Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Clara Ruiz-Ponte"'
Autor:
Arantza Farina Sarasqueta, Tom van Wezel, Clara Ruiz-Ponte, Stephanie A. Schubert, Juul T. Wijnen, Sergi Castellví-Bel, Rolf H. Sijmons, Hans Morreau, Bruce H. R. Wolffenbuttel, Stijn Crobach, Melanie M. van der Klauw, Arnoud Boot, Jan Oosting, Noel F C C de Miranda, Fadwa A. Elsayed, Frederik J. Hes, Hans F. A. Vasen, Maartje Nielsen, Pavel Vodicka, Rolf H. A. M. Vossen, Carli M. J. Tops, Ronald van Eijk, Malcolm G. Dunlop, Ian Tomlinson, Dina Ruano
Publikováno v:
British Journal of Cancer
Schubert, S A, Ruano, D, Elsayed, F A, Boot, A, Crobach, S, Sarasqueta, A F, Wolffenbuttel, B, van der Klauw, M M, Oosting, J, Tops, C M, van Eijk, R, Vasen, H F, Vossen, R H, Nielsen, M, Castellví-Bel, S, Ruiz-Ponte, C, Tomlinson, I, Dunlop, M G, Vodicka, P, Wijnen, J T, Hes, F J, Morreau, H, de Miranda, N F, Sijmons, R H & van Wezel, T 2017, ' Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia ', British Journal of Cancer . https://doi.org/10.1038/bjc.2017.240
British Jounal of Cancer, 117(8), 1215-1223. Nature Publishing Group
British Journal of Cancer, 117(8), 1215-1223
British journal of cancer, 117(6), 876-884. Nature Publishing Group
Schubert, S A, Ruano, D, Elsayed, F A, Boot, A, Crobach, S, Sarasqueta, A F, Wolffenbuttel, B, van der Klauw, M M, Oosting, J, Tops, C M, van Eijk, R, Vasen, H F, Vossen, R H, Nielsen, M, Castellví-Bel, S, Ruiz-Ponte, C, Tomlinson, I, Dunlop, M G, Vodicka, P, Wijnen, J T, Hes, F J, Morreau, H, de Miranda, N F, Sijmons, R H & van Wezel, T 2017, ' Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia ', British Journal of Cancer . https://doi.org/10.1038/bjc.2017.240
British Jounal of Cancer, 117(8), 1215-1223. Nature Publishing Group
British Journal of Cancer, 117(8), 1215-1223
British journal of cancer, 117(6), 876-884. Nature Publishing Group
BACKGROUND: A substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify predisposing loci in patients with these disorders.METHODS: Homozygosity mapping was performed using 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c27b339caa03287c7a985f07c59a3502
https://hdl.handle.net/1887/115104
https://hdl.handle.net/1887/115104
Autor:
Manuela Pinheiro, Manuel R. Teixeira, Helga Westers, Tom van Wezel, D. Timothy Bishop, Kari Hemminki, Emma Northwood, Daniel Chubb, Ben Kinnersley, Richard S. Houlston, Robert M.W. Hofstra, Clemens Schafmayer, Claire Palles, Jochen Hampe, Susan M. Farrington, Malcolm G. Dunlop, Matthew Frampton, Clara Ruiz-Ponte, Maria Timofeeva, Asta Försti, Sara E. Dobbins, Ian Tomlinson, Stephan Buch, Sergi Castellví-Bel
Publikováno v:
Nature Communications
Nature Communications, Vol 7, Iss 1, Pp 1-3 (2016)
Nature Communications, 7:10611. Nature Publishing Group
Nature Communications, 7
Nature Communications, Vol 7, Iss 1, Pp 1-3 (2016)
Nature Communications, 7:10611. Nature Publishing Group
Nature Communications, 7
