{"id":5316,"date":"2025-02-26T08:24:27","date_gmt":"2025-02-26T07:24:27","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=5316"},"modified":"2025-02-26T16:05:51","modified_gmt":"2025-02-26T15:05:51","slug":"epigenetische-syndromen","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/epigenetische-syndromen\/","title":{"rendered":"Epigenetic syndromes"},"content":{"rendered":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section tab_id=”1588325715276-80d12435-d6f0″ title=”Publicaties Epigenetische syndromen”][vc_column_text]Draksler et al. (2024) Exploring Kleefstra syndrome cohort phenotyp characteristics: Prevalence insights from caregiver-reported outcomes<\/strong> Eur J Med Genet. Pubmed<\/a><\/p>\n

Rots et al. (2024) Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from\u00a0Kleefstra\u00a0and Kabuki syndromes <\/strong>Am J Hum Genet. Pubmed<\/a><\/p>\n

Rots et al. (2024) Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome <\/strong>Am J Hum Genet. Pubmed<\/a><\/p>\n

Rots et al. (2024) Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile <\/strong>Clin Genet. Pubmed<\/a><\/p>\n

Morison et al. (2024) Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals <\/strong>J Med Genet. Pubmed<\/a><\/p>\n

Bouman et al. (2024) Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies <\/strong>Am J Med Genet A. Pubmed<\/a><\/p>\n

Rots et al. (2023) The clinical and molecular spectrum of the\u00a0KDM6B-related neurodevelopmental disorder <\/strong>Am J Hum Genet. Pubmed<\/a><\/p>\n

Wang et al. (2022) Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP\/PKA pathway <\/strong>Cell Rep. Pubmed<\/a><\/p>\n

Weerts et al. (2021) Delineating the molecular and phenotypic spectrum of the\u00a0SETD1B-related syndrome <\/strong>Genet Med Pubmed<\/a><\/p>\n

Wang et al. (2021) SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders <\/strong>Front Mol Neurosci. Pubmed<\/a><\/p>\n

Kummeling et al. (2021) Characterization of\u00a0SETD1A\u00a0haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome <\/strong>Mol Psychiatry. Pubmed<\/a><\/p>\n

Barish et al. (2021) BICRA, a SWI\/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms <\/strong>Am J Hum Genet. Pubmed<\/a><\/p>\n

Iacono et al. (2018) Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome <\/strong>Nucleic Acids Res. <\/strong>Pubmed<\/a><\/p>\n

De Boer et al. (2018) EHMT1<\/em>\u00a0mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction <\/strong>Mol Autism. Pubmed<\/a><\/p>\n

Koemans et al. (2017) Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder <\/strong>PLoS Genet. Pubmed<\/a><\/p>\n

Benevento et al. (2016) Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling <\/strong>Neuron. Pubmed<\/a><\/p>\n

Balemans et al. (2014) Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice <\/strong>Dev Biol. Pubmed<\/a><\/p>\n

Balemans et al. (2013) Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome <\/strong>Hum Mol Genet. Pubmed<\/a><\/p>\n

Kleefstra et al. (2012) Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability <\/strong>Am J Hum Genet. Pubmed<\/a><\/p>\n

Willemsen et al. (2012) Update on Kleefstra Syndrome <\/strong>Mol Syndromol. Pubmed<\/a><\/p>\n

Verhoeven et al. (2011) Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course <\/strong>Am J Med Genet A. Pubmed<\/a><\/p>\n

Nillesen et al. (2011) Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome <\/strong>Hum Mutat. Pubmed<\/a><\/p>\n

Willemsen et al. (2011) Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions <\/strong>Clin Genet. Pubmed<\/a><\/p>\n

Verhoeven et al. (2010) Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients <\/strong>Am J Med Genet B Neuropsychiatr Genet. Pubmed<\/a><\/p>\n

Kleefstra et al. (2009) Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype <\/strong>J Med Genet. Pubmed<\/a><\/p>\n

Stewart et al. (2007) The chromosome 9q subtelomere deletion syndrome <\/strong>Am J Med Genet C Semin Med Genet. Pubmed<\/a><\/p>\n

Kleefstra et al. (2006) Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome <\/strong>Am J Hum Genet. Pubmed<\/a><\/p>\n

Kleefstra et al. (2005) Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome <\/strong>J Med Genet. Pubmed<\/a><\/p>\n[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column][vc_tta_accordion][vc_tta_section tab_id=”1588325715276-80d12435-d6f0″ title=”Publicaties Epigenetische syndromen”][vc_column_text]Draksler et al. (2024) Exploring Kleefstra syndrome cohort phenotyp characteristics: Prevalence insights from caregiver-reported outcomes Eur J Med Genet. Pubmed Rots et al. (2024) Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from\u00a0Kleefstra\u00a0and Kabuki syndromes Am J Hum Genet. Pubmed Rots et al. (2024) Comprehensive EHMT1 variants analysis broadens […]<\/p>","protected":false},"author":5,"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\/5316"}],"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\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=5316"}],"version-history":[{"count":8,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/5316\/revisions"}],"predecessor-version":[{"id":5345,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/5316\/revisions\/5345"}],"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=5316"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}