{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:42:05Z","timestamp":1790196125811,"version":"4.1.0"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"name":"waiver","award":["waiver granted"],"award-info":[{"award-number":["waiver granted"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Endocr Disord"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1186\/s12902-015-0076-4","type":"journal-article","created":{"date-parts":[[2015,12,15]],"date-time":"2015-12-15T00:31:50Z","timestamp":1450139510000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature"],"prefix":"10.1186","volume":"15","author":[{"given":"Mirjana","family":"Kocova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Kochova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Sukarova-Angelovska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,12,15]]},"reference":[{"key":"76_CR1","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1542\/peds.2007-3204","volume":"123","author":"VC Williams","year":"2009","unstructured":"Williams VC, Lucas J, Babcock MA, GButmann DH, Koef B, Maria L. Neurofibromatosis Type 1 Revisited. Pediatrics. 2009;123:124\u201333.","journal-title":"Pediatrics"},{"key":"76_CR2","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1517\/17530059.2010.494660","volume":"4","author":"M Upadhyaya","year":"2010","unstructured":"Upadhyaya M. Neurofibromatisis type 1: diagnosis and recent advances. Expert Opin Med Diagn. 2010;4:307\u201322.","journal-title":"Expert Opin Med Diagn"},{"key":"76_CR3","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s00439-002-0871-7","volume":"112","author":"J Szudek","year":"2003","unstructured":"Szudek J, Evans DG, Friedman JM. Patterns of associations of clinical features in neurofibromatosis 1 (NF1). Hum Genet. 2003;112:289\u201397.","journal-title":"Hum Genet"},{"key":"76_CR4","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/gepi.1129","volume":"23","author":"J Szudek","year":"2002","unstructured":"Szudek J, Joe H, Friedman JM. Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). Genet Epidemiol. 2002;23:150\u201364.","journal-title":"Genet Epidemiol"},{"key":"76_CR5","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1001\/archneur.1988.00520290115023","volume":"45","author":"Neurofibromatosis","year":"1988","unstructured":"Neurofibromatosis. Conference statement. NIH Consensus Development Conference. Arch Neurol. 1988;45:575\u20138.","journal-title":"Arch Neurol"},{"key":"76_CR6","doi-asserted-by":"crossref","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, et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics. 1991;11:931\u201340.","journal-title":"Genomics"},{"key":"76_CR7","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, Kucukceylan N, et al. 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. 2000;66:790\u2013818.","journal-title":"Am J Hum Genet"},{"key":"76_CR8","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1177\/088307380201700804","volume":"17","author":"D Viskochil","year":"2002","unstructured":"Viskochil D. Genetics of neurofibromatosis 1 and the NF1 gene. J Child Neurol. 2002;17:562\u201370.","journal-title":"J Child Neurol"},{"key":"76_CR9","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, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95\u00a0% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15:541\u201355.","journal-title":"Hum Mutat"},{"key":"76_CR10","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/0092-8674(90)90149-9","volume":"63","author":"GF Xu","year":"1990","unstructured":"Xu GF, Lin B, Tanaka K, Dunn D, Wood D, Gesteland R, et al. The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell. 1990;63:835\u201341.","journal-title":"Cell"},{"key":"76_CR11","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1093\/hmg\/2.6.645","volume":"2","author":"A Bernards","year":"1993","unstructured":"Bernards A, Snijders AJ, Hannigan GE, Murthy AE, Gusella JF. Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments. Hum Mol Genet. 