Sill and co-workers1 report that germline variation in semaphorin 4A (SEMA4A) influences colorectal cancer (CRC) risk. This stems from identifying the SEMA4A p.Val78Met variant in one kindred with familial colorectal cancer type X (FCCTX) and subsequ
Autor:
Graham Casey, Henry Völzke, Hermann Brenner, Thomas J. Hudson, Albert Tenesa, David J. Kerr, Clara Ruiz-Ponte, Stephane Ballereau, Luis G. Carvajal-Carmona, Anna Abulí, Jenny Chang-Claude, Lynn Martin, Maggie Gorman, Clemens Schafmayer, Steven Gallinger, John L. Hopper, Ian Tomlinson, Iina Niittymäki, Richard S. Houlston, Simone Picelli, Ella Barclay, Jochen Hampe, Xavier Bessa, Alan M. Pittman, Lauri A. Aaltonen, Susanna von Holst, Auli Karhu, Brent W. Zanke, Malcolm G. Dunlop, Michael Hoffmeister, Polly A. Newcomb, Harry Campbell, Steven Penegar, Sari Tuupanen, Steven J. Lubbe, Annika Lindblom, Axel Walther, Ian Chandler, David Duggan, Paul D.P. Pharoah, Peter Broderick, Mark A. Jenkins, Sergi Castellví-Bel, Susan M. Farrington, David H. Brewster, Thibaud Koessler
Publikováno v:
Gut. 62:871-881
OBJECTIVE: Colorectal cancer (CRC) has a substantial heritable component. Common genetic variation has been shown to contribute to CRC risk. A study was conducted in a large multi-population study to assess the feasibility of CRC risk prediction usin
Autor:
Frederik J. Hes, Richard S. Houlston, Ceres Fernandez-Rozadilla, Maggie Gorman, Harry Campbell, Ben Kinnersley, Albert Tenesa, Carli M. J. Tops, Melanie Schrumpf, Nicola Whiffin, Asta Försti, D. Timothy Bishop, Ella Barclay, Robert M.W. Hofstra, Fay J. Hosking, L. Y. Ooi, Claire Smillie, Graeme R. Grimes, Caroline Hayward, Arnoud Boot, Amy Lloyd, Stephan Buch, Manuela Pinheiro, Sara E. Dobbins, Clemens Schafmayer, Jennifer H. Barrett, Kari Hemminki, Helga Westers, Tom van Wezel, David J. Porteous, Archie Campbell, Sergi Castellví-Bel, Carla M. A. Pinto, Evropi Theodoratou, Lina Zgaga, Antoni Castells, Roland Wolf, Juul T. Wijnen, Hans Morreau, Peter Broderick, Susan M. Farrington, Victoria Svinti, Sarah E. Harris, Emma Northwood, Angel Carracedo, Andre Franke, Lynn Martin, Gillian Smith, Peter Propping, David Forman, Hans F. A. Vasen, Malcolm G. Dunlop, Ian Tomlinson, Dina Ruano, Wolgang Lieb, Claire Palles, Manuel R. Teixeira, Ian J. Deary, Clara Ruiz-Ponte, Maria Timofeeva, Jochen Hampe
Publikováno v:
Scientific Reports, 5
Scientific Reports
Scientific Reports, 5:16286. Nature Publishing Group
Scientific Reports, 5. Nature Publishing Group
Timofeeva, M N, Kinnersley, B, Farrington, S M, Whiffin, N, Palles, C, Svinti, V, Lloyd, A, Gorman, M, Ooi, L, Hosking, F, Barclay, E, Zgaga, L, Dobbins, S, Martin, L, Theodoratou, E, Broderick, P, Tenesa, A, Smillie, C, Grimes, G, Hayward, C, Campbell, A, Porteous, D, Deary, I J, Harris, S E, Northwood, E L, Barrett, J H, Smith, G, Wolf, R, Forman, D, Morreau, H, Ruano, D, Tops, C, Wijnen, J, Schrumpf, M, Boot, A, Vasen, H F A, Hes, F J, Van Wezel, T, Franke, A, Lieb, W, Schafmayer, C, Hampe, J, Buch, S, Propping, P, Hemminki, K, F??rsti, A, Westers, H, Hofstra, R, Pinheiro, M, Pinto, C, Teixeira, M, Ruiz-ponte, C, Fern??ndez-rozadilla, C, Carracedo, A, Castells, A, Castellv??-bel, S, Campbell, H, Bishop, D T, Tomlinson, I P M, Dunlop, M G & Houlston, R S 2015, ' Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ', Scientific Reports, vol. 5, pp. 16286 . https://doi.org/10.1038/srep16286
