Zobrazeno 1 - 10 of 23 pro vyhledávání: '"Danielle Bodmer"'
1
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome
Autor: Mieke M. van Haelst, Rutger A.J. Nievelstein, Stephen P. Robertson, Milan Rimac, Danielle Bodmer, Michael T. Gabbett, Minna Nyström, Annekatrin Wernstedt, Johan Offerhaus, Birgit Krabichler, Johannes Zschocke, Martine Raphael, Katharina Wimmer, Minttu Kansikas, Wayne Nicholls, Ulrich Strasser, Annette F. Baas
Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 21(1), 55-61. Nature Publishing Group
Baas, A F, Gabbett, M, Rimac, M, Kansikas, M, Raphael, M, Nievelstein, R A, Nicholls, W, Offerhaus, J, Bodmer, D, Wernstedt, A, Krabichler, B, Strasser, U, Nyström, M, Zschocke, J, Robertson, S P, van Haelst, M M & Wimmer, K 2013, ' Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome ', European Journal of Human Genetics, vol. 21, no. 1, pp. 55-61 . https://doi.org/10.1038/ejhg.2012.117
European journal of human genetics, 21(1), 55-61. Nature Publishing Group
Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::811d7648984e4a2c4bd71f4755cb7893
https://doi.org/10.1038/ejhg.2012.117
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3
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers
Autor: Danielle Bodmer, C.A. Hulsbergen-van de Kaa, J.H.J.M. van Krieken, J.A. Witjes, Lambertus A. Kiemeney, Carolien M. Kets, Nicoline Hoogerbrugge, M.J.L. Ligtenberg, L Schaap, R S van der Post
Publikováno v: Journal of Medical Genetics, 47, 7, pp. 464-70
Journal of Medical Genetics, 47, 464-70
Journal of Medical Genetics
Contains fulltext : 89346.pdf (Publisher’s version ) (Open Access) BACKGROUND: Colorectal, endometrial and upper urinary tract tumours are characteristic for Lynch syndrome (hereditary non-polyposis colon carcinoma, HNPCC). The aim of the present s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7670322e107bcf8d0a3f62a3299e0462
https://hdl.handle.net/2066/89346
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4
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene
Autor: Danielle Bodmer, Berry H.P. Kremer, Rowdy Meijer, Sascha Vermeer, Tom G.J. Hofste, Frans P.M. Cremers, Hans Scheffer, Ermanno A.J. Bosgoed, Nine V A M Knoers
Publikováno v: The Journal of Molecular Diagnostics; Vol 11
Journal of Molecular Diagnostics, 11, 514-23
Journal of Molecular Diagnostics, 11, 6, pp. 514-23
Journal of Molecular Diagnostics, 11, 514-523
NARCIS
Digital Repository Infrastructure Vision for European Research
HEALTH FP7 Publications Database
Europe PubMed Central
Journal of molecular diagnostics, 11(6), 514-523. ELSEVIER SCIENCE INC
Contains fulltext : 80180.pdf (Publisher’s version ) (Open Access) In this study, we developed and analytically validated a fully automated, robust confirmation sensitive capillary electrophoresis (CSCE) method to perform mutation scanning of the l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70ab09fa7657af768d52b54fd9ac226a
https://research.rug.nl/en/publications/f626713b-1787-4ce1-aa21-11d2c256e438
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5
Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of ‘easy to apply' probability models
Autor: S Gloudemans, Nicoline Hoogerbrugge, Jan C. Oosterwijk, Danielle Bodmer, K Ansink, AH van der Hout, M.J.L. Ligtenberg
Publikováno v: British Journal of Cancer
British Journal of Cancer, 95, 6, pp. 757-62
British Journal of Cancer, 95, 757-62
British Jounal of Cancer, 95(6), 757-762. Nature Publishing Group
Contains fulltext : 49625.pdf (Publisher’s version ) (Closed access) To establish an efficient, reliable and easy to apply risk assessment tool to select families with breast and/or ovarian cancer patients for BRCA mutation testing, using available
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c91cb990bb38281963a634238ccc915
http://europepmc.org/articles/PMC2360521
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6
Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13∼q22 breakpoints
Autor: Ad Geurts van Kessel, Y. M. H. Jonkers, Maria Debiec-Rychter, Trijnie Dijkhuizen, Eric F.P.M. Schoenmakers, Danielle Bodmer, Irene M. Janssen, Eva van den Berg
Publikováno v: Cancer Genetics and Cytogenetics. 136:95-100
We describe several relatives within one renal cell cancer (RCC) family sharing a constitutional t(2;3) (q35;q21). Based on molecular studies on several independent primary tumors in this family, a causative role for this translocation in tumor devel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6c22d7d51bd69c90191f64e1d002844a
