Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Kees E P van Roozendaal"'
Autor:
Mia M Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M Korn, Candace Guiducci, Ayellet V Segrè, Kate McGee, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Marion Gauthier-Villars, Hagay Sobol, Michel Longy, Marc Frenay, GEMO Study Collaborators, Frans B L Hogervorst, Matti A Rookus, J Margriet Collée, Nicoline Hoogerbrugge, Kees E P van Roozendaal, HEBON Study Collaborators, Marion Piedmonte, Wendy Rubinstein, Stacy Nerenstone, Linda Van Le, Stephanie V Blank, Trinidad Caldés, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lazaro, Ignacio Blanco, Adalgeir Arason, Oskar T Johannsson, Rosa B Barkardottir, Peter Devilee, Olofunmilayo I Olopade, Susan L Neuhausen, Xianshu Wang, Zachary S Fredericksen, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Alessandra Viel, Paolo Radice, Catherine M Phelan, Steven Narod, Gad Rennert, Flavio Lejbkowicz, Anath Flugelman, Irene L Andrulis, Gord Glendon, Hilmi Ozcelik, OCGN, Amanda E Toland, Marco Montagna, Emma D'Andrea, Eitan Friedman, Yael Laitman, Ake Borg, Mary Beattie, Susan J Ramus, Susan M Domchek, Katherine L Nathanson, Tim Rebbeck, Amanda B Spurdle, Xiaoqing Chen, Helene Holland, kConFab, Esther M John, John L Hopper, Saundra S Buys, Mary B Daly, Melissa C Southey, Mary Beth Terry, Nadine Tung, Thomas V Overeem Hansen, Finn C Nielsen, Mark H Greene, Phuong L Mai, Ana Osorio, Mercedes Durán, Raquel Andres, Javier Benítez, Jeffrey N Weitzel, Judy Garber, Ute Hamann, EMBRACE, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Radka Platte, D Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Lisa Walker, Jacqueline Eason, Julian Barwell, Andrew K Godwin, Rita K Schmutzler, Barbara Wappenschmidt, Stefanie Engert, Norbert Arnold, Dorothea Gadzicki, Michael Dean, Bert Gold, Robert J Klein, Fergus J Couch, Georgia Chenevix-Trench, Douglas F Easton, Mark J Daly, Antonis C Antoniou, David M Altshuler, Kenneth Offit
Publikováno v:
PLoS Genetics, Vol 6, Iss 10, p e1001183 (2010)
The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome
Externí odkaz:
https://doaj.org/article/c7a705a431ab474c952a747fa473b1e8
Autor:
Kees E. P. van Roozendaal, Molka Kammoun, Michael Field, Andreas Dufke, Joris Vermeesch, Annick Toutain, Hao Hu, Theresa Mihalic Mosher, Joep P.M. Geraedts, Hans-Hilger Ropers, Peter White, Jan Liebelt, Sungjin Moon, Vera M. Kalscheuer, Joost Gribnau, Bas de Hoon, Germán Rodríguez Criado, Marie Shaw, Ute Grasshoff, Stefan A. Haas, Benjamin J. Kelly, Lynne Hobson, Marjan De Rademaeker, Christelle Golzio, Suzanna G.M. Frints, Olaf Riess, Claudia S. Bauer, Eric Haan, Nicholas Katsanis, Peter Bauer, Karen W. Gripp, Renee Carroll, Jozef Gecz, Jean Pierre Fryns, Cristina Gontan, Aysegul Ozanturk, Eveline Rentmeester, Martine Raynaud, Scott E. Hickey, Daniel C. Koboldt, Sylvie Manouvrier-Hanu, Lucinda Murray, Koen Devriendt, Christopher Schroeder, Kathryn Friend
Publikováno v:
Molecular Psychiatry, 24(11), 1748-1768. Nature Publishing Group
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84
Autor:
Manju Ghosh, Eric Smeets, Sheffali Gulati, Leopold M. G. Curfs, Kees E. P. van Roozendaal, Neerja Gupta, Madhulika Kabra, Rajni Khajuria, Savita Sapra
Publikováno v:
Journal of Translational Genetics and Genomics.
