{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:50:08Z","timestamp":1792695008276,"version":"4.5.0"},"reference-count":14,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2005,11,1]],"date-time":"2005-11-01T00:00:00Z","timestamp":1130803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2005,11]]},"DOI":"10.1016\/j.braindev.2005.03.018","type":"journal-article","created":{"date-parts":[[2005,9,23]],"date-time":"2005-09-23T09:48:14Z","timestamp":1127468894000},"page":"S69-S71","source":"Crossref","is-referenced-by-count":34,"special_numbering":"S1","title":["Clinical profile of a male with Rett syndrome"],"prefix":"10.1016","volume":"27","author":[{"given":"Sarojini S.","family":"Budden","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather C.","family":"Dorsey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert D.","family":"Steiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2005.03.018_bib1","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP-2 encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Natl Genet"},{"key":"10.1016\/j.braindev.2005.03.018_bib2","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1177\/088307389801300507","article-title":"Neonatal encephalopathy in two boys in families with recurrent Rett syndrome","volume":"13","author":"Schanen","year":"1998","journal-title":"J Child Neurol"},{"key":"10.1016\/j.braindev.2005.03.018_bib3","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0387-7604(12)80172-0","article-title":"The Rett syndrome in males","volume":"12","author":"Philipart","year":"1990","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2005.03.018_bib4","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/ana.410230432","article-title":"Diagnostic criteria for Rett syndrome","volume":"23","year":"1988","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2005.03.018_bib5","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/0887-8994(94)90082-5","article-title":"Rett variants: a suggested model for inclusion criteria","volume":"11","author":"Hagberg","year":"1994","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.braindev.2005.03.018_bib6","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1177\/08830738030180100801","article-title":"Clinical variability in Rett syndrome","volume":"18","author":"Naidu","year":"2003","journal-title":"J Child Neurol"},{"key":"10.1016\/j.braindev.2005.03.018_bib7","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/S0887-8994(98)00150-7","article-title":"Male Rett syndrome variant: application of diagnostic criteria","volume":"20","author":"Jan","year":"1999","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.braindev.2005.03.018_bib8","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1086\/303078","article-title":"A mutation in the Rett syndrome gene, MECP-2, causes X-linked mental retardation and progressive spasticity in males","volume":"67","author":"Meloni","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2005.03.018_bib9","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/S1090-3798(02)00134-4","article-title":"Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP-2)","volume":"7","author":"Moog","year":"2003","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.braindev.2005.03.018_bib10","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1177\/088307380201700105","article-title":"Rett syndrome: clinical manifestations in males with MECP-2 mutations","volume":"17","author":"Zeev","year":"2002","journal-title":"J Child Neurol"},{"key":"10.1016\/j.braindev.2005.03.018_bib11","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1093\/hmg\/9.7.1119","article-title":"Long-read sequence analysis of MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location","volume":"9","author":"Cheadle","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2005.03.018_bib12","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1093\/hmg\/9.9.1369","article-title":"Rett syndrome:analysis of MECP2 and clinical characterization of 31 patients","volume":"9","author":"Huppke","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2005.03.018_bib13","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1007\/s001090000155","article-title":"Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females","volume":"78","author":"Vacca","year":"2001","journal-title":"J Mol Med"},{"key":"10.1016\/j.braindev.2005.03.018_bib14","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1136\/jmg.37.8.608","article-title":"Mutation analysis of methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome","volume":"37","author":"Obata","year":"2000","journal-title":"J Med Genet"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760405001324?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760405001324?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,21]],"date-time":"2019-01-21T23:26:56Z","timestamp":1548113216000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760405001324"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11]]},"references-count":14,"alternative-id":["S0387760405001324"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2005.03.018","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2005,11]]}}}