about
The Opitz syndrome gene product, MID1, associates with microtubulesTrismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domainsHeterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceFamilial syndromic esophageal atresia maps to 2p23-p24.Mutations in the pre-replication complex cause Meier-Gorlin syndromePOMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeTooth agenesis and orofacial clefting: genetic brothers in arms?X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHeterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromePLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesisGenotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathyRecurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeAPR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutationsA genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferationPlexin D1 expression is induced on tumor vasculature and tumor cells: a novel target for diagnosis and therapy?Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.Regulation of MYCN expression in human neuroblastoma cells.Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.PRPS1 mutations: four distinct syndromes and potential treatment.Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans.TAp63 is important for cardiac differentiation of embryonic stem cells and heart development.Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityMeier-Gorlin syndrome: report of eight additional cases and review.Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21The role of chromatin repressive marks in cognition and disease: A focus on the repressive complex GLP/G9a.Exome sequencing identifies three novel candidate genes implicated in intellectual disabilityMYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.High-resolution genomic microarrays for X-linked mental retardation.Human intellectual disability genes form conserved functional modules in Drosophila.Pathogenesis of split-hand/split-foot malformation.MicroRNA networks direct neuronal development and plasticity.Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
P50
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P50
description
forsker
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investigador
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Hans Van Bokhoven
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Hans Van Bokhoven
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Hans Van Bokhoven
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J.H.L.M. (Hans) van Bokhoven
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J.H.L.M.
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type
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Hans Van Bokhoven
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Hans Van Bokhoven
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Hans Van Bokhoven
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J.H.L.M. (Hans) van Bokhoven
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J.H.L.M.
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J.H.L.M. (Hans) van Bokhoven
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Hans Van Bokhoven
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Hans Van Bokhoven
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Hans Van Bokhoven
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J.H.L.M. (Hans) van Bokhoven
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J.H.L.M.
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P1053
H-8015-2014
P106
P2798
P31
P496
0000-0002-2153-9254