1993;2:645\u201350.","journal-title":"Hum Mol Genet"},{"key":"76_CR12","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1126\/science.276.5313.791","volume":"276","author":"GE Hannigan","year":"1997","unstructured":"The I, Hannigan GE, Cowley GS, Reginald S, Zhong Y, Gusella JF, et al. Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science. 1997;276:791\u20134.","journal-title":"Science"},{"key":"76_CR13","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, et al. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet. 2003;40:e82.","journal-title":"J Med Genet"},{"key":"76_CR14","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/humu.9039","volume":"20","author":"P Origone","year":"2002","unstructured":"Origone P, De Luca A, Bellini C, Buccino A, Mingarelli R, Costabel S, et al. Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients. Hum Mutat. 2002;20:74\u20135.","journal-title":"Hum Mutat"},{"key":"76_CR15","doi-asserted-by":"crossref","first-page":"e109","DOI":"10.1136\/jmg.40.10.e109","volume":"40","author":"B Castle","year":"2003","unstructured":"Castle B, Baser ME, Huson SM, Cooper DN, Upadhyaya M. Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J Med Genet. 2003;40:e109.","journal-title":"J Med Genet"},{"key":"76_CR16","first-page":"1555","volume":"6","author":"T Nishi","year":"1991","unstructured":"Nishi T, Lee PS, Oka K, Levin VA, Tanase S, Morino Y, et al. Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. Oncogene. 1991;6:1555\u20139.","journal-title":"Oncogene"},{"key":"76_CR17","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1002\/(SICI)1097-0142(19970601)79:11<2125::AID-CNCR9>3.0.CO;2-N","volume":"79","author":"ME Zoller","year":"1997","unstructured":"Zoller ME, Rembeck B, Oden A, Samuelsson M, Angervall L. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer. 1997;79:2125\u201331.","journal-title":"Cancer"},{"key":"76_CR18","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/S0002-9440(10)63992-2","volume":"158","author":"D Muir","year":"2001","unstructured":"Muir D, Neubauer D, Lim IT, Yachnis AT, Wallace MR. Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells. Am J Pathol. 2001;158:501\u201313.","journal-title":"Am J Pathol"},{"issue":"3","key":"76_CR19","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/S0022-3476(95)70449-3","volume":"126","author":"R Habiby","year":"1995","unstructured":"Habiby R, Silverman B, Listernick R, Charrow J. Precocious puberty in children with neurofibromatosis type 1. J Pediatrics. 1995;126(3):364\u20137.","journal-title":"J Pediatrics"},{"issue":"Suppl 2","key":"76_CR20","first-page":"289","volume":"16","author":"R Viridis","year":"2003","unstructured":"Viridis R, Street ME, Bandello MA, Tripodi C, Donadio A, Villani AR, et al. Growth and pubertal disorders in neurofibromatosis type 1. J Pediatr Endocrinol Metab. 2003;16 Suppl 2:289\u201392.","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"10","key":"76_CR21","doi-asserted-by":"crossref","first-page":"3787","DOI":"10.1210\/jc.2015-2028","volume":"100","author":"HW Gan","year":"2015","unstructured":"Gan HW, Phipps K, Aquilina K, Gaze MN, Hayward R, Spoudeas HA. Neuroendocrine morbidity after pediatric optic gliomas: a longitudinal analysis of 166 children over 30 years. J Clin Endocrinol Metab. 2015;100(10):3787\u201399.","journal-title":"J Clin Endocrinol Metab"},{"key":"76_CR22","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1007\/s00417-002-0502-y","volume":"240","author":"C Gerth","year":"2002","unstructured":"Gerth C, Andrassi-Darida M, Bock M, Preising MN, Weber BH, Lorenz B. Phenotypes of 16 Stargardt macular dystrophy\/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Graefes Arch Clin Exp Ophthalmol. 2002;240:628\u201338.","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"76_CR23","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1007\/s00381-013-2352-9","volume":"30","author":"S Ben-Salem","year":"2014","unstructured":"Ben-Salem S, Al-Shamsi AM, Ali BR, Al-Gazali L. The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. Childs Nerv Syst. 2014;30:1183\u20139.","journal-title":"Childs Nerv Syst"},{"key":"76_CR24","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1136\/jmg.2010.081760","volume":"48","author":"S Sharif","year":"2011","unstructured":"Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, et al. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype\u2013phenotype correlations. J Med Genet. 2011;48:256\u201360.","journal-title":"J Med Genet"},{"key":"76_CR25","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jaapos.2009.11.020","volume":"14","author":"L Segal","year":"2010","unstructured":"Segal L, Darvish-Zargar M, Dilenge ME, Ortenberg J, Polomeno RC. Optic pathway gliomas in patients with neurofibromatosis type 1: follow-up of 44 patients. J AAPOS. 2010;14:155\u20138.","journal-title":"J AAPOS"},{"key":"76_CR26","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1093\/hmg\/9.7.1059","volume":"9","author":"JL Rutkowski","year":"2000","unstructured":"Rutkowski JL, Wu K, Gutmann DH, Boyer PJ, Legius E. Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. Hum Mol Genet. 2000;9:1059\u201366.","journal-title":"Hum Mol Genet"},{"key":"76_CR27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s11060-012-0944-y","volume":"110","author":"RA Avery","year":"2012","unstructured":"Avery RA, Ferner RE, Listernick R, Fisher MJ, Gutmann DH, Liu GT. Visual acuity in children with low grade gliomas of the visual pathway: implications for patient care and clinical research. J Neurooncol. 2012;110:1\u20137.","journal-title":"J Neurooncol"},{"key":"76_CR28","unstructured":"Graff JM, Coombs JM, Pramanik S. Neurofibromatosis Type 1 - Optic Nerve Glioma: 8-year-old white female with acute awareness of complete vision loss., OS. EyeRounds.org. May 15, 2005; Available from: http:\/\/www.EyeRounds.org\/cases\/38-NeurofibromatosisOpticNerveGlioma.htm . Accessed 2014"},{"issue":"21 Suppl1","key":"76_CR29","doi-asserted-by":"crossref","first-page":"S15","DOI":"10.1212\/01.wnl.0000435745.95155.b8","volume":"18","author":"MJ Fisher","year":"2013","unstructured":"Fisher MJ, Avery RA, Allen JC, Ardern-Holmes SL, Bilaniuk LT, Ferner RF, et al. Functional outcome measures for NF1 associated optic pathway glioma clinical trials. Neurology. 2013;18(21 Suppl1):S15\u201324.","journal-title":"Neurology"},{"key":"76_CR30","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1093\/neuonc\/nos076","volume":"14","author":"MJ Fisher","year":"2012","unstructured":"Fisher MJ, Loguidice M, Gutmann DH, Listernick R, Ferner RE, Ullrich NJ, et al. Visual outcomes in children with neurofibromatosis type 1 - associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. Neuro Oncol. 2012;14:790\u20137.","journal-title":"Neuro Oncol"},{"key":"76_CR31","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1515\/JPEM.2000.13.S1.841","volume":"13","author":"R Virdis","year":"2000","unstructured":"Virdis R, Sigorini M, Laiolo A, Lorenzetti E, Street ME, Villani AR, et al. Neurofibromatosis type 1 and precocious puberty. J Pediatr Endocrinol Metab. 2000;13:841\u20134.","journal-title":"J Pediatr Endocrinol Metab"},{"key":"76_CR32","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1086\/519562","volume":"81","author":"O Maertens","year":"2007","unstructured":"Maertens O, De Schepper S, Vandesimpele J, Brems H, Heyns I, Janssens S, et al. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet. 2007;81:243.","journal-title":"Am J Hum Genet"}],"container-title":["BMC Endocrine Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12902-015-0076-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,12]],"date-time":"2020-09-12T17:40:06Z","timestamp":1599932406000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.biomedcentral.com\/1472-6823\/15\/82"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["76"],"URL":"https:\/\/doi.org\/10.1186\/s12902-015-0076-4","relation":{},"ISSN":["1472-6823"],"issn-type":[{"value":"1472-6823","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12]]},"article-number":"82"}}