Scientific Reports
Scientific Reports, 5:16286. Nature Publishing Group
Scientific Reports, 5. Nature Publishing Group
Timofeeva, M N, Kinnersley, B, Farrington, S M, Whiffin, N, Palles, C, Svinti, V, Lloyd, A, Gorman, M, Ooi, L, Hosking, F, Barclay, E, Zgaga, L, Dobbins, S, Martin, L, Theodoratou, E, Broderick, P, Tenesa, A, Smillie, C, Grimes, G, Hayward, C, Campbell, A, Porteous, D, Deary, I J, Harris, S E, Northwood, E L, Barrett, J H, Smith, G, Wolf, R, Forman, D, Morreau, H, Ruano, D, Tops, C, Wijnen, J, Schrumpf, M, Boot, A, Vasen, H F A, Hes, F J, Van Wezel, T, Franke, A, Lieb, W, Schafmayer, C, Hampe, J, Buch, S, Propping, P, Hemminki, K, F??rsti, A, Westers, H, Hofstra, R, Pinheiro, M, Pinto, C, Teixeira, M, Ruiz-ponte, C, Fern??ndez-rozadilla, C, Carracedo, A, Castells, A, Castellv??-bel, S, Campbell, H, Bishop, D T, Tomlinson, I P M, Dunlop, M G & Houlston, R S 2015, ' Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ', Scientific Reports, vol. 5, pp. 16286 . https://doi.org/10.1038/srep16286
Whilst common genetic variation in many non-coding genomic regulatory regions are known to impart risk of colorectal cancer (CRC), much of the heritability of CRC remains unexplained. To examine the role of recurrent coding sequence variation in CRC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9238dafb31e9af55e1a3a42fc1fdfb4
Autor:
Stefan Schreiber, Markus M. Lerch, Malcolm G. Dunlop, T. van Wezel, Albert Tenesa, Paul D.P. Pharoah, S. Tuupanenx, Clemens Schafmayer, Jwc Ho, Pavel Vodicka, Rodney J. Scott, Koichi Matsuda, Brent W. Zanke, Jochen Hampe, Stephan Buch, Luis G. Carvajal-Carmona, Paolo Radice, Steven Penegar, Lara Lipton, Asta Försti, Magdalena Echeverry, Henry Völzke, Ian Tomlinson, Juul T. Wijnen, Pak C. Sham, Harry Campbell, C. A. Schmidt, Antoni Castells, Robert M.W. Hofstra, Thibaud Koessler, Yusuke Nakamura, Hans Morreau, Hermann Brenner, Annika Lindblom, I. Niittymäkix, Steve Gallinger, Oliver M. Sieber, Victor Moreno, Peter Devilee, Cristina M. Villanueva, Lauri A. Aaltonen, Angel Carracedo, Peter Broderick, Sergi Castellví-Bel, Jürgen Tepel, Paolo Peterlongo, Kari Hemminki, Richard S. Houlston, Alejandro Vélez, Thomas J. Hudson, Clara Ruiz-Ponte
Publikováno v:
Tomlinson, I P M, Dunlop, M, Campbell, H, Zanke, B, Gallinger, S, Hudson, T, Koessler, T, Pharoah, P D, Niittymaki, I, Tuupanen, S, Aaltonen, L A, Hemminki, K, Lindblom, A, Forsti, A, Sieber, O, Lipton, L, van Wezel, T, Morreau, H, Wijnen, J T, Devilee, P, Matsuda, K, Nakamura, Y, Castellvi-Bel, S, Ruiz-Ponte, C, Castells, A, Carracedo, A, Ho, J W C, Sham, P, Hofstra, R M W, Vodicka, P, Brenner, H, Hampe, J, Schafmayer, C, Tepel, J, Schreiber, S, Volzke, H, Lerch, M M, Schmidt, C A, Buch, S, Moreno, V, Villanueva, C M, Peterlongo, P, Radice, P, Echeverry, M M, Velez, A, Carvajal-Carmona, L, Scott, R, Penegar, S, Broderick, P, Tenesa, A & Houlston, R S 2010, ' COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer ', British Journal of Cancer, vol. 102, no. 2, pp. 447-454 . https://doi.org/10.1038/sj.bjc.6605338
