Socioeconomic status in patients with Turner syndrome

por Noordman, Iris D., van der Velden, Janiëlle AEM., Timmers, Henri JLM., Reisch, Nicole, Richter-Unruh, Annette, Pienkowksi, Catherine, Roeleveld, Nel, Claahsen-van der Grinten, Hedi L.
Publicado 2021

Metabolome-guided genomics to identify mutations in isocitrate dehydrogenase, fumarate hydratase and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

por Richter, Susan, Gieldon, Laura, Pang, Ying, Peitzsch, Mirko, Huynh, Thanh, Leton, Rocio, Viana, Bruna, Ercolino, Tonino, Mangelis, Anastasios, Rapizzi, Elena, Menschikowski, Mario, Aust, Daniela, Kroiss, Matthias, Beuschlein, Felix, Gudziol, Volker, Timmers, Henri JLM, Lenders, Jacques, Mannelli, Massimo, Cascon, Alberto, Pacak, Karel, Robledo, Mercedes, Eisenhofer, Graeme, Klink, Barbara
Publicado 2018

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

por Gieldon, Laura, William, Doreen, Hackmann, Karl, Jahn, Winnie, Jahn, Arne, Wagner, Johannes, Rump, Andreas, Bechmann, Nicole, Nölting, Svenja, Knösel, Thomas, Gudziol, Volker, Constantinescu, Georgiana, Masjkur, Jimmy, Beuschlein, Felix, Timmers, Henri JLM, Canu, Letizia, Pacak, Karel, Robledo, Mercedes, Aust, Daniela, Schröck, Evelin, Eisenhofer, Graeme, Richter, Susan, Klink, Barbara
Publicado 2019

Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas

por Hoekstra, Attje S., Hensen, Erik F., Jordanova, Ekaterina S., Korpershoek, Esther, Anouk N.A., van der Horst-Schrivers, Cornelisse, Cees, Corssmit, Eleonora P.M., Hes, Frederik J., Jansen, Jeroen C., Kunst, Henricus P.M., Timmers, Henri J.L.M., Bateman, Adrian, Eccles, Diana, Bovée, Judith V.M.G., Devilee, Peter, Bayley, Jean-Pierre
Publicado 2017

Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers

por Rijken, Johannes A., van Hulsteijn, Leonie T., Dekkers, Olaf M., Niemeijer, Nicolasine D., Leemans, C. René, Eijkelenkamp, Karin, van der Horst-Schrivers, Anouk N.A., Kerstens, Michiel N., van Berkel, Anouk, Timmers, Henri J.L.M., Kunst, Henricus P.M., Bisschop, Peter H.L.T., Dreijerink, Koen M.A., van Dooren, Marieke F., Hes, Frederik J., Jansen, Jeroen C., Corssmit, Eleonora P.M., Hensen, Erik F.
Publicado 2019