{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T22:41:45Z","timestamp":1791412905709,"version":"4.3.3"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2015,1,29]],"date-time":"2015-01-29T00:00:00Z","timestamp":1422489600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1038\/jhg.2015.6","type":"journal-article","created":{"date-parts":[[2015,1,29]],"date-time":"2015-01-29T07:14:36Z","timestamp":1422515676000},"page":"221-224","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["NF1 single and multi-exons copy number variations in neurofibromatosis type 1"],"prefix":"10.1038","volume":"60","author":[{"name":"the members of the NF France Network","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Apolline","family":"Imbard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Pasmant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Sabbagh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armelle","family":"Luscan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Soares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Goussard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Blanch\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Laurendeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salah","family":"Ferkal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vidaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Pinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bellanne-Chantelot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Vidaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Wolkenstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9atrice","family":"Parfait","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,1,29]]},"reference":[{"key":"BFjhg20156_CR1","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1111\/j.1749-6632.1986.tb48061.x","volume":"486","author":"JC Carey","year":"1986","unstructured":"Carey, J. C ., Baty, B. J ., Johnson, J. P ., Morrison, T ., Skolnick, M . & Kivlin, J . The genetic aspects of neurofibromatosis. Ann. NY Acad. Sci. 486, 45\u201356 (1986).","journal-title":"Ann. NY Acad. Sci"},{"key":"BFjhg20156_CR2","doi-asserted-by":"publisher","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 . 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. 66, 790\u2013818 (2000).","journal-title":"Am. J. Hum. Genet"},{"key":"BFjhg20156_CR3","doi-asserted-by":"publisher","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, L. M ., Callens, T ., Mortier, G ., Beysen, D ., Vandenbroucke, I ., Van Roy, N . et al. 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 (2000).","journal-title":"Hum. Mutat"},{"key":"BFjhg20156_CR4","doi-asserted-by":"publisher","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. 40, e82 (2003).","journal-title":"J. Med. Genet"},{"key":"BFjhg20156_CR5","doi-asserted-by":"publisher","first-page":"e48","DOI":"10.1136\/jmg.2003.011890","volume":"41","author":"C Mattocks","year":"2004","unstructured":"Mattocks, C ., Baralle, D ., Tarpey, P ., ffrench-Constant, C ., Bobrow, M . & Whittaker, J . Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. J. Med. Genet. 41, e48 (2004).","journal-title":"J. Med. Genet"},{"key":"BFjhg20156_CR6","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1002\/gcc.20289","volume":"45","author":"K Wimmer","year":"2006","unstructured":"Wimmer, K ., Yao, S ., Claes, K ., Kehrer-Sawatzki, H ., Tinschert, S ., De Raedt, T . et al. Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer 45, 265\u2013276 (2006).","journal-title":"Genes Chromosomes Cancer"},{"key":"BFjhg20156_CR7","doi-asserted-by":"publisher","first-page":"E173","DOI":"10.1002\/humu.20826","volume":"29","author":"E Pros","year":"2008","unstructured":"Pros, E ., G\u00f3mez, C ., Mart\u00edn, T ., F\u00e1bregas, P ., Serra, E . & L\u00e1zaro, C . Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. Hum. Mutat. 29, E173\u2013E193 (2008).","journal-title":"Hum. Mutat"},{"key":"BFjhg20156_CR8","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1136\/jmg.2009.075937","volume":"47","author":"VF Mautner","year":"2008","unstructured":"Mautner, V. F ., Kluwe, L ., Friedrich, R. E ., Roehl, A. C ., Bammert, S ., H\u00f6gel, J . et al. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4\u2009Mb type-1 NF1 deletions. J. Med. Genet. 47, 623\u2013630 (2008).","journal-title":"J. Med. Genet"},{"key":"BFjhg20156_CR9","doi-asserted-by":"publisher","first-page":"E1506","DOI":"10.1002\/humu.21271","volume":"31","author":"E Pasmant","year":"2010","unstructured":"Pasmant, E ., Sabbagh, A ., Spurlock, G ., Laurendeau, I ., Grillo, E . & Hamel, M. J ., members of the NF France Network NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum. Mutat. 31, E1506\u2013E1518 (2010).","journal-title":"Hum. Mutat"},{"key":"BFjhg20156_CR10","doi-asserted-by":"publisher","first-page":"1288","DOI":"10.1086\/374821","volume":"72","author":"T De Raedt","year":"2003","unstructured":"De Raedt, T ., Brems, H ., Wolkenstein, P ., Vidaud, D ., Pilotti, S ., Perrone, F . et al. Elevated risk for MPNST in NF1 microdeletion patients. Am. J. Hum. Genet. 72, 1288\u20131292 (2003).","journal-title":"Am. J. Hum. Genet"},{"key":"BFjhg20156_CR11","first-page":"305","volume":"53","author":"DF Easton","year":"1993","unstructured":"Easton, D. F ., Ponder, M. A ., Huson, S. M . & Ponder, B. A . An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am. J. Hum. Genet. 