Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Lieke Gijezen"'
Autor:
M. van Geel, Maaike Vreeburg, M.G.H.C. Reinders, Klara Mosterd, B. Cosgun, C. N. van Oosterhoud, P.M. Steijlen, Lieke Gijezen, Nicole W.J. Kelleners-Smeets, E. Vermander
Publikováno v:
British journal of dermatology
British Journal of Dermatology, 181(3), 587-591. Wiley
British Journal of Dermatology, 181(3), 587-591. Wiley
Basal cell naevus syndrome (BCNS) is associated with germline mutations in the PTCH1 gene. Postzygotic mosaicism can also cause BCNS. Here we describe two patients, one with multiple basal cell carcinomas (BCCs) and one with clinical BCNS, who had no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::812a89f952b4668ad7c684f33071a331
https://doi.org/10.1111/bjd.17337
https://doi.org/10.1111/bjd.17337
Autor:
M.G.H.C. Reinders, B. Cosgun, M. van Geel, Maaike Vreeburg, E. Vermander, Klara Mosterd, P.M. Steijlen, Lieke Gijezen, C. N. van Oosterhoud, Nicole W.J. Kelleners-Smeets
Publikováno v:
British Journal of Dermatology. 181
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::012bfb27a946d997d87510da538955f8
https://doi.org/10.1111/bjd.18281
https://doi.org/10.1111/bjd.18281
Autor:
Tjinta Brinkhuizen, Arnim Pause, Rachael S. Preston, Andrew R. Tee, David Mark Davies, Elaine A. Dunlop, Anders Bondo Dydensborg, M.A.M. van Steensel, Stephen C. Land, Lieke Gijezen, Fred H. Menko, K. T. Harper, Andrew Philp, Keith Baar, Tijs Claessens
Publikováno v:
Oncogene, 30(10), 1159-1173. Nature Publishing Group
Preston, R S, Philp, A, Claessens, T, Gijezen, L, Dydensborg, A B, Dunlop, E A, Harper, K T, Brinkhuizen, T, Menko, F H, Davies, D M, Land, S C, Pause, A, Baar, K, van Steensel, M A M & Tee, A R 2011, ' Absence of the Birt-Hogg-Dube gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility ', Oncogene, vol. 30, no. 10, pp. 1159-1173 . https://doi.org/10.1038/onc.2010.497
Preston, R S, Philp, A, Claessens, T, Gijezen, L, Dydensborg, A B, Dunlop, E A, Harper, K T, Brinkhuizen, T, Menko, F H, Davies, D M, Land, S C, Pause, A, Baar, K, van Steensel, M A M & Tee, A R 2011, ' Absence of the Birt-Hogg-Dube gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility ', Oncogene, vol. 30, no. 10, pp. 1159-1173 . https://doi.org/10.1038/onc.2010.497
Under conditions of reduced tissue oxygenation, hypoxia-inducible factor (HIF) controls many processes, including angiogenesis and cellular metabolism, and also influences cell proliferation and survival decisions. HIF is centrally involved in tumour
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8d787e3e5f0995aaedf4ee6b1d6c89a
https://hdl.handle.net/1871/36585
https://hdl.handle.net/1871/36585
Autor:
Elisabeth H Jaspars, N.C.T. van Grieken, M. B. A. van Doorn, Edward M Leter, Ernie M.H.F. Bongers, Paul C Johannesma, Pieter E. Postmus, Lieke Gijezen, J-H T. M. van Waesberghe, Theo M. Starink, M.A.M. van Steensel, Arjan C. Houweling, Rogier A. Oldenburg, R.J.A. Van Moorselaar, Marianne A. Jonker, T. A. M. van Os, Johan J.P. Gille, K. Y. van Spaendonck-Zwarts, M. M. de Jong, Fred H. Menko
Publikováno v:
British Journal of Cancer, 105(12), 1912-1919. Nature Publishing Group
Houweling, A C, Gijezen, L M, Jonker, M A, van Doorn, M B A, Oldenburg, R A, van Spaendonck-Zwarts, K Y, Leter, E M, van Os, T A M, van Grieken, N C T, Jaspars, E H, de Jong, M M, Bongers, E M H F, Johannesma, P C, Postmus, P E, van Moorselaar, R J A, van Waesberghe, J H T M, Starink, T M, van Steensel, M A M, Gille, J J P & Menko, F H 2011, ' Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families ', British Journal of Cancer, vol. 105, no. 12, pp. 1912-1919 . https://doi.org/10.1038/bjc.2011.463
British Jounal of Cancer, 105(12), 1912-1919. Nature Publishing Group
British Journal of Cancer
British journal of cancer, 105(12), 1912-1919. Nature Publishing Group
Houweling, A C, Gijezen, L M, Jonker, M A, van Doorn, M B A, Oldenburg, R A, van Spaendonck-Zwarts, K Y, Leter, E M, van Os, T A M, van Grieken, N C T, Jaspars, E H, de Jong, M M, Bongers, E M H F, Johannesma, P C, Postmus, P E, van Moorselaar, R J A, van Waesberghe, J H T M, Starink, T M, van Steensel, M A M, Gille, J J P & Menko, F H 2011, ' Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families ', British Journal of Cancer, vol. 105, no. 12, pp. 1912-1919 . https://doi.org/10.1038/bjc.2011.463
British Jounal of Cancer, 105(12), 1912-1919. Nature Publishing Group
British Journal of Cancer
British journal of cancer, 105(12), 1912-1919. Nature Publishing Group
Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee60ff288397312c36a9973e0efd5722
https://doi.org/10.1038/bjc.2011.463
https://doi.org/10.1038/bjc.2011.463
Autor:
Derek Lim, Eamonn R. Maher, Stéphane Richard, Fiona Macdonald, Johan J.P. Gille, Pauline K. Rehal, Michel van Geel, Lieke Gijezen, Michael S. Nahorski, Tijs Claessens, Fred H. Menko, Sophie Giraud, Maurice A.M. van Steensel
Publikováno v:
Lim, D H K, Rehal, P K, Nahorski, M S, Macdonald, F, Claessens, T, Van Geel, M, Gijezen, L, Gille, J J P, Giraud, S, Richard, S, van Steensel, M, Menko, F H & Maher, E R 2010, ' A New Locus-Specific Database (LSDB) for Mutations in the Folliculin (FLCN) Gene ', Human Mutation, vol. 31, no. 1, pp. E1043-E1051 . https://doi.org/10.1002/humu.21130
Human Mutation, 31(1), E1043-E1051. Wiley-Liss Inc.
