{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:07:56Z","timestamp":1761822476197},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2002,5,1]],"date-time":"2002-05-01T00:00:00Z","timestamp":1020211200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2002,5]]},"DOI":"10.1038\/sj.ejhg.5200804","type":"journal-article","created":{"date-parts":[[2002,9,3]],"date-time":"2002-09-03T19:06:19Z","timestamp":1031079979000},"page":"297-302","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders"],"prefix":"10.1038","volume":"10","author":[{"given":"Rafa\u00eblle","family":"Bernard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amandine","family":"Boyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"N\u00e8gre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Perrine","family":"Malzac","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Latour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoon","family":"Vandenberghe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Philip","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"L\u00e9vy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2002,6,18]]},"reference":[{"key":"BF5200804_CR1","first-page":"171","volume":"100","author":"J Meuleman","year":"2000","unstructured":"Meuleman J, Timmerman V, Nelis E, De Jonghe P . Molecular genetics of inherited peripheral neuropathies: who are the actors? Acta Neurol Belg 2000 100: 171\u2013180","journal-title":"Acta Neurol Belg"},{"key":"BF5200804_CR2","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/0092-8674(91)90613-4","volume":"66","author":"JR Lupski","year":"1991","unstructured":"Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A Cell 1991 66: 219\u2013232","journal-title":"Cell"},{"key":"BF5200804_CR3","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1203\/00006450-199902000-00001","volume":"45","author":"JR Lupski","year":"1999","unstructured":"Lupski JR . Charcot-Marie-Tooth polyneuropathy: Duplication, Gene dosage, and Genetic Heterogeneity Pediatric Research 1999 45: 159\u2013165","journal-title":"Pediatric Research"},{"key":"BF5200804_CR4","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1038\/ng0692-166","volume":"1","author":"LJ Valentijn","year":"1992","unstructured":"Valentijn LJ, Bolhuis RA, Zorn I et al. The peripheral myelin genePMP22\/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A Nature Genet 1992 1: 166\u2013170","journal-title":"Nature Genet"},{"key":"BF5200804_CR5","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1038\/ng0396-288","volume":"12","author":"LT Reiter","year":"1996","unstructured":"Reiter LT, Murakami T, Koeuth T et al. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element Nature Genet 1996 12: 288\u2013297","journal-title":"Nature Genet"},{"key":"BF5200804_CR6","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1136\/jmg.32.3.231","volume":"32","author":"C Cudrey","year":"1995","unstructured":"Cudrey C, Chevillard C, Le Paslier D, Vignal A, Passage E, Fontes M . Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis J Med Genet 1995 32: 231\u2013233","journal-title":"J Med Genet"},{"key":"BF5200804_CR7","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1093\/clinchem\/41.8.1105","volume":"41","author":"IP Blair","year":"1995","unstructured":"Blair IP, Kennerson ML, Nicholson GA . Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction Clin Chem 1995 41: 1105\u20131108","journal-title":"Clin Chem"},{"key":"BF5200804_CR8","first-page":"1223","volume":"58","author":"J Lopes","year":"1996","unstructured":"Lopes J, LeGuern E, Gouider R et al. Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditery neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A Am J Hum Genet 1996 58: 1223\u20131230","journal-title":"Am J Hum Genet"},{"key":"BF5200804_CR9","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s004390050330","volume":"99","author":"M Yamamoto","year":"1997","unstructured":"Yamamoto M, Yasuda T, Hayasaka K et al. Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP Hum Genet 1997 99: 151\u2013154","journal-title":"Hum Genet"},{"key":"BF5200804_CR10","first-page":"117","volume":"4","author":"EA Stronach","year":"1999","unstructured":"Stronach EA, Clarck C, Bell C et al. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and Hereditary neuropathy with liability to pressure palsies J Periph Nerv Syst 1999 4: 117\u2013122","journal-title":"J Periph Nerv Syst"},{"key":"BF5200804_CR11","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/sj.ejhg.5200433","volume":"8","author":"R Bernard","year":"2000","unstructured":"Bernard R, Labelle V, Negre P et al. Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A Eur J Hum Genet 2000 8: 229\u2013235","journal-title":"Eur J Hum Genet"},{"key":"BF5200804_CR12","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1002\/ajmg.1320470334","volume":"47","author":"RV Lebo","year":"1993","unstructured":"Lebo RV, Martelli L, Su Y et al. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization Am J Med Genet 1993 47: 441\u2013450","journal-title":"Am J Med Genet"},{"key":"BF5200804_CR13","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1002\/pd.1970150708","volume":"15","author":"R Navon","year":"1995","unstructured":"Navon R, Timmerman V, Lofgren A et al. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques Prenat Diagn 1995 15: 633\u2013640","journal-title":"Prenat Diagn"},{"key":"BF5200804_CR14","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1002\/(SICI)1097-0223(199905)19:5<446::AID-PD566>3.0.CO;2-O","volume":"19","author":"CD Kashork","year":"1999","unstructured":"Kashork CD, Lupski JR, Shaffer LG . Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization Prenat Diagn 1999 19: 446\u2013449","journal-title":"Prenat Diagn"},{"key":"BF5200804_CR15","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1093\/clinchem\/47.5.829","volume":"47","author":"P Latour","year":"2001","unstructured":"Latour P, Boutrand L, L\u00e9vy N et al. Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication Clin Chem 2001 47: 829\u2013837","journal-title":"Clin Chem"},{"key":"BF5200804_CR16","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1093\/clinchem\/47.5.838","volume":"47","author":"JL Badano","year":"2001","unstructured":"Badano JL, Inoue K, Katsanis N, Lupski JR . New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis Clin Chem 2001 47: 838\u2013843","journal-title":"Clin Chem"},{"key":"BF5200804_CR17","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1002\/mus.880180302","volume":"18","author":"V Ionasescu","year":"1995","unstructured":"Ionasescu V . Charcot-Marie-Tooth neuropathies: from clinical descriptions to molecular genetics Muscle and Nerve 1995 18: 267\u2013275","journal-title":"Muscle and Nerve"},{"key":"BF5200804_CR18","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1093\/brain\/120.5.813","volume":"120","author":"N Birouk","year":"1997","unstructured":"Birouk N, Gouider R, Le Guern E et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases Brain 1997 120: 813\u2013823","journal-title":"Brain"},{"key":"BF5200804_CR19","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1111\/j.1749-6632.1999.tb08570.x","volume":"833","author":"CA Garcia","year":"1999","unstructured":"Garcia CA . A clinical review of Charcot-Marie-Tooth Ann NY Acad Sci 1999 833: 69\u201376","journal-title":"Ann NY Acad Sci"},{"key":"BF5200804_CR20","volume-title":"Molecular Cloning: A Laboratory Manual","author":"T Maniatis","year":"1989","unstructured":"Maniatis T . Molecular Cloning: A Laboratory Manual New York: Cold Spring Harbor Laboratory Press 1989"},{"key":"BF5200804_CR21","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1002\/pd.1970040710","volume":"1","author":"TH Bui","year":"1984","unstructured":"Bui TH, Iselius L, Lindsten J . European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures Prenat Diagn 1984 1: 145\u2013162","journal-title":"Prenat Diagn"},{"key":"BF5200804_CR22","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/S0140-6736(00)03614-X","volume":"357","author":"M Dematteis","year":"2001","unstructured":"Dematteis M, Pepin JL, Jeanmart M, Deschaux C, Labarre-Vila A, Levy P . Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study Lancet 2001 357: 267\u2013272","journal-title":"Lancet"},{"key":"BF5200804_CR23","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1136\/jmg.38.5.333","volume":"38","author":"SA impson","year":"2001","unstructured":"impson SA, Harper PS . Prenatal testing for Huntington's disease: experience within the UK 1994-1998 J Med Genet 2001 38: 333\u2013335","journal-title":"J Med Genet"},{"key":"BF5200804_CR24","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1136\/jmg.32.2.97","volume":"32","author":"JL Tolmie","year":"1995","unstructured":"Tolmie JL, Davidson HR, May HM, McIntosh K, Paterson JS, Smith B . The prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993 J Med Genet 1995 32: 97\u2013101","journal-title":"J Med Genet"},{"key":"BF5200804_CR25","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1136\/jmg.37.11.883","volume":"37","author":"LN Lodder","year":"2000","unstructured":"Lodder LN, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Niermeijer MF . Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1\/BRCA2 gene mutation in The Netherlands J Med Genet 2000 37: 883\u2013884","journal-title":"J Med Genet"},{"key":"BF5200804_CR26","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1136\/jmg.37.6.476","volume":"37","author":"M Levy","year":"2000","unstructured":"Levy M, Richard S . Attitudes of von Hippel-Lindau disease patients towards presymptomatic genetic diagnosis in children and prenatal diagnosis J Med Genet 2000 37: 476\u2013478","journal-title":"J Med Genet"},{"key":"BF5200804_CR27","doi-asserted-by":"publisher","first-page":"978","DOI":"10.1093\/molehr\/4.10.978","volume":"4","author":"A De Vos","year":"1998","unstructured":"De Vos A, Sermon K, Van de Velde H et al. Pregnancy after preimplantation genetic diagnosis for Charcot-Marie- Tooth disease type 1A Mol Hum Reprod 1998 4: 978\u2013984","journal-title":"Mol Hum Reprod"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5200804","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200804.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200804.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:28:18Z","timestamp":1684373298000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5200804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002,5]]}},"alternative-id":["BF5200804"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5200804","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,5]]}}}