Europe PubMed Central
British journal of cancer, vol 102, iss 2
British Journal of Cancer
British Journal of Cancer, 102(2), 447-454
Recercat. Dipósit de la Recerca de Catalunya
instname
British Journal of Cancer; Vol 102
British Jounal of Cancer, 102(2), 447-454. Nature Publishing Group
Dipòsit Digital de la UB
Universidad de Barcelona
Europe PubMed Central
British journal of cancer, vol 102, iss 2
British Journal of Cancer
British Journal of Cancer, 102(2), 447-454
Recercat. Dipósit de la Recerca de Catalunya
instname
British Journal of Cancer; Vol 102
British Jounal of Cancer, 102(2), 447-454. Nature Publishing Group
Dipòsit Digital de la UB
Universidad de Barcelona
It is now recognised that a part of the inherited risk of colorectal cancer (CRC) can be explained by the co-inheritance of low-penetrance genetic variants. The accumulated experience to date in identifying these variants has served to highlight diff
Autor:
Lara Lipton, Amy Price, Enric Domingo, Trinidad Caldés, Gianluca Severi, Emma Jaeger, Sarah Fielding, Auli Karhu, José M. Ladero, Alan M. Pittman, David J. Kerr, Axel Walther, Mobshra Qureshi, Ian Tomlinson, Sergi Castellví-Bel, King Yip Cheng, Miguel de la Hoya, Wendy Wood, Emily L. Webb, John M. Luk, G Evans, Philip Twiss, Timothy Bishop, Hans Morreau, Steven Penegar, Pak C. Sham, Angel Carracedo, Melissa C. Southey, Eamonn R. Maher, Maria Chiara Di Bernardo, Sarah L. Spain, Julian Peto, Anneke Lucassen, Kari Hemminki, Lynn Martin, Richard Gray, Ian Chandler, Luis G. Carvajal-Carmona, Jean-Baptiste Cazier, Steven J. Lubbe, Kimberley Howarth, Richard S. Houlston, Graham G. Giles, Maggie Gorman, Kate Sullivan, Zoe Kemp, Pavel Vodicka, Judy W. C. Ho, Lauri A. Aaltonen, Clara Ruiz-Ponte, Jayaram Vijayakrishnan, Asta Försti, Huw Thomas, Alessio Naccarati, Peter Broderick, Juul T. Wijnen, Antoni Castells, Tom van Wezel, John L. Hopper, Iina Niittymäki, José A. G. Agúndez, Sari Tuupanen, Andrew Rowan, Ella Barclay
Publikováno v:
Human Molecular Genetics. 17:3720-3727
The common single-nucleotide polymorphism (SNP) rs3802842 at 11q23.1 has recently been reported to be associated with risk of colorectal cancer (CRC). To examine this association in detail we genotyped rs3802842 in eight independent case-control seri
Autor:
Cristina Alenda, Rosa M. Xicola, Rodrigo Jover, Rafael de Cid, Xavier Bessa, Artemio Payá, Montserrat Andreu, Antoni Castells, Josep M. Piqué, Clara Ruiz-Ponte, Jenifer Muñoz, Victoria Gonzalo, Elisenda Pons, Angel Carracedo, Francesc Balaguer, Xavier Llor, Sergi Castellví-Bel
Publikováno v:
Carcinogenesis. 28:1687-1691
