{"id":450,"date":"2022-02-09T13:46:53","date_gmt":"2022-02-09T12:46:53","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=450"},"modified":"2022-02-23T12:36:26","modified_gmt":"2022-02-23T11:36:26","slug":"ern-ithaca-nijmegen-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/de\/about-us\/expert-centers\/ern-ithaca-nijmegen-center\/","title":{"rendered":"ERN-ITHACA \u2013 Nijmegen Center"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Sectie Klinische Genetica<br>Afdeling Genetica<br>Radboudumc \u2013 Radboud universitair medisch centrum<br>Geert Grooteplein-Zuid 10<br>6525 GANIJMEGEN<br>The Netherlands<\/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\"><a class=\"wp-block-button__link\" href=\"https:\/\/www.radboudumc.nl\/afdelingen\/genetica\">Website<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"lead\">Blei<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Prof. dr. Tjitske Kleefstra<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Telefon<\/strong>:&nbsp; +31 (0)24 361 3946<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Fax<\/strong>: +31 (0)24 366 8753<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>E-Mail<\/strong>:&nbsp;<a href=\"mailto:ernithaca@radboudumc.nl\">ernithaca@radboudumc.nl<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"scope\">Geltungsbereich<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Das Fachgebiet unseres Zentrums als Mitglied des europ\u00e4ischen Referenznetzwerks (ERN) \u201eITHACA\u201c umfasst alle Syndrome, die mit Entwicklungsst\u00f6rungen und\/oder einer geistigen Behinderung (ID) einhergehen. Etwa 1 von 40 Neugeborenen weist eine angeborene Fehlbildung auf (261 von 10.000 F\u00f6ten und Neugeborenen laut EuroCAt-Berichten), und 1 von 40 leidet unter einer geistigen Behinderung. Daher weisen 3 bis 5 von % aller Geburten eine Entwicklungsanomalie auf oder werden eine solche entwickeln, von denen mindestens 25\u201350 von % genetischen oder genomischen Ursprungs sind. Diese riesige Population stellt in Wirklichkeit eine Ansammlung einer sehr gro\u00dfen Anzahl von einzeln seltenen Erkrankungen dar, die eine extreme Vielfalt an Ursachen und Ph\u00e4notypen aufweisen. Der Zust\u00e4ndigkeitsbereich und das Fachgebiet dieses ITHACA-Zentrums umfassen:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u00fcber 5.500 dysmorphe und multiple angeborene Anomalien (MCA) (aufgef\u00fchrt in der London Dysmorphology Database), darunter \u00fcber 3.000 monogene Erkrankungen, alle Chromosomenanomalien (von denen die meisten nur mittels Array-Technologien nachweisbar sind), multifaktorielle, sporadische dysmorphologische Anomalien sowie Embryo-Fetopathien umweltbedingten Ursprungs<\/li><li>&gt;1.500 monogene und Hunderte chromosomale Formen der geistigen Behinderung mit oder ohne begleitende Autismus-Spektrum-St\u00f6rung (ASD)<\/li><\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"service-to-patients\">Dienst am Patienten<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Die Bev\u00f6lkerung der Region<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[64],"center-status":[15],"class_list":["post-450","expert-centers","type-expert-centers","status-publish","hentry","country-netherlands","center-status-full-member"],"acf":{"name-city":"Nijmegen Center","representative":"Pr Dr Tjitske Kleefstra","latitude":"51.841690 ","longitude":"5.858650","keywords-search":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>ERN-ITHACA \u2013 Nijmegen Center - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/de\/about-us\/expert-centers\/ern-ithaca-nijmegen-center\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Nijmegen Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Sectie Klinische GeneticaAfdeling GeneticaRadboudumc \u2013 Radboud universitair medisch centrumGeert Grooteplein-Zuid 106525 GANIJMEGENThe Netherlands Lead Prof. dr. Tjitske Kleefstra Telephone:&nbsp; +31 (0)24 361 3946 Fax: +31 (0)24 366 8753 Mail:&nbsp;ernithaca@radboudumc.nl Scope The area of expertise of our Centre, as member of the ITHACA European Reference Network (ERN), covers all syndromes exhibiting developmental anomalies and\/or intellectual disability [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/de\/about-us\/expert-centers\/ern-ithaca-nijmegen-center\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2022-02-23T11:36:26+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Gesch\u00e4tzte Lesezeit\" \/>\n\t<meta name=\"twitter:data1\" content=\"1\u00a0Minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-nijmegen-center\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-nijmegen-center\\\/\",\"name\":\"ERN-ITHACA \u2013 Nijmegen Center - ERN ITHACA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\"},\"datePublished\":\"2022-02-09T12:46:53+00:00\",\"dateModified\":\"2022-02-23T11:36:26+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-nijmegen-center\\\/#breadcrumb\"},\"inLanguage\":\"de\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-nijmegen-center\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-nijmegen-center\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"About us > Our EU expert centers\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"ERN-ITHACA \u2013 Nijmegen Center\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"name\":\"ERN ITHACA\",\"description\":\"WELCOME TO ERN-ITHACA WEBSITE!\",\"publisher\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/ern-ithaca.eu\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"de\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\",\"name\":\"ERN-ITHACA\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"de\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"width\":454,\"height\":172,\"caption\":\"ERN-ITHACA\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\"},\"sameAs\":[\"https:\\\/\\\/x.com\\\/ERNIthaca\",\"https:\\\/\\\/www.linkedin.com\\\/company\\\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\\\/?viewAsMember=true\"]}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"ERN-ITHACA \u2013 Nijmegen Center - ERN ITHACA","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/ern-ithaca.eu\/de\/about-us\/expert-centers\/ern-ithaca-nijmegen-center\/","og_locale":"de_DE","og_type":"article","og_title":"ERN-ITHACA \u2013 Nijmegen Center - ERN ITHACA","og_description":"Sectie Klinische GeneticaAfdeling GeneticaRadboudumc \u2013 Radboud universitair medisch centrumGeert Grooteplein-Zuid 106525 GANIJMEGENThe Netherlands Lead Prof. dr. 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