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Het Centrum Medische Genetica Gent heeft drie belangrijke doelstellingen: medische dienstverlening, onderzoek en onderwijs. Wij stellen onze expertise ter beschikking voor de diagnose en zorg voor patiënten met erfelijke aandoeningen.
Daarnaast streven we naar een beter inzicht in deze erfelijke ziektes en vertalen deze inzichten binnen het onderwijs in een gevarieerd aanbod van disciplines.

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Stage 4S neuroblastoma tumors show a characteristic DNA methylation portrait.

20 september 2016

Abstract: Stage 4S neuroblastoma (NB) is a special type of NB found in infants with metastases at diagnosis and is associated with an excellent outcome due to its remarkable capacity to undergo spontaneous regression. As genomics have not been able to explain this intriguing clinical presentation, we here aimed at profiling the DNA methylome of stage 4S NB to bette...

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BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

15 september 2016

Abstract Targeted mutagenesis by the CRISPR/Cas9 system is currently revolutionizing genetics. The ease of this technique has enabled genome engineering in-vitro and in a range of model organisms and has pushed experimental dimensions to unprecedented proportions. Due to its tremendous progress in terms of speed, read length, throughput and cost, Next-Generation Sequencin...

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RT-qPCR gene expression analysis in zebrafish: Preanalytical precautions and use of expressed repetitive elements for normalization.

15 september 2016

Abstract Methods Cell Biol. 2016;135:329-42. doi: 10.1016/bs.mcb.2016.02.002. Epub 2016 Mar 4. Gene expression analysis is increasingly important in many fields of biological research. Understanding patterns of expressed genes is assumed to provide insight into complex regulatory networks and can lead to the identification of genes relevant to specific biological ...

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Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.

15 september 2016

Abstract Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta (OI). BS is caused by bi-allelic mutations in either the FKBP10 or the PLOD2 gene. PLOD2 encodes the lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lys...

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