Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma

Autor: Birke Bausch, Hartmut P. H. Neumann, Frederik J. Hes, Eleonora P M Corssmit, Johannes A. Rijken, Jeroen C. Jansen, Leonie T. van Hulsteijn, David B. Ascher, Douglas E. V. Pires, Erik F. Hensen, Peter Devilee, Jean-Pierre Bayley

Publikováno v: Bayley, J P, Bausch, B, Rijken, J A, Van Hulsteijn, L T, Jansen, J C, Ascher, D, Pires, D E V, Hes, F J, Hensen, E F, Corssmit, E P M, Devilee, P & Neumann, H P H 2020, ' Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma ', Journal of Medical Genetics, vol. 57, no. 2, pp. 96-103 . https://doi.org/10.1136/jmedgenet-2019-106214
Journal of Medical Genetics, 57(2), 96-103. BMJ Publishing Group
Journal of Medical Genetics, 57(2), 96-103. BMJ PUBLISHING GROUP

BackgroundPathogenic germline variants in subunits of succinate dehydrogenase (SDHB, SDHC and SDHD) are broadly associated with disease subtypes of phaeochromocytoma–paraganglioma (PPGL) syndrome. Our objective was to investigate the role of varian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a817ac92ed8d0ec54ace03874bfb4da
https://doi.org/10.1136/jmedgenet-2019-106214

Appendicitis Presenting As Cellulitis of the Right Leg

Autor: Maarten H.T. Zwartbol, J. Sven D. Mieog, Jos W.S. Merkus, Leonie T. van Hulsteijn, Cees van Nieuwkoop

Publikováno v: The Journal of Emergency Medicine. 52:e1-e3

Background Several infectious processes of intra-abdominal origin may atypically present as skin or soft tissue infections or abscess in the thigh. Case Report We describe the case of a 73-year-old woman who presented to the emergency department with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e8094913cabe0f02835ccaedaf9a4a6
https://doi.org/10.1016/j.jemermed.2016.07.008

Effects of octreotide therapy in progressive head and neck paragangliomas: Case series

Autor: Nicolette van Duinen, Jeroen C. Jansen, Eleonora P M Corssmit, Leonie T. van Hulsteijn, Agatha A. van der Klaauw, Berit M. Verbist, Jan W. A. Smit

Publikováno v: Head & Neck. 35:E391-E396

BACKGROUND: Octreotide, a somatostatin analog, may be beneficial in the treatment of head and neck paragangliomas (HNPGLs). METHODS: We conducted a nonblinded, prospective intervention study. During 1 year, patients received a monthly intramuscular i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::abf48381c6cd6a52b03f9072c5163207
https://doi.org/10.1002/hed.23348

Pheochromocytoma and Paraganglioma

Autor: Leonie T. van Hulsteijn, Eleonora P M Corssmit

Publikováno v: Neuroendocrine Tumours ISBN: 9783662452141

Paragangliomas (PGLs) are rare vascular, neuroendocrine tumors of paraganglia. They can occur sporadically or hereditary, due to germ-line mutations in one of 10 susceptibility genes. PGLs derive from either sympathetic tissue in adrenal (pheochromoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eb95cf67536c6745b90af09ccf36a295
https://doi.org/10.1007/978-3-662-45215-8_24

Phenotype of SDHB mutation carriers in the Netherlands

Autor: N.D. Niemeijer, Jeroen C. Jansen, Jean-Pierre Bayley, Carli M. J. Tops, Frederik J. Hes, Leonie T. van Hulsteijn, Eleonora P M Corssmit

Publikováno v: Familial Cancer, 13(4), 651-657

SDHB mutation carriers are predisposed to developing paragangliomas (PGLs). The objective of this study was to assess genotype-phenotype correlations of a Dutch cohort of SDHB mutation carriers and assess potential differences in clinical phenotypes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0303b51406eb441ff8b3917b9e4ca955
http://hdl.handle.net/1887/103157