Autor:
Mia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn, Candace Guiducci, Ayellet V. Segrè, Kate McGee, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Marion Gauthier-Villars, Hagay Sobol, Michel Longy, Marc Frenay, GEMO Study Collaborators, Frans B. L. Hogervorst, Matti A. Rookus, J. Margriet Collée, Nicoline Hoogerbrugge, Kees E. P. van Roozendaal, Marion Piedmonte, Wendy Rubinstein, Stacy Nerenstone, Linda Van Le, Stephanie V. Blank, Trinidad Caldés, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lazaro, Ignacio Blanco, Adalgeir Arason, Oskar T. Johannsson, Rosa B. Barkardottir, Peter Devilee, Olofunmilayo I. Olopade, Susan L. Neuhausen, Xianshu Wang, Zachary S. Fredericksen, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Alessandra Viel, Paolo Radice, Catherine M. Phelan, Steven Narod, Gad Rennert, Flavio Lejbkowicz, Anath Flugelman, Irene L. Andrulis, Gord Glendon, Hilmi Ozcelik, Amanda E. Toland, Marco Montagna, Emma D'Andrea, Eitan Friedman, Yael Laitman, Ake Borg, Mary Beattie, Susan J. Ramus, Susan M. Domchek, Katherine L. Nathanson, Tim Rebbeck, Amanda B. Spurdle, Xiaoqing Chen, Helene Holland, Esther M. John, John L. Hopper, Saundra S. Buys, Mary B. Daly, Melissa C. Southey, Mary Beth Terry, Nadine Tung, Thomas V. Overeem Hansen, Finn C. Nielsen, Mark I. Greene, Phuong L. Mai, Ana Osorio, Mercedes Durán, Raquel Andres, Javier Benítez, Jeffrey N. Weitzel, Judy Garber, Ute Hamann, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Radka Platte, D. Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Lisa Walker, Jacqueline Eason, Julian Barwell, Andrew K. Godwin, Rita K. Schmutzler, Barbara Wappenschmidt, Stefanie Engert, Norbert Arnold, Dorothea Gadzicki, Michael Dean, Bert Gold, Robert J. Klein, Fergus J. Couch, Georgia Chenevix-Trench, Douglas F. Easton, Mark J. Daly, Antonis C. Antoniou, David M. Altshuler, Kenneth Offit
Publikováno v:
PLoS Genetics, Vol 6, Iss 11 (2010)
Externí odkaz:
https://doaj.org/article/803fb7ef4879421bbc5f5cfdf5eff4ff
Autor:
Merryn V. E. Macville, David Hunt, Richard Webster, Suzanna G.M. Frints, Alberto Fernández-Jaén, Shelagh Joss, Andrew G. L. Douglas, Margje Sinnema, Lesley M McGregor, Vera M. Kalscheuer, Abhijit Dixit, Paulien A. Terhal, Arthur Lee, Sébastien Jacquemont, Omar A. Abdul-Rahman, Peter Wieacker, Koen L.I. van Gassen, Norbert Utzig, Marcus Lee, Vanessa Suckow, Gunnar Houge, Danita Velasco, Cheryl Longman, Holly H. Zimmerman, Elizabeth C. Engle, Bryce A. Mendelsohn, Salwan Al-Nasiry, Suzanne M. Koudijs, Saskia M. Maas, Diana Baralle, Hiromi Hirata, Kees E. P. van Roozendaal, Servi J. C. Stevens, Raoul C.M. Hennekam, Roberto Colombo, Ulrike Kordaß, Gyri Aasland Gradek, Friederike Hennig
Publikováno v:
Human Mutation, 40(12), 2270-2285. Wiley-Liss Inc.
Human mutation, 40(12), 2270-2285. Wiley-Liss Inc.
Human Mutation
Human Mutation, 40(12), 2270-2285. Wiley
Human Mutation, 40(12), 2270. Wiley-Liss Inc.
Hum Mutat
Human mutation, 40(12), 2270-2285. Wiley-Liss Inc.
Human Mutation
Human Mutation, 40(12), 2270-2285. Wiley
Human Mutation, 40(12), 2270. Wiley-Liss Inc.