https://doi.org/10.1016/s0165-4608(02)00517-4
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8
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
Autor: Thomas v O Hansen, Amanda B. Spurdle, Anne-Marie Gerdes, Sue Healey, Per Karlsson, Tomasz Huzarski, Mary B. Daly, Mary Porteous, T. Caldes, Ulf Kristoffersson, Ignacio Blanco, A. Miron, Laurence Faivre, Barbara Wappenschmidt, Laurence Venat-Bouvet, Marie Stenmark Askmalm, Olga M. Sinilnikova, Susan Peock, Alessandra Viel, Conxi Lázaro, Katherine L. Nathanson, Laurent Castera, Douglas F. Easton, Susan L. Neuhausen, Jan Lubinski, Phuong L. Mai, Virginie Moncoutier, Paolo Radice, Heli Nevanlinna, Christi J Asperen, Xianshu Wang, Brita Arver, Christian Sutter, Senno Verhoef, Rosette Lidereau, Mary S Beattie, Bjarni A Agnarsson, Ina Ruehl, Monica Barile, Bent Ejlertsen, Laura Ottini, Catherine Noguès, Jennifer A. Przybylo, Cinzia Casella, Trevor Cole, Norbert Arnold, Sandra Fert-Ferrer, Hilmi Ozcelik, Irene L. Andrulis, Susan M. Domchek, Valérie Bonadona, Kirsten B. Moysich, David E. Goldgar, Anna Jakubowska, Paul D.P. Pharoah, Beth Y. Karlan, Jenny Gross, Gaia Roversi, Tadeusz Dębniak, Hanne Meijers-Heijboer, Susan J. Ramus, Dorthe G. Crüger, Zachary S. Fredericksen, Siranoush Manoukian, Viviana Gismondi, Maria A. Caligo, Helene Holland, Laure Barjhoux, Gord Glendon, Ana Osorio, Jacques Simard, John L. Hopper, Mercedes Durán, Kristiina Aittomäki, Håkan Olsson, Mads Thomassen, Fabio Capra, Patrick J. Morrison, Britta Fiebig, Mary Beth Terry, Marinus J. Blok, Evgeny N. Imyanitov, Joseph Vijai, Javier Benitez, Mark T. Rogers, D. Gareth Evans, Helmut Deissler, Tomasz Byrski, Sylvie Mazoyer, Laura Papi, Dominique Stoppa-Lyonnet, Marco Montagna, Kenneth Offit, Cezary Cybulski, Dominique Leroux, Georgia Chenevix-Trench, Danielle Bodmer, Lucy Side, Margaret Cook, Ros Eeles, Alan Donaldson, Christiana Kartsonaki, Carole Brewer, Matti A. Rookus, Jacek Gronwald, Dorothea Gadzicki, Shirley Hodgson, Jonathan Beesley, Gabriella Pichert, Andrew K. Godwin, Dieter Niederacher, Yuan Chun Ding, Torben A Kruse, Paolo Peterlongo, Rita K. Schmutzler, Xiaoqing Chen, Annika Lindblom, Fergus J. Couch, Maaike P.G. Vreeswijk, Mark H. Greene, Esther M. John, Raymonda Varon-Mateeva, Simon A. Gayther, Margreet G. E. M. Ausems, Tomas Kirchhoff, Lars Jønson, Madeleine M. A. Tilanus-Linthorst, Ute Hamann, Marie-Agnès Collonge-Rame, Antonis C. Antoniou, M John Kennedy, Karin Kast, Theo A. M. van Os, Penny Soucy, Debra Frost, Alison M. Dunning, Daniela Zaffaroni, Anna Allavena, Maria-Isabel Tejada, Yves-Jean Bignon, Lesley McGuffog, Bohdan Górski, Åke Borg, Fabienne Prieur, Bernard Peissel, Helen Gregory, Clare Oliver, Saundra S. Buys, Ana Dutra-Clarke, Alfons Meindl, Ramunas Janavicius, Uffe Birk Jensen, Miguel de la Hoya
Publikováno v: JOURNAL OF THE NATIONAL CANCER INSTITUTE, 103(2), 105-116. Oxford University Press
Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X Q, McGuffog, L, Healey, S, Couch, F J, Wang, X S, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A M, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Askmalm, M S, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Domchek, S M, Jakubowska, A, Lubinski, J, Huzarski, T, Byrski, T, Gronwald, J, Gorski, B, Cybulski, C, Debniak, T, Osorio, A, Duran, M, Tejada, M I, Benitez, J, Hamann, U, Rookus, M A, Verhoef, S, Tilanus-Linthorst, M A, Vreeswijk, M P, Bodmer, D, Ausems, M G E M, Os, T A, van Asperen, C J, Blok, M J, Meijers-Heijboer, E J, Peock, S, Cook, M, Oliver, C, Frost, D, Dunning, A M, Evans, D G, Eeles, R, Pichert, G, Cole, T, Hodgson, S, Brewer, C, Morrison, P J, Porteous, M, Kennedy, M J, Rogers, M T, Side, L E, Donaldson, A, Gregory, H, Godwin, A, Stoppa-Lyonnet, D, Moncoutier, V, Castera, L, Mazoyer, S, Barjhoux, L, Bonadona, V, Leroux, D, Faivre, L, Lidereau, R & Nogues, C 2011, ' Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers ', Journal of the National Cancer Institute, vol. 103, no. 2, pp. 105-116 . https://doi.org/10.1093/jnci/djq494
Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X, McGuffog, L, Healey, S, Couch, F J, Wang, X, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A-M A, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P W, Stenmark Askmalm, M, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Frost, D, Hansen, T V O, Holland, H & OCGN 2011, ' Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers ', Journal of the National Cancer Institute, vol. 103, no. 2, pp. 105-16 . https://doi.org/10.1093/jnci/djq494
