{"id":2132,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?p=2132"},"modified":"2023-01-13T11:50:45","modified_gmt":"2023-01-13T11:50:45","slug":"%ce%bd%ce%ad%ce%b1-%ce%b4%ce%b7%ce%bc%ce%bf%cf%83%ce%af%ce%b5%cf%85%cf%83%ce%b7-%cf%84%ce%bf%cf%85-daniel-ta-%ce%b3%ce%b9%ce%b1-%cf%84%ce%b1-mds","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/el\/%ce%bd%ce%ad%ce%b1-%ce%b4%ce%b7%ce%bc%ce%bf%cf%83%ce%af%ce%b5%cf%85%cf%83%ce%b7-%cf%84%ce%bf%cf%85-daniel-ta-%ce%b3%ce%b9%ce%b1-%cf%84%ce%b1-mds\/","title":{"rendered":"20 \u03c7\u03c1\u03cc\u03bd\u03b9\u03b1 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b1\u03c4\u03b1\u03bd\u03cc\u03b7\u03c3\u03b7\u03c2"},"content":{"rendered":"<p><strong>\u039f Daniel Ta \u03ba\u03b1\u03b9 \u03bf\u03b9 \u03c3\u03c5\u03bd\u03b5\u03c1\u03b3\u03ac\u03c4\u03b5\u03c2 \u03c4\u03bf\u03c5 (Telethon Kids Institute, \u0391\u03c5\u03c3\u03c4\u03c1\u03b1\u03bb\u03af\u03b1) \u03c3\u03c5\u03bd\u03bf\u03c8\u03af\u03b6\u03bf\u03c5\u03bd \u03c4\u03b9\u03c2 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ad\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b5\u03c2 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03bf\u03cd \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 MECP2 \u03c3\u03c4\u03bf \u03bd\u03ad\u03bf \u03c4\u03bf\u03c5\u03c2 \u03ac\u03c1\u03b8\u03c1\u03bf \"A brief history of the MECP2 gene duplication syndrome: 20 years of clinical understanding\".<\/strong><\/p>\n\n\n\n<p>Daniel Ta <em>et al, <\/em>\u03a3\u03cd\u03bd\u03c4\u03bf\u03bc\u03b7 \u03b9\u03c3\u03c4\u03bf\u03c1\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03bf\u03cd \u03c4\u03bf\u03c5 MECP2: 20 \u03c7\u03c1\u03cc\u03bd\u03b9\u03b1 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b1\u03c4\u03b1\u03bd\u03cc\u03b7\u03c3\u03b7\u03c2, <em><em>Orphanet J Rare Dis<\/em>&nbsp;<strong>17,&nbsp;<\/strong>131 (2022)<\/em><\/p>\n\n\n\n<p><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n<p>\u03a0\u0395\u03a1\u0399\u039b\u0397\u03a8\u0397 \u0391\u03a1\u0398\u03a1\u039f\u03a5 (\u03bc\u03b5\u03c4\u03b1\u03c6\u03c1\u03b1\u03c3\u03bc\u03ad\u03bd\u03bf \u03b1\u03c0\u03cc \u03c4\u03b1 \u03b1\u03b3\u03b3\u03bb\u03b9\u03ba\u03ac):<\/p>\n<p>\u03a4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03bf\u03cd \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 MECP2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03bc\u03b9\u03b1 \u03c3\u03c0\u03ac\u03bd\u03b9\u03b1 \u03c3\u03c5\u03b3\u03b3\u03b5\u03bd\u03ae\u03c2 \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ae \u03a7 \u03c0\u03bf\u03c5 \u03bf\u03b4\u03b7\u03b3\u03b5\u03af \u03c3\u03b5 \u03bc\u03b9\u03b1 \u03bd\u03b5\u03c5\u03c1\u03bf\u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ae \u03c0\u03bf\u03c5 \u03c0\u03c1\u03bf\u03ba\u03b1\u03bb\u03b5\u03af\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03bf\u03bd \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03cc \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 \u03c4\u03b7\u03c2 \u03bc\u03b5\u03b8\u03c5\u03bb\u03bf-CpG-\u03b4\u03b5\u03c3\u03bc\u03b5\u03c5\u03c4\u03b9\u03ba\u03ae\u03c2 \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7\u03c2 2 (MECP2), \u03b5\u03bd\u03cc\u03c2 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 \u03c4\u03bf\u03c5 \u03bf\u03c0\u03bf\u03af\u03bf\u03c5 \u03bf\u03b9 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c0\u03bf\u03c5 \u03bf\u03b4\u03b7\u03b3\u03bf\u03cd\u03bd \u03c3\u03b5 \u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1\u03c2 \u03bf\u03b4\u03b7\u03b3\u03bf\u03cd\u03bd \u03c3\u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Rett (RTT).<\/p>\n<p>\u039f \u03b5\u03c0\u03b9\u03c0\u03bf\u03bb\u03b1\u03c3\u03bc\u03cc\u03c2 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03bf\u03cd \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 MECP2 \u03b5\u03ba\u03c4\u03b9\u03bc\u03ac\u03c4\u03b1\u03b9 \u03c3\u03b5 1\/150.000 \u03b3\u03b5\u03bd\u03bd\u03ae\u03c3\u03b5\u03b9\u03c2 \u03c3\u03b5 \u03b1\u03b3\u03cc\u03c1\u03b9\u03b1. \u03a4\u03b1 \u03ba\u03cd\u03c1\u03b9\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c4\u03bf\u03c5 MeCP2dupS \u03b5\u03af\u03bd\u03b1\u03b9 \u03b7 \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b1, \u03b7 \u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7, \u03b7 \u03c5\u03c0\u03bf\u03c4\u03bf\u03bd\u03af\u03b1, \u03bf\u03b9 \u03b5\u03c0\u03b9\u03bb\u03b7\u03c0\u03c4\u03b9\u03ba\u03ad\u03c2 \u03ba\u03c1\u03af\u03c3\u03b5\u03b9\u03c2, \u03bf\u03b9 \u03b5\u03c0\u03b1\u03bd\u03b1\u03bb\u03b1\u03bc\u03b2\u03b1\u03bd\u03cc\u03bc\u03b5\u03bd\u03b5\u03c2 \u03b1\u03bd\u03b1\u03c0\u03bd\u03b5\u03c5\u03c3\u03c4\u03b9\u03ba\u03ad\u03c2 \u03bb\u03bf\u03b9\u03bc\u03ce\u03be\u03b5\u03b9\u03c2, \u03c4\u03b1 \u03b3\u03b1\u03c3\u03c4\u03c1\u03b5\u03bd\u03c4\u03b5\u03c1\u03b9\u03ba\u03ac \u03c0\u03c1\u03bf\u03b2\u03bb\u03ae\u03bc\u03b1\u03c4\u03b1, \u03b7 \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ae \u03c4\u03bf\u03c5 \u03c6\u03ac\u03c3\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c4\u03bf\u03c5 \u03b1\u03c5\u03c4\u03b9\u03c3\u03bc\u03bf\u03cd \u03ba\u03b1\u03b9 \u03b7 \u03b4\u03c5\u03c3\u03bc\u03bf\u03c1\u03c6\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c0\u03c1\u03bf\u03c3\u03ce\u03c0\u03bf\u03c5 - \u03b1\u03bd \u03ba\u03b1\u03b9 \u03b1\u03c5\u03c4\u03ad\u03c2 \u03bf\u03b9 \u03c3\u03c5\u03bd\u03bd\u03bf\u03c3\u03b7\u03c1\u03cc\u03c4\u03b7\u03c4\u03b5\u03c2 \u03b4\u03b5\u03bd \u03ad\u03c7\u03bf\u03c5\u03bd \u03b1\u03ba\u03cc\u03bc\u03b7 \u03ba\u03b1\u03c4\u03b1\u03bd\u03bf\u03b7\u03b8\u03b5\u03af \u03bc\u03b5 \u03b5\u03c0\u03b1\u03c1\u03ba\u03ae \u03b1\u03ba\u03c1\u03af\u03b2\u03b5\u03b9\u03b1. \u0397 \u03c0\u03b1\u03c1\u03bf\u03cd\u03c3\u03b1 \u03b1\u03bd\u03b1\u03c3\u03ba\u03cc\u03c0\u03b7\u03c3\u03b7 \u03ba\u03b1\u03bb\u03cd\u03c0\u03c4\u03b5\u03b9 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b5\u03c2 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03c9\u03bd \u03b1\u03c0\u03cc \u03c4\u03b9\u03c2 \u03c4\u03b5\u03bb\u03b5\u03c5\u03c4\u03b1\u03af\u03b5\u03c2 \u03b4\u03cd\u03bf \u03b4\u03b5\u03ba\u03b1\u03b5\u03c4\u03af\u03b5\u03c2 \u03b1\u03c0\u03cc \u03c4\u03cc\u03c4\u03b5 \u03c0\u03bf\u03c5 \u03b1\u03bd\u03b1\u03ba\u03b1\u03bb\u03cd\u03c6\u03b8\u03b7\u03ba\u03b5 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03c4\u03bf 1999. \u039c\u03b5\u03c4\u03ac \u03b1\u03c0\u03cc \u03bc\u03b9\u03b1 \u03bf\u03bb\u03bf\u03ba\u03bb\u03b7\u03c1\u03c9\u03bc\u03ad\u03bd\u03b7 \u03b1\u03bd\u03b1\u03c3\u03ba\u03cc\u03c0\u03b7\u03c3\u03b7 \u03c4\u03c9\u03bd \u03b1\u03bd\u03b1\u03c6\u03b5\u03c1\u03cc\u03bc\u03b5\u03bd\u03c9\u03bd \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ce\u03bd, \u03b7 \u03c0\u03b1\u03c1\u03bf\u03cd\u03c3\u03b1 \u03b1\u03bd\u03b1\u03c3\u03ba\u03cc\u03c0\u03b7\u03c3\u03b7 \u03ad\u03c7\u03b5\u03b9 \u03b5\u03bd\u03c4\u03bf\u03c0\u03af\u03c3\u03b5\u03b9 \u03c4\u03bf\u03bc\u03b5\u03af\u03c2 \u03c0\u03b5\u03c1\u03b9\u03bf\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b7\u03c2 \u03b3\u03bd\u03ce\u03c3\u03b7\u03c2, \u03b3\u03b9\u03b1 \u03c4\u03bf\u03c5\u03c2 \u03bf\u03c0\u03bf\u03af\u03bf\u03c5\u03c2 \u03c3\u03c5\u03bd\u03b9\u03c3\u03c4\u03bf\u03cd\u03bc\u03b5 \u03c4\u03b7\u03bd \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7 \u03c6\u03b1\u03b9\u03bd\u03bf\u03c4\u03c5\u03c0\u03bf\u03c0\u03bf\u03af\u03b7\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03b1\u03c5\u03c4\u03bf\u03cd \u03bc\u03ad\u03c3\u03c9 \u03c4\u03b7\u03c2 \u03b4\u03b9\u03b5\u03b8\u03bd\u03bf\u03cd\u03c2 \u03c3\u03c5\u03bb\u03bb\u03bf\u03b3\u03ae\u03c2 \u03b4\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03c9\u03bd. \u0397 \u03c0\u03c1\u03bf\u03c3\u03c0\u03ac\u03b8\u03b5\u03b9\u03b1 \u03b1\u03c5\u03c4\u03ae \u03b8\u03b1 \u03b2\u03bf\u03b7\u03b8\u03bf\u03cd\u03c3\u03b5 \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03c3\u03c4\u03b7 \u03b4\u03b9\u03ac\u03ba\u03c1\u03b9\u03c3\u03b7 \u03c4\u03c9\u03bd \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ce\u03bd \u03b5\u03c0\u03b9\u03ba\u03b1\u03bb\u03cd\u03c8\u03b5\u03c9\u03bd \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03bf\u03cd \u03ba\u03b1\u03b9 \u03c4\u03bf\u03c5 RTT.<\/p>\n<p><a role=\"button\" href=\"\/el\/_wp_link_placeholder\/\" data-wplink-edit=\"true\">&nbsp;<\/a><\/p>\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-fill\"><a class=\"wp-block-button__link has-white-color has-text-color has-background wp-element-button\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8939085\/\" style=\"border-radius:10px;background-color:#f7a13f\" target=\"_blank\" rel=\"noreferrer noopener\">\u0394\u03b5\u03af\u03c4\u03b5 \u03c4\u03b7 \u03b4\u03b7\u03bc\u03bf\u03c3\u03af\u03b5\u03c5\u03c3\u03b7<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et ses coll\u00e9gues (Institut Telethon Kids Institute, Australie) r\u00e9sument dans leur nouvel article \u00ab La br\u00e8ve histoire du syndrome de la duplication du g\u00e8ne MECP2 : 20 ann\u00e9es [&hellip;]<\/p>","protected":false},"author":2,"featured_media":4822,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-2132","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>20 ann\u00e9es de compr\u00e9hension cliniques - DupMECP2<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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