Hum Mutat
Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. We present genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e587a6c9800551eea35560a0b6cc9e0a
https://hdl.handle.net/11268/10551
https://hdl.handle.net/11268/10551
Autor:
Klaartje van Engelen, Rob B. van der Luijt, Janet R. Vos, Peter Devilee, Hanne Meijers-Heijboer, Arjen R. Mensenkamp, Mieke Kriege, Jan C. Oosterwijk, Marian J.E. Mourits, Geertruida H. de Bock, Natalia Teixeira, Kees E. P. van Roozendaal, Matti A. Rookus, Annemieke H. van der Hout
Publikováno v:
European Journal of Human Genetics, 26, 848-857
European Journal of Human Genetics, 26(6), 848-857. Nature Publishing Group
HEBON 2018, ' The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers : can it be explained by the mutation position? ', European Journal of Human Genetics, vol. 26, no. 6, pp. 848-857 . https://doi.org/10.1038/s41431-018-0111-9
European Journal of Human Genetics, 26(6), 848-857
European Journal of Human Genetics, 26, 6, pp. 848-857
European journal of human genetics, 26, 848-857. Nature Publishing Group
European Journal of Human Genetics, 26(6), 848-857. Nature Publishing Group
HEBON 2018, ' The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers : can it be explained by the mutation position? ', European Journal of Human Genetics, vol. 26, no. 6, pp. 848-857 . https://doi.org/10.1038/s41431-018-0111-9
European Journal of Human Genetics, 26(6), 848-857
European Journal of Human Genetics, 26, 6, pp. 848-857
European journal of human genetics, 26, 848-857. Nature Publishing Group
This observational study aimed to investigate whether the reported association between family history (FH) of breast cancer (BC) or ovarian cancer (OC) and OC risks in BRCA1/2 mutation carriers can be explained by mutation position on the gene. In to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::577453b15280490e06ee13f8513c8069
http://hdl.handle.net/2066/191973
http://hdl.handle.net/2066/191973
Autor:
Abdallah F. Elias, Helger G. Yntema, Willy M. Nillesen, Stefan H. Lelieveld, Kees E. P. van Roozendaal, Rolph Pfundt, Servi J. C. Stevens, Han G. Brunner, Jaclyn Haven, Alexander P.A. Stegmann, Anthonie J. van Essen, Conny M. A. van Ravenswaaij, Christian Gilissen
Publikováno v:
Genome Medicine, 8, 131
Genome medicine, 8:131. BMC
Genome Medicine
Genome Medicine, 8, 1, pp. 131
Genome Medicine, 8:131. BioMed Central Ltd
Genome medicine, 8:131. BMC
Genome Medicine
Genome Medicine, 8, 1, pp. 131
Genome Medicine, 8:131. BioMed Central Ltd
Contains fulltext : 168247.pdf (Publisher’s version ) (Open Access) BACKGROUND: Kruppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727788c25eb5f77b627e1dcfa50b2c64
http://hdl.handle.net/2066/168247
http://hdl.handle.net/2066/168247
Autor:
Kees E. P. van Roozendaal, Constance T.R.M. Schrander-Stumpel, Nicky S.J. Halbach, Marian A. Maaskant, Leopold M. G. Curfs, Jean-Pierre Frijns, Rien Blok, Eric Smeets, Noortje van den Braak
Publikováno v:
American Journal of Medical Genetics Part A, 158A(2), 340-350. Wiley
Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in MECP2, large retros
Autor:
Demis Tserpelis, Rita D. Brandão, Encarna B. Gomez Garcia, Marinus J. Blok, Kees E. P. van Roozendaal
Publikováno v:
Breast Cancer Research and Treatment, 129(3), 971-982. Springer, Cham
A subset of the unclassified variants (UVs) identified during genetic screening of BRCA1/2 genes may affect splicing. We assessed at RNA level the effect of four BRCA1 and ten BRCA2 UVs with a putative splice effect, as predicted in silico. The varia
Autor:
Kees E. P. van Roozendaal, Marian A. Maaskant, Philippe Collin, Leopold M.G. Curfs, Constance T.R.M. Schrander-Stumpel, H Boer, Margje Sinnema
Publikováno v:
Research in Developmental Disabilities, 32(5), 1729-1735. Elsevier Science
Previous studies have suggested an association between PWS and comorbid psychiatric illness. Data on prevalence rates of psychopathology is still scarce. This paper describes a large-scale, systematic study investigating the prevalence of psychiatric