{"id":4413,"date":"2020-10-31T13:15:14","date_gmt":"2020-10-31T12:15:14","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=4413"},"modified":"2024-03-25T15:50:28","modified_gmt":"2024-03-25T14:50:28","slug":"uniek","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/uniek\/","title":{"rendered":"UNIQUE (rare autism spectrum disorders)"},"content":{"rendered":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=&#8221;Publicaties zeldzame autisme&#8221; tab_id=&#8221;1588325715276-80d12435-d6f0&#8243;][vc_column_text]Albuainain F, et.al. (2024) <strong>Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.<\/strong> <em>Eur <\/em><em>J Hum Genet.<\/em> <span style=\"text-decoration: underline;\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/38200082\/\" target=\"_blank\" rel=\"noopener noreferrer\">Pubmed<\/a><\/span><\/p>\n<p>Heimer G, <em>et al.<\/em> (2020) <strong>Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.<\/strong> <em>Hum Mutat<\/em> 41, 476\u201386. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31692205\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Kumar R, <em>et al.<\/em> (2020) <strong>Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor. <\/strong>Front Mol Neurosci. 13,1-15. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/32116545\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>de Vrij FM, <em>et al.<\/em> (2019) <strong>Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia. <\/strong><em>Mol Psychiatry<\/em>. 24; 757\u201371. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29302076\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>White T, <em>et al.<\/em> (2018) <strong>Paediatric population neuroimaging and the Generation R Study: the second wave.<\/strong> <em>Eur J Epidemiol.<\/em> 33; 99\u2013125. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29064008\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Bruinsma CF, <em>et al.<\/em> (2015) <strong>An essential role for UBE2A\/HR6A in learning and memory and mGLUR-dependent long-term depression. <\/strong><em>Hum Mol Genet. <\/em>25; 1-8. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/26476408\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Eussen, M.L. <em>et al.<\/em> (2013) <strong>The association of quality of social relations, symptom severity and intelligence with anxiety in children with autism spectrum disorders.<\/strong> <em>Autism<\/em> 17, 723\u2013735. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/22917843\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Marroun, El, H. <em>et al.<\/em> (2013<strong>) Prenatal Tobacco Exposure and Brain Morphology: A Prospective Study in Young Children<\/strong>. <em>Neuropsychopharmacology. <\/em><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24096296\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Louwerse, A. <em>et al.<\/em> (2013) <strong>Autonomic Responses to Social and Nonsocial Pictures in Adolescents With Autism Spectrum Disorder.<\/strong> <em>Autism Res. <\/em><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24022989\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>So, P. <em>et al.<\/em> (2013) <strong>Using the Child Behavior Checklist and the Teacher&#8217;s Report Form for identification of children with autism spectrum disorders.<\/strong> <em>Autism<\/em> 17, 595\u2013607. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/22914776\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Rom\u00e1n, G.C. <em>et al.<\/em> (2013) <strong>Association of gestational maternal hypothyroxinemia and increased autism risk. <\/strong><em>Ann Neurol<\/em>. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23943579\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Greaves-Lord, K. <em>et al.<\/em> (2013<strong>) Empirically based phenotypic profiles of children with pervasive developmental disorders: interpretation in the light of the DSM-5.<\/strong> <em>J Autism Dev Disord <\/em>43, 1784\u20131797. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23224513\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>White, T. <em>et al.<\/em> (2013) <strong>Pediatric population-based neuroimaging and the Generation R Study: the intersection of developmental neuroscience and epidemiology.<\/strong> <em>Eur. 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M.C. <em>et al.<\/em> (2002) <strong>Assessing emotional and behavioral problems in children with intellectual disability: revisiting the factor structure of the developmental behavior checklist. <\/strong><em>J Autism Dev Disord <\/em>32, 601\u2013610. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/12553596\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>van der Geest, J.N. <em>et al.<\/em> (2002) <strong>Gaze behavior of children with pervasive developmental disorder toward human faces: a fixation time study.<\/strong> <em>J Child Psychol Psychiatry<\/em> 43, 669\u2013678. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/12120862\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>van der Geest, J.N. <em>et al.<\/em> (2002) <strong>Looking at images with human figures: comparison between autistic and normal children.<\/strong> <em>J Autism Dev Disord <\/em>32, 69\u201375. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/12058845\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a>[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=&#8221;Publicaties zeldzame autisme&#8221; tab_id=&#8221;1588325715276-80d12435-d6f0&#8243;][vc_column_text]Albuainain F, et.al. (2024) Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. Eur J Hum Genet. Pubmed Heimer G, et al. (2020) Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia. Hum Mutat 41, 476\u201386. Pubmed Kumar R, et al. (2020) Expanding Clinical Presentations Due to Variations in THOC2 [&hellip;]<\/p>","protected":false},"author":1,"featured_media":0,"parent":3957,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4413"}],"collection":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=4413"}],"version-history":[{"count":6,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4413\/revisions"}],"predecessor-version":[{"id":5187,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4413\/revisions\/5187"}],"up":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3957"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=4413"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}