{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T02:20:18Z","timestamp":1785464418758,"version":"3.56.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,1,24]],"date-time":"2015-01-24T00:00:00Z","timestamp":1422057600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1186\/s12920-015-0076-2","type":"journal-article","created":{"date-parts":[[2015,1,23]],"date-time":"2015-01-23T19:25:40Z","timestamp":1422041140000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb"],"prefix":"10.1186","volume":"8","author":[{"name":"on behalf of the NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Castellanos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Bielsa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Carrato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imma","family":"Rosas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ares","family":"Solanes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Hostalot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilio","family":"Amilibia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Prades","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesc","family":"Roca-Ribas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conxi","family":"L\u00e1zaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Blanco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduard","family":"Serra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,1,24]]},"reference":[{"key":"76_CR1","doi-asserted-by":"publisher","first-page":"957","DOI":"10.1016\/B978-0-444-52902-2.00054-0","volume":"115","author":"SK Lloyd","year":"2013","unstructured":"Lloyd SK, Evans DG. Neurofibromatosis type 2 (NF2): diagnosis and management. Handb Clin Neurol. 2013;115:957\u201367.","journal-title":"Handb Clin Neurol"},{"issue":"3","key":"76_CR2","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1002\/ajmg.a.35760","volume":"161A","author":"SR Plotkin","year":"2013","unstructured":"Plotkin SR, Blakeley JO, Evans DG, Hanemann CO, Hulsebos TJ, Hunter-Schaedle K, et al. Update from the 2011 International Schwannomatosis Workshop: from genetics to diagnostic criteria. Am J Med Genet A. 2013;161A(3):405\u201316.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"76_CR3","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1086\/513207","volume":"80","author":"TJ Hulsebos","year":"2007","unstructured":"Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Germline mutation of INI1\/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 2007;80(4):805\u201310.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"76_CR4","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1111\/j.1399-0004.2008.01060.x","volume":"74","author":"C Boyd","year":"2008","unstructured":"Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR. Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet. 2008;74(4):358\u201366.","journal-title":"Clin Genet"},{"issue":"6","key":"76_CR5","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1136\/jmg.2007.056499","volume":"45","author":"KD Hadfield","year":"2008","unstructured":"Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, et al. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008;45(6):332\u20139.","journal-title":"J Med Genet"},{"issue":"2","key":"76_CR6","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1002\/humu.20679","volume":"29","author":"R Sestini","year":"2008","unstructured":"Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat. 2008;29(2):227\u201331.","journal-title":"Hum Mutat"},{"key":"76_CR7","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/1471-2377-11-9","volume":"11","author":"G Rousseau","year":"2011","unstructured":"Rousseau G, Noguchi T, Bourdon V, Sobol H, Olschwang S. SMARCB1\/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. BMC Neurol. 2011;11:9.","journal-title":"BMC Neurol"},{"issue":"2","key":"76_CR8","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/s10048-012-0319-8","volume":"13","author":"MJ Smith","year":"2012","unstructured":"Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, et al. Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics. 2012;13(2):141\u20135.","journal-title":"Neurogenetics"},{"issue":"2","key":"76_CR9","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1038\/ng.2855","volume":"46","author":"A Piotrowski","year":"2014","unstructured":"Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, et al. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2014;46(2):182\u20137.","journal-title":"Nat Genet"},{"issue":"7","key":"76_CR10","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1136\/jmg.2006.047753","volume":"44","author":"DG Evans","year":"2007","unstructured":"Evans DG, Ramsden RT, Shenton A, Gokhale C, Bowers NL, Huson SM, et al. Mosaicism in neurofibromatosis type 2: an update of risk based on uni\/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet. 2007;44(7):424\u20138.","journal-title":"J Med Genet"},{"issue":"11","key":"76_CR11","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1136\/jmg.2009.070342","volume":"46","author":"DG Evans","year":"2009","unstructured":"Evans DG, Wallace A. An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2). J Med Genet. 2009;46(11):792.","journal-title":"J Med Genet"},{"issue":"4","key":"76_CR12","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1111\/j.1750-3639.2008.00155.x","volume":"18","author":"S Patil","year":"2008","unstructured":"Patil S, Perry A, Maccollin M, Dong S, Betensky RA, Yeh TH, et al. Immunohistochemical analysis supports a role for INI1\/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol. 2008;18(4):517\u20139.","journal-title":"Brain Pathol"},{"issue":"5","key":"76_CR13","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1111\/j.1399-0004.2011.01816.x","volume":"82","author":"DG Evans","year":"2011","unstructured":"Evans DG, Raymond FL, Barwell JG, Halliday D. Genetic testing and screening of individuals at risk of NF2. Clin Genet. 2011;82(5):416\u201324.","journal-title":"Clin Genet"},{"issue":"6","key":"76_CR14","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1086\/301633","volume":"61","author":"LB Jacoby","year":"1997","unstructured":"Jacoby LB, Jones D, Davis K, Kronn D, Short MP, Gusella J, et al. Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet. 1997;61(6):1293\u2013302.","journal-title":"Am J Hum Genet"},{"issue":"47","key":"76_CR15","doi-asserted-by":"publisher","first-page":"6216","DOI":"10.1038\/onc.2010.363","volume":"29","author":"KD Hadfield","year":"2010","unstructured":"Hadfield KD, Smith MJ, Urquhart JE, Wallace AJ, Bowers NL, King AT, et al. Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas. Oncogene. 2010;29(47):6216\u201321.","journal-title":"Oncogene"},{"issue":"2","key":"76_CR16","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1136\/jnnp.2005.067017","volume":"77","author":"AJ Murray","year":"2006","unstructured":"Murray AJ, Hughes TA, Neal JW, Howard E, Evans DG, Harper PS. A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2? J Neurol Neurosurg Psychiatry. 2006;77(2):269\u201371.","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"76_CR17","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1046\/j.1365-2133.2003.05249.x","volume":"148","author":"M Leverkus","year":"2003","unstructured":"Leverkus M, Kluwe L, Roll EM, Becker G, Brocker EB, Mautner VF, et al. Multiple unilateral schwannomas: segmental neurofibromatosis type 2 or schwannomatosis? Br J Dermatol. 2003;148(4):804\u20139.","journal-title":"Br J Dermatol"},{"issue":"9","key":"76_CR18","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.1001\/archneur.60.9.1317","volume":"60","author":"DL Kaufman","year":"2003","unstructured":"Kaufman DL, Heinrich BS, Willett C, Perry A, Finseth F, Sobel RA, et al. Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol. 2003;60(9):1317\u201320.","journal-title":"Arch Neurol"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12920-015-0076-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-015-0076-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-015-0076-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-015-0076-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T19:50:47Z","timestamp":1717703447000},"score":1,"resource":{"primary":{"URL":"http:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-015-0076-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,24]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["76"],"URL":"https:\/\/doi.org\/10.1186\/s12920-015-0076-2","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,1,24]]},"article-number":"2"}}