53, 305\u2013313 (1993).","journal-title":"Am. J. Hum. Genet"},{"key":"BFjhg20156_CR12","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. E ., Huson, S. M ., Cooper, D. N . & Upadhyaya, M . Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J. Med. Genet. 40, e109 (2003).","journal-title":"J. Med. Genet"},{"key":"BFjhg20156_CR13","doi-asserted-by":"publisher","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 . et al. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum. Mol. Genet. 18, 2768\u20132778 (2009).","journal-title":"Hum. Mol. Genet"},{"key":"BFjhg20156_CR14","doi-asserted-by":"publisher","first-page":"1510","DOI":"10.1002\/humu.22392","volume":"34","author":"A Sabbagh","year":"2013","unstructured":"Sabbagh, A ., Pasmant, E ., Imbard, A ., Luscan, A ., Soares, M ., Blanch\u00e9, H . et al. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum. Mutat. 34, 1510\u20131518 (2013).","journal-title":"Hum. Mutat"},{"key":"BFjhg20156_CR15","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1086\/510781","volume":"80","author":"M Upadhyaya","year":"2007","unstructured":"Upadhyaya, M ., Huson, S. M ., Davies, M ., Thomas, N ., Chuzhanova, N ., Giovannini, S . et al. An absence of cutaneous neurofibromas associated with a 3-\u2009bp inframe deletion in exon 17 of the NF1 gene (c.2970\u20132972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am. J. Hum. Genet. 80, 140\u2013151 (2007).","journal-title":"Am. J. Hum. Genet"},{"key":"BFjhg20156_CR16","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1002\/humu.9245","volume":"23","author":"A De Luca","year":"2004","unstructured":"De Luca, A ., Schirinzi, A ., Buccino, A ., Bottillo, I ., Sinibaldi, L ., Torrente, I . et al. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. Hum. Mutat. 23, 629 (2004).","journal-title":"Hum. Mutat"},{"key":"BFjhg20156_CR17","doi-asserted-by":"publisher","first-page":"800","DOI":"10.1136\/jmg.2007.053785","volume":"44","author":"A De Luca","year":"2007","unstructured":"De Luca, A ., Bottillo, I ., Dasdia, M. C ., Morella, A ., Lanari, V ., Bernardini, L . et al. Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification. J. Med. Genet. 44, 800\u2013808 (2007).","journal-title":"J. Med. Genet"},{"key":"BFjhg20156_CR18","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.jmoldx.2010.09.002","volume":"13","author":"MC Valero","year":"2011","unstructured":"Valero, M. C ., Mart\u00edn, Y ., Hern\u00e1ndez-Imaz, E ., Marina Hern\u00e1ndez, A ., Mele\u00e1n, G ., Valero, A. M . et al. A highly sensitive genetic protocol to detect NF1 mutations. J. Mol. Diagn. 13, 113\u2013122 (2011).","journal-title":"J. Mol. Diagn"},{"key":"BFjhg20156_CR19","doi-asserted-by":"crossref","unstructured":"National Institutes of Health Consensus Development Conference Statement Neurofibromatosis. Arch. Neurol. 45, 575\u2013578 (1988).","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"BFjhg20156_CR20","doi-asserted-by":"publisher","first-page":"524","DOI":"10.2353\/jmoldx.2009.090064","volume":"11","author":"E Pasmant","year":"2009","unstructured":"Pasmant, E ., Sabbagh, A ., Masliah-Planchon, J ., Haddad, V ., Hamel, M. J ., Laurendeau, I . et al. Detection and characterization of NF1 microdeletions by custom high resolution array CGH. J. Mol. Diagn. 11, 524\u2013529 (2009).","journal-title":"J. Mol. Diagn"},{"key":"BFjhg20156_CR21","doi-asserted-by":"crossref","unstructured":"Pasmant, E ., Parfait, B ., Luscan, A ., Goussard, P ., Briand-Suleau, A ., Laurendeau, I . et al. Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? Eur. J. Hum. Genet. (e-pub ahead of print 30 July 2014).","DOI":"10.1038\/ejhg.2014.145"},{"key":"BFjhg20156_CR22","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1093\/jnci\/djr416","volume":"103","author":"E Pasmant","year":"2011","unstructured":"Pasmant, E ., Sabbagh, A ., Masliah-Planchon, J ., Ortonne, N ., Laurendeau, I ., Melin, L . et al. Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1. J. Natl Cancer. Inst. 103, 1713\u20131722 (2011).","journal-title":"J. Natl Cancer. Inst"},{"key":"BFjhg20156_CR23","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1136\/jmedgenet-2012-100978","volume":"49","author":"E Pasmant","year":"2012","unstructured":"Pasmant, E ., Vidaud, M ., Vidaud, D . & Wolkenstein, P . Neurofibromatosis type 1: from genotype to phenotype. J. Med. Genet. 49, 483\u2013489 (2012).","journal-title":"J. Med. Genet"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg20156.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg20156","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg20156.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:34:49Z","timestamp":1684431289000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg20156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,29]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["BFjhg20156"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2015.6","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,1,29]]},"assertion":[{"value":"18 September 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 December 2014","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 December 2014","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2015","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}