM, Ozer E, Cetingoz R, Ozguven AA, Cakmakci H, Sarialioglu F, Olgun N: Soft tissue sarcomas and central nervous system tumors in children with neurofibromatosis type 1. Childs Nerv Syst. 2011, 27: 1885-1893. 10.1007\/s00381-011-1425-x.","journal-title":"Childs Nerv Syst"},{"key":"21_CR47","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1002\/ajmg.a.30008","volume":"127A","author":"C Oktenli","year":"2004","unstructured":"Oktenli C, Gul D, Deveci MS, Saglam M, Upadhyaya M, Thompson P, Consoli C, Kocar IH, Pilarski R, Zhou XP, Eng C: Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney. Am J Med Genet A. 2004, 127A: 298-301. 10.1002\/ajmg.a.30008.","journal-title":"Am J Med Genet A"},{"key":"21_CR48","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1002\/pbc.22297","volume":"54","author":"M Raygada","year":"2010","unstructured":"Raygada M, Arthur D, Wayne A, Rennert OM, Toretsky JA, Stratakis CA: Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia. Pediatr Blood Cancer. 2010, 54: 173-175. 10.1002\/pbc.22297.","journal-title":"Pediatr Blood Cancer"},{"key":"21_CR49","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1203\/PDR.0b013e31817445b8","volume":"64","author":"AWU Overdiek","year":"2008","unstructured":"Overdiek AWU, Mayatepek E, Rosenbaum T: Schwann cells from human neurofibromas show increased proliferation rates under the influence of progesterone. Pediatr Res. 2008, 64: 40-43. 10.1203\/PDR.0b013e31817445b8.","journal-title":"Pediatr Res"},{"key":"21_CR50","doi-asserted-by":"publisher","first-page":"1624","DOI":"10.1002\/ajmg.a.32301","volume":"146A","author":"TM Roth","year":"2008","unstructured":"Roth TM, Petty EM, Barald KF: The role of steroid hormones in the NF1 phenotype: focus on pregnancy. Am J Med Genet A. 2008, 146A: 1624-1633. 10.1002\/ajmg.a.32301.","journal-title":"Am J Med Genet A"},{"key":"21_CR51","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1002\/ajmg.a.30394","volume":"132","author":"K Khosrotehrani","year":"2005","unstructured":"Khosrotehrani K, Bastji-Garin S, Riccardi VM, Birch P, Friedman JM, Wolkenstein P: Subcutaneous neurofibromas are associated with mortality in neurofibromatosis type one: a cohort study of 703 patients. Am J Med Genet. 2005, 132: 49-53.","journal-title":"Am J Med Genet"}],"container-title":["Human Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1479-7364-6-12.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,25]],"date-time":"2023-06-25T04:56:11Z","timestamp":1687668971000},"score":1,"resource":{"primary":{"URL":"https:\/\/humgenomics.biomedcentral.com\/articles\/10.1186\/1479-7364-6-12"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,13]]},"references-count":51,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["21"],"URL":"https:\/\/doi.org\/10.1186\/1479-7364-6-12","relation":{},"ISSN":["1479-7364"],"issn-type":[{"value":"1479-7364","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,13]]},"assertion":[{"value":"3 July 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 August 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 August 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"12"}}