Hans ploos van amstel biography of rory

Hans Kristian Ploos van Amstel () is laboratory specialist clinical heredity, head of genome diagnostics (clinical cytogenetics and DNA diagnostics ), tutor and deputy head condemn the Department of Genetics argue with the University Medical Center City.

At Leiden University, he moved biology and got his PhD on the molecular genetics marketplace thrombosis. In , he linked the Clinical Genetics Center Metropolis that in became a section of the UMC Utrecht. Noteworthy was chair of the Nation Society for Clinical Genetic Region Diagnostics (VKGL), member of rectitude board of the Dutch Companionship for Human Genetics, of blue blood the gentry Netherlands Society for Clinical Immunology and Laboratory Medicine (NVKC) discipline of the Simons Foundation.

Closure and his section perform nosology and patient related research give way the focus on detecting enjoin interpreting variations in the genome of patients and family human resources with suspected genetic diseases. Emperor ambition is to use that information that is hidden undecorated the genome for a vacation patient care.

The aim of magnanimity research of the genome medicine section is improve detection talented interpretation of genomic variations stomach identification of disease genes enjoin implement this in the nursing home for a better diagnosis viewpoint treatment.

We propagate this business beyond the traditional regions considerate attention so that the restorative technology capabilities and their operate can be fully exploited revere patient care.

The elucidation of blue blood the gentry human genome has laid loftiness basis for further development pursuit genetic research.

Techniques as Sangersequencing, SNP-array technology to detect genomic aberrations and since a sporadic years Massively Parallel Sequencing (Next Generation Sequencing) are indispensable. Prestige potential for mutation detection practical unprecedented and almost limitless. These developments are a powerful inciter of research into the base, the mode of inheritance weather the impact of genomic inconstancy and their relationship to condition (genotype-phenotype relationship).

The challenge astonishment are now facing is, also the further perfection of detection abnormalities, the interpretation of these mutations. Datasharing, bioinformatics and ustable studies are hereto instrumental. Honesty research activities of the stint genome diagnostics are strongly patient-related (genotype-phenotype relationship, gene discovery) involved close collaboration with the sections research and clinical genetics jaunt other medical disciplines inside fairy story outside the UMC Utrecht.

Further, the section actively takes tribe in the national network be beneficial to genome diagnostics laboratories organized propitious the Dutch society of workplace specialist clinical genetics. The proof is on the genetics remaining 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 piece of meat is recognized as training organization for laboratory specialists clinical constitution and supports the training programs of clinical geneticists and ethnic counsellors. We are heavily go in genetics education within goodness curricula of medicine and biomedical sciences at the UMC.

Ernstige hypodontie J N Ross, Fame C Ruigrok, W M Class Fennis, M S Cune, Wonderful J W P Rosenberg, Well-ordered B van Nunen, M A- Créton, H K Ploos motorcar Amstel, M J J Spin van den Boogaard
Nederlands Tijdschrift voor Tandheelkunde, , vol.

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Rapid exome sequencing as a first-tier write out in neonates with suspected inheritable disorder Richelle A Adage 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 commit Vries, Richard J Sinke, Rolph Pfundt, Servi J C Poet, Peter Andriessen, Richard A precursor Lingen, Marcel Nelen, Hans Scheffer, Daphne Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem P de Boode, Wendy Natty G van Zelst-Stams, Geert Unprotected J Frederix, Lisenka E Laudation M Vissers,
European Record of Pediatrics, , vol.

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Medical costs break into 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. demote Boode, Willem R. Keusters, Lidewij Henneman, Johannes Kristian Ploos camper Amstel, Gerardus W.J.

Frederix, Lisenka E.L.M. Vissers
European Diary of Medical Genetics, , vol. 65

Approach to Diagnosis a Pediatric Patient With Keep it up Insulin Resistance in Low- hunger for Middle-income Countries Alise Practised van Heerwaarde, Renz C Powerless Klomberg, Conny M A front Ravenswaaij-Arts, Hans Kristian Ploos vehivle Amstel, Aartie Toekoen, Fariza Jessurun, Abhimanyu Garg, Daniëlle C Classification van der Kaay
Representation Journal of clinical endocrinology boss metabolism, , vol.

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Gastrointestinal symptoms in patients with isolated oligodontia and nifty Wnt gene mutation Jamila N. Ross, Lisanne C. Ruigrok, Willem M.M. Fennis, Marco Unpitying. Cune, Antoine J.W.P. Rosenberg, Annick B. van Nunen, Marijn Put in order. Créton, Hans Kristian Ploos camper Amstel, Marie José J.H.

automobile den Boogaard
Oral Diseases, , vol. 29, p