{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T23:39:22Z","timestamp":1786405162277,"version":"build-2736575974"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"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":[[2002,1]]},"DOI":"10.1038\/sj.ejhg.5200761","type":"journal-article","created":{"date-parts":[[2002,9,5]],"date-time":"2002-09-05T18:26:18Z","timestamp":1031250378000},"page":"86-89","source":"Crossref","is-referenced-by-count":29,"title":["Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling"],"prefix":"10.1038","volume":"10","author":[{"given":"Anne","family":"Moncla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arlette","family":"Kpebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Missirian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josette","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Villard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2002,2,28]]},"reference":[{"key":"BF5200761_CR1","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1038\/13810","volume":"23","author":"RE Amir","year":"1999","unstructured":"Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi H . Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat Genet 1999 23: 185\u2013188","journal-title":"Nat Genet"},{"key":"BF5200761_CR2","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1086\/302690","volume":"65","author":"M Wan","year":"1999","unstructured":"Wan M, Lee SSJ, Zhang X et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots Am J Hum Genet 1999 65: 1520\u20131529","journal-title":"Am J Hum Genet"},{"key":"BF5200761_CR3","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1016\/S0140-6736(00)02661-1","volume":"356","author":"J Clayton-Smith","year":"2000","unstructured":"Clayton-Smith J, Watson P, Ramsden S, Black GC . Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males Lancet 2000 356: 830\u2013832","journal-title":"Lancet"},{"key":"BF5200761_CR4","doi-asserted-by":"publisher","first-page":"982","DOI":"10.1086\/303078","volume":"67","author":"I Meloni","year":"2000","unstructured":"Meloni I, Bruttini M, Longo I et al. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males Am J Hum Genet 2000 67: 982\u2013985","journal-title":"Am J Hum Genet"},{"key":"BF5200761_CR5","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/S0014-5793(00)01994-3","volume":"481","author":"A Orrico","year":"2000","unstructured":"Orrico A, Lam C, Galli L et al. MECP2 mutation in male patients with non-specific X-linked mental retardation FEBS Lett 2000 481: 285\u2013288","journal-title":"FEBS Lett"},{"key":"BF5200761_CR6","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1212\/WNL.55.8.1188","volume":"55","author":"L Villard","year":"2000","unstructured":"Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M . Two affected boys in a Rett syndrome family: clinical and molecular findings Neurology 2000 55: 1188\u20131193","journal-title":"Neurology"},{"key":"BF5200761_CR7","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1093\/hmg\/10.9.941","volume":"10","author":"P Couvert","year":"2001","unstructured":"Couvert P, Bienvenu T, Aquaviva C et al. MECP2 is highly mutated in X-linked mental retardation Hum Mol Genet 2001 10: 941\u2013946","journal-title":"Hum Mol Genet"},{"key":"BF5200761_CR8","doi-asserted-by":"publisher","first-page":"1486","DOI":"10.1212\/WNL.56.11.1486","volume":"56","author":"K Hoffbuhr","year":"2001","unstructured":"Hoffbuhr K, Devaney JM, LaFleur B et al. MeCP2 mutations in children with and without the phenotype of Rett syndrome Neurology 2001 56: 1486\u20131495","journal-title":"Neurology"},{"key":"BF5200761_CR9","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1136\/jmg.38.3.171","volume":"38","author":"B Imessaoudene","year":"2001","unstructured":"Imessaoudene B, Bonnefont JP, Royer G et al. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male J Med Genet 2001 38: 171\u2013174","journal-title":"J Med Genet"},{"key":"BF5200761_CR10","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1177\/088307380101600505","volume":"16","author":"H Leonard","year":"2001","unstructured":"Leonard H, Silberstein J, Falk R et al. Occurrence of Rett syndrome in boys J Child Neurol 2001 16: 333\u2013338","journal-title":"J Child Neurol"},{"key":"BF5200761_CR11","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1016\/0092-8674(92)90610-O","volume":"69","author":"JD Lewis","year":"1992","unstructured":"Lewis JD, Meehan RR, Henzel WJ et al. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA Cell 1992 69: 905\u2013914","journal-title":"Cell"},{"key":"BF5200761_CR12","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1038\/30764","volume":"393","author":"X Nan","year":"1998","unstructured":"Nan X, Ng HH, Johnson CA et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex Nature 1998 393: 386\u2013389","journal-title":"Nature"},{"key":"BF5200761_CR13","doi-asserted-by":"publisher","first-page":"7008","DOI":"10.1021\/bi990224y","volume":"38","author":"SP Chandler","year":"1999","unstructured":"Chandler SP, Guschin D, Landsberger N, Wolffe AP . The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA Biochemistry 1999 38: 7008\u20137018","journal-title":"Biochemistry"},{"key":"BF5200761_CR14","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1016\/S0887-8994(98)00150-7","volume":"20","author":"MM Jan","year":"1999","unstructured":"Jan MM, Dooley JM, Gordon KE . Male Rett syndrome variant: application of diagnostic criteria Pediatr Neurol 1999 20: 238\u2013240","journal-title":"Pediatr Neurol"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5200761","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200761.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200761.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:27:53Z","timestamp":1684373273000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5200761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,1]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,1]]}},"alternative-id":["BF5200761"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5200761","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,1]]}}}