Human Mutation, 31(1), E1043-E1051. Wiley
Human Mutation, 31(1), E1043-E1051. Wiley-Liss Inc.
Human Mutation, 31(1), E1043-E1051. Wiley
Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterised by the presence of facial fibrofolliculomas, pulmonary cysts which may be associated with spontaneous pneumothorax and renal tumours. Germline mutations in the gene Follic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1daea655e94d2aabfd7d0d72110adc5a
https://doi.org/10.1002/humu.21130
https://doi.org/10.1002/humu.21130
Autor:
Marigje Vernooij, Herm Martens, Martin H. Prins, C. Henquet, Fred H. Menko, Patty J. Nelemans, Theo M. Starink, Charlène E.U. Oduber, Maurice A.M. van Steensel, Lieke Gijezen
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e99071 (2014)
PLoS ONE, 9(6):e99071. Public Library of Science
Gijezen, L C, Vernooij, M, Martens, H, Oduber, C E U, Henquet, C J M, Starink, T M, Prins, M H, Menko, F H, Nelemans, P J & van Steensel, M A M 2014, ' Topical Rapamycin as a Treatment for Fibrofolliculomas in Birt-Hogg-Dube Syndrome: A Double-Blind Placebo-Controlled Randomized Split-Face Trial ', PLoS ONE, vol. 9, no. 6, e99071 . https://doi.org/10.1371/journal.pone.0099071
PLoS ONE
PLOS ONE, 9(6):e99071. Public Library of Science
PLoS ONE, 9(6):e99071. Public Library of Science
Gijezen, L C, Vernooij, M, Martens, H, Oduber, C E U, Henquet, C J M, Starink, T M, Prins, M H, Menko, F H, Nelemans, P J & van Steensel, M A M 2014, ' Topical Rapamycin as a Treatment for Fibrofolliculomas in Birt-Hogg-Dube Syndrome: A Double-Blind Placebo-Controlled Randomized Split-Face Trial ', PLoS ONE, vol. 9, no. 6, e99071 . https://doi.org/10.1371/journal.pone.0099071
PLoS ONE
PLOS ONE, 9(6):e99071. Public Library of Science
Background Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder characterised by the occurrence of benign, mostly facial, skin tumours called fibrofolliculomas, multiple lung cysts, spontaneous pneumothorax and an increased renal canc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d15a8ebea1e0b89111874dff26ec698
https://doi.org/10.1371/journal.pone.0099071
https://doi.org/10.1371/journal.pone.0099071
Autor:
Johanna, Dahlqvist, Joakim, Klar, Neha, Tiwari, Jens, Schuster, Hans, Törmä, Jitendra, Badhai, Ramon, Pujol, Maurice A M, van Steensel, Tjinta, Brinkhuizen, Tjinta, Brinkhuijzen, Lieke, Gijezen, Antonio, Chaves, Gianluca, Tadini, Anders, Vahlquist, Niklas, Dahl
Publikováno v:
American Journal of Human Genetics, 86(4), 596-603. Cell Press
KLICK syndrome is a rare autosomal-recessive skin disorder characterized by palmoplantar keratoderrna, linear hyperkeratotic papules, and ichthyosiform scaling. In order to establish the genetic cause of this disorder, we collected DNA samples from e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af40fd3ca5d28b74afaca5bd51078a4
Autor:
Tijs Claessens, Johan J.P. Gille, Fiona Macdonald, Fred H. Menko, Eamonn R. Maher, Michel van Geel, Derek Lim, Stéphane Richard, Maurice A.M. van Steensel, Pauline K. Rehal, Lieke Gijezen, Michael S. Nahorski, Sophie Giraud
Publikováno v:
Cancer Research. 70:1848-1848
Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominantly inherited familial cancer syndrome characterized most commonly by the development of facial fibrofolliculomas, pulmonary cysts (predisposing to spontaneous pneumothorax) and renal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8e469a44959be690129fe162b03b40c
https://doi.org/10.1158/1538-7445.am10-1848
https://doi.org/10.1158/1538-7445.am10-1848