University of Manchester-PURE
Journal of the National Cancer Institute
Journal of the National Cancer Institute, 2011, 103, pp.1-13
Journal of the National Cancer Institute, 103(2). Oxford University Press
JNCI: Journal of the National Cancer Institute
JNCI: Journal of the National Cancer Institute, 2011, 103, pp.1-13. ⟨10.1093/jnci/djq494⟩
Digital.CSIC. Repositorio Institucional del CSIC
instname
Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X, McGuffog, L, Healey, S, Couch, F J, Wang, X, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A-M, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Stenmark Askmalm, M, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Domchek, S M, Jakubowska, A, Lubinski, J, Huzarski, T & OCGN 2011, ' Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers ', National Cancer Institute. Journal
, vol. 103, no. 2, pp. 105-116 . https://doi.org/10.1093/jnci/djq494
Journal of the National Cancer Institute, 103(2), 105-116. Oxford University Press
[Background]: Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf6585e461a42f7e37cbee4d0997795
http://hdl.handle.net/10281/28431
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9
Recurrence and Variability of Germline EPCAM Deletions in Lynch Syndrome
Autor: Ramprasath Venkatachalam, Aline Haufe, Tracy Graham, Marielle E. van Gijn, Frans B. L. Hogervorst, Beate Betz, Hans K. Schackert, Lisenka E.L.M. Vissers, Matthias Kloor, Carli M. J. Tops, Iris D. Nagtegaal, Tsun Leung Chan, Verena Steinke, Julie O. Culver, J. Han van Krieken, Eveline J. Kamping, Elke Holinski-Feder, Nicoline Hoogerbrugge, Eveline Hoenselaar, Ans M.W. van den Ouweland, Renee C. Niessen, Nils Rahner, Monique Goossens, Danielle Bodmer, Monika Morak, Johan J.P. Gille, Marjolijn J L Ligtenberg, David J. Bunyan, Roland P. Kuiper, Ad Geurts van Kessel, Susanne Stemmler, Philip Kahl, Sapna Syngal, Pierre Hutter, B. Redeker
Publikováno v: Kuiper, R P, Vissers, L E L M, Venkatachalam, R, Bodmer, D, Hoenselaar, E, Goossens, M, Haufe, A, Kamping, E, Niessen, R C, Hogervorst, F B L, Gille, J J P, Redeker, B, Tops, C M J, van Gijn, M E, van den Ouweland, A M W, Rahner, N, Steinke, V, Kahl, P, Holinski-Feder, E, Morak, M, Kloor, M, Stemmler, S, Betz, B, Hutter, P, Bunyan, D J, Syngal, S, Culver, J O, Graham, T, Chan, T L, Nagtegaal, I D, van Krieken, J H J M, Schackert, H K, Hoogerbrugge, N, van Kessel, A G & Ligtenberg, M J L 2011, ' Recurrence and Variability of Germline EPCAM Deletions in Lynch Syndrome ', Human Mutation, vol. 32, no. 4, pp. 407-414 . https://doi.org/10.1002/humu.21446
Human Mutation, 32(4), 407-414. Wiley
Human Mutation
Human Mutation, Wiley, 2011, 32 (4), pp.407. ⟨10.1002/humu.21446⟩
Human Mutation, 32, 407-14
Human Mutation, 32(4), 407-414. Wiley-Liss Inc.
Human Mutation, 32, 4, pp. 407-14
Human Mutation, 32(4), 407-414
Human mutation, 32(4), 407-414. Wiley-Liss Inc.
Contains fulltext : 96266.pdf (Publisher’s version ) (Closed access) Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele-specific epigenetic silencing of the n
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd9f0a3462e34cfe5b79e413b8e9225
https://research.vumc.nl/en/publications/3046c84c-09af-4327-8073-c1bd009a1583
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10
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1
Autor: Wai Yin Tsui, Tsun Leung Chan, Marsha Voorendt, Nicoline Hoogerbrugge, Suet Yi Leung, Monique Goossens, Sandra J B Hendriks-Cornelissen, Chi Kwan Kong, Han G. Brunner, Danielle Bodmer, Ad Geurts van Kessel, Tracy Y H Lee, Konnie M. Hebeda, J. Han van Krieken, Eveline Hoenselaar, Roland P. Kuiper, Siu Tsan Yuen, Marjolijn J L Ligtenberg
Publikováno v: Nature Genetics, 41, 1, pp. 112-7
Nature Genetics, 41, 112-7
Contains fulltext : 80569.pdf (Publisher’s version ) (Closed access) Lynch syndrome patients are susceptible to colorectal and endometrial cancers owing to inactivating germline mutations in mismatch repair genes, including MSH2 (ref. 1). Here we d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe1ae8e1fefde699cf294b6995933c78
https://doi.org/10.1038/ng.283
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