Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Rita Koole"'
Autor:
Sjaam Jainandunsing, H. Rita Koole, Joram N.I. van Miert, Trinet Rietveld, J.L. Darcos Wattimena, Eric J.G. Sijbrands, Felix W.M. de Rooij
Publikováno v:
EBioMedicine, Vol 30, Iss , Pp 295-302 (2018)
Transcription factor 7-like 2 (TCF7L2) is the main susceptibility gene for type 2 diabetes, primarily through impairing the insulin secretion by pancreatic β cells. However, the exact in vivo mechanisms remain poorly understood. We performed a famil
Externí odkaz:
https://doaj.org/article/36e579999d6240f29c3b34791b027624
Autor:
Anne Moniek van Tuyll van Serooskerken, J. H. Paul Wilson, Jorge Frank, Michel van Geel, Reno S. Bladergroen, Sylvia Joussen, Felix W. M. de Rooij, P.M. Steijlen, Rita Koole, Pamela Poblete-Gutiérrez, Annie Edixhoven, Hans F. Merk, Kornelis Te Velde, Jens M. Baron
Publikováno v:
Journal of Investigative Dermatology, 131(11), 2249-2254. Nature Publishing Group
Journal of Investigative Dermatology, 131(11), 2249-2254. Elsevier Science
Journal of Investigative Dermatology, 131(11), 2249-2254. Elsevier Science
The simultaneous dysfunction of two enzymes within the heme biosynthetic pathway in a single patient is rare. Not more than 15 cases have been reported. A woman with a transient episode of severe photosensitivity showed a biochemical porphyrin profil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e662bc33490bf7cf8d0ac22e04cb1f
https://doi.org/10.1038/jid.2011.186
https://doi.org/10.1038/jid.2011.186
Autor:
Patrick P.C. Boor, Anne Marie Westerman, Mark M. Entius, J. H. Paul Wilson, Felix W. M. de Rooij, Dick Lindhout, G. Johan A. Offerhaus, Ellen de Baar, M. Loes F Van Velthuysen, Rita Koole
Publikováno v:
Lancet (UK), 353(9160), 1211-1215. Elsevier Ltd.
Lancet, 353(9160), 1211-1215. Elsevier Limited
Lancet, 353(9160), 1211-1215. Elsevier Limited
Summary Background The association between heredity, gastrointestinal polyposis, and mucocutaneous pigmentation in Peutz-Jeghers syndrome (PJS) was first recognised in 1921 by Peutz in a Dutch family. This original family has now been followed-up for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df546002be0b9dfdc2a6cc7e3da9ba68
https://doi.org/10.1016/s0140-6736(98)08018-0
https://doi.org/10.1016/s0140-6736(98)08018-0
Autor:
G. Johan A. Offerhaus, J. H. Paul Wilson, Anne Marie Westerman, Patrick P.C. Boor, Rita Koole, Dicky J. J. Halley, Jan Lubinski, Mark M. Entius, Ellen de Baar, Felix W. M. de Rooij, Dick Lindhout
Publikováno v:
Human mutation, 13(6), 476-481. Wiley-Liss Inc.
The Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder in which gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and a predisposition for developing cancer are transmitted in an autosomal dominant fashion. The recently id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9efc648a451043abaa1105a57d9b77
https://doi.org/10.1002/(sici)1098-1004(1999)13:6<476::aid-humu7>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1999)13:6<476::aid-humu7>3.0.co
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42cb819c03a36a654cb2f51a948e977f
https://doi.org/10.1530/endoabs.32.p856
https://doi.org/10.1530/endoabs.32.p856
Autor:
Anne Marie Westerman, Mark M. Entius, Patrick P.C. Boor, Rita Koole, Ellen de Baar, G. Johan A. Offerhaus, Jan Lubinski, Dick Lindhout, Dicky J.J. Halley, Felix W.M. de Rooij, J.H. Paul Wilson
Publikováno v:
Human Mutation. 13:476
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7bc0ef88ac7a7e7f0239dc1a7e6965f
https://doi.org/10.1002/(sici)1098-1004(1999)13:6<476::aid-humu7>3.3.co
https://doi.org/10.1002/(sici)1098-1004(1999)13:6<476::aid-humu7>3.3.co