ARLTS1 was recently identified in chromosome 13q14 as a tumor suppressor gene of the ADP-ribosylation factor family with pro-apoptotic characteristics. Additionally, one of its genetic variants (W149X) was hypothesized to be a polymorphism associated
Autor:
Juan Clofent, Josep M. Piqué, Maria Rodriguez-Soler, Francesc Balaguer, Clara Ruiz-Ponte, Joaquín Cubiella, Rodrigo Jover, Juan José Lozano, Luis Bujanda, David Nicolás-Pérez, Xavier Bessa, Jenifer Muñoz, Antoni Castells, Rosa M. Xicola, Josep Maria Reñe, Anna Abulí, Clara Esteban-Jurado, Angel Carracedo, Montserrat Andreu, Sergi Castellví-Bel, Xavier Llor, Ceres Fernandez-Rozadilla, Juan Diego Morillas
Publikováno v:
Carcinogenesis. 34(10)
Colorectal cancer (CRC) is the second leading cause of cancer-related death among men and women in Western countries. Once a tumour develops, a differentiated prognosis could be determined by lifestyle habits or inherited and somatic genetic factors.
Autor:
Rosa M. Xicola, Xavier Bessa, Xavier Llor, Juan Clofent, Luis G. Carvajal-Carmona, Angel Carracedo, Claire Palles, Rodrigo Jover, Montserrat Andreu, Ceres Fernandez-Rozadilla, Ian Tomlinson, Montserrat Baiget, Antoni Castells, Sergi Castellví-Bel, Jean-Baptiste Cazier, María Jesús Lamas, Dolors Gonzalez, Luis A. López-Fernández, Victor Moreno, Alejandro Brea-Fernández, Luis Bujanda, Clara Ruiz-Ponte, Anna Abulí
Publikováno v:
BMC genomics, vol 14, iss 1
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Addi. Archivo Digital para la Docencia y la Investigación
instname
Recercat. Dipósit de la Recerca de Catalunya
BMC Genomics
BMC GENOMICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Dipòsit Digital de la UB
Universidad de Barcelona
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Addi. Archivo Digital para la Docencia y la Investigación
instname
Recercat. Dipósit de la Recerca de Catalunya
BMC Genomics
BMC GENOMICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Dipòsit Digital de la UB
Universidad de Barcelona
Background: Colorectal cancer (CRC) is a disease of complex aetiology, with much of the expected inherited risk being due to several common low risk variants. Genome-Wide Association Studies (GWAS) have identified 20 CRC risk variants. Nevertheless,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf4bc4b6080228a9f39d00c529bc1b5
https://escholarship.org/uc/item/9z6163kh
https://escholarship.org/uc/item/9z6163kh
Autor:
María Dolores, Giráldez, Adriana, López-Dóriga, Luis, Bujanda, Anna, Abulí, Xavier, Bessa, Ceres, Fernández-Rozadilla, Jenifer, Muñoz, Miriam, Cuatrecasas, Rodrigo, Jover, Rosa M, Xicola, Xavier, Llor, Josep M, Piqué, Angel, Carracedo, Clara, Ruiz-Ponte, Angel, Cosme, José María, Enríquez-Navascués, Victor, Moreno, Montserrat, Andreu, Antoni, Castells, Francesc, Balaguer, Sergi, Castellví-Bel, Antonio, Naranjo
Publikováno v:
Publons
Colorectal cancer (CRC) is the second most common cancer in Western countries. Hereditary forms only correspond to 5% of CRC burden. Recently, genome-wide association studies have identified common low-penetrant CRC genetic susceptibility loci. Early