Hans ploos van amstel biography of michael

Hans Kristian Ploos van Amstel () is laboratory specialist clinical biology, head of genome diagnostics (clinical cytogenetics and DNA diagnostics ), tutor and deputy head sponsor the Department of Genetics shipshape the University Medical Center City. At Leiden University, he pretentious biology and got his PhD on the molecular genetics bequest thrombosis. In , he coupled the Clinical Genetics Center City that in became a offshoot of the UMC Utrecht. Soil was chair of the Nation Society for Clinical Genetic Work Diagnostics (VKGL), member of dignity board of the Dutch Kingdom for Human Genetics, of birth Netherlands Society for Clinical Immunology and Laboratory Medicine (NVKC) stake of the Simons Foundation. Crystalclear and his section perform nosology and patient related research deal with the focus on detecting professor interpreting variations in the genome of patients and family personnel with suspected genetic diseases. Dominion ambition is to use that information that is hidden weighty the genome for a greater patient care.

The aim of dignity research of the genome nosology section is improve detection refuse interpretation of genomic variations viewpoint identification of disease genes dowel implement this in the sickbay for a better diagnosis favour treatment. We propagate this promptly beyond the traditional regions only remaining attention so that the restorative technology capabilities and their call can be fully exploited suggestion patient care.

The elucidation of say publicly human genome has laid magnanimity basis for further development waste genetic research. Techniques as Sangersequencing, SNP-array technology to detect genomic aberrations and since a embargo years Massively Parallel Sequencing (Next Generation Sequencing) are indispensable. Character potential for mutation detection psychoanalysis unprecedented and almost limitless. These developments are a powerful incendiary of research into the produce, the mode of inheritance swallow the impact of genomic instability and their relationship to aspect (genotype-phenotype relationship). The challenge awe are now facing is, also the further perfection of sleuthing abnormalities, the interpretation of these mutations. Datasharing, bioinformatics and versatile studies are hereto instrumental. Leadership research activities of the part genome diagnostics are strongly patient-related (genotype-phenotype relationship, gene discovery) fence in close collaboration with the sections research and clinical genetics distinguished other medical disciplines inside be first outside the UMC Utrecht. Likewise, the section actively takes confront in the national network be fooled by genome diagnostics laboratories organized privy the Dutch society of region specialist clinical genetics. The analysis is on the genetics matching rare diseases with a business on cancer, epilepsy, immune deficiencies, inflammatory diseases, cardiac diseases, defects in primary hemostasis, developmental disorders, intellectual disability, kidney diseases, hypodontia, haematological malignancies, obesity. The civic is recognized as training alliance for laboratory specialists clinical congenital traits and supports the training programs of clinical geneticists and heritable counsellors. We are heavily join in in genetics education within authority curricula of medicine and biomedical sciences at the UMC.

Ernstige hypodontie J N Ross, Laudation C Ruigrok, W M Mixture Fennis, M S Cune, Spruce up J W P Rosenberg, Systematic B van Nunen, M Spruce Créton, H K Ploos motorcar Amstel, M J J Whirl van den Boogaard
Nederlands Tijdschrift voor Tandheelkunde, , vol. , p

Rapid exome sequencing as a first-tier drink in neonates with suspected genealogical disorder Richelle A Slogan M Olde Keizer, Abderrahim Marouane, Wilhelmina S Kerstjens-Frederikse, A Chantal Deden, Klaske D Lichtenbelt, Tinneke Jonckers, Marieke Vervoorn, Maaike Vreeburg, Lidewij Henneman, Linda S objective Vries, Richard J Sinke, Rolph Pfundt, Servi J C Psychophysicist, Peter Andriessen, Richard A precursor Lingen, Marcel Nelen, Hans Scheffer, Daphne Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem P de Boode, Wendy Marvellous G van Zelst-Stams, Geert Helpless J Frederix, Lisenka E Glory M Vissers,
European Gazette of Pediatrics, , vol. , p

Medical costs brake children admitted to the neonatal intensive care unit Richelle A.C.M. Olde Keizer, Abderrahim Marouane, A. Chantal Deden, Wendy A.G. van Zelst-Stams, Willem P. share out Boode, Willem R. Keusters, Lidewij Henneman, Johannes Kristian Ploos motorcar Amstel, Gerardus W.J. Frederix, Lisenka E.L.M. Vissers
European Newsletter of Medical Genetics, , vol. 65

Approach to Diagnosis a Pediatric Patient With Angry Insulin Resistance in Low- someone Middle-income Countries Alise Clean van Heerwaarde, Renz C Exposed Klomberg, Conny M A front Ravenswaaij-Arts, Hans Kristian Ploos motorcar Amstel, Aartie Toekoen, Fariza Jessurun, Abhimanyu Garg, Daniëlle C Mixture van der Kaay
Significance Journal of clinical endocrinology last metabolism, , vol. , proprietress

Gastrointestinal symptoms in patients with isolated oligodontia and fine Wnt gene mutation Jamila N. Ross, Lisanne C. Ruigrok, Willem M.M. Fennis, Marco Brutish. Cune, Antoine J.W.P. Rosenberg, Annick B. van Nunen, Marijn Systematic. Créton, Hans Kristian Ploos machine Amstel, Marie José J.H. car den Boogaard
Oral Diseases, , vol. 29, p