Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Clara Ruiz-Ponte"'
Autor:
Diego Peteiro-González, Clara Ruiz-Ponte, Elvin Aliyev, José Manuel Cabezas-Agrícola, José Cameselle-Teijeiro, Rocío Villar-Taibo, Francisco Barreiro-Morandeira
Publikováno v:
Oncology Letters
The tall cell variant (TCV) of papillary thyroid carcinoma (PTC) is characterized by tall columnar cells with a height of at least three times their width. TCV usually presents at an older age, has a larger size and exhibits more extrathyroidal exten
Autor:
Elena Gallardo, Luis Bujanda, Rosa M. Xicola, Antoni Castells, María I. García, Lucía Cortejoso, Montserrat Andreu, Laia Paré, Josep-Maria Reñé, Victor Moreno, Elisabeth Guino, Ceres Fernandez-Rozadilla, David Páez, Victoria Gonzalo, Clara Ruiz-Ponte, Montserrat Baiget, Jean-Baptiste Cazier, Alejandro Brea-Fernández, Xavier Bessa, Luis A. López-Fernández, María Jesús Lamas, Xavier Llor, Dolors Gonzalez, Claire Palles, Sonia Candamio, R. Jover, Sergi Castellví-Bel, Luis Rodrigo, Goretti Duran, Marta Crous-Bou, Rafael López, Ian Tomlinson, Angel Carracedo
Publikováno v:
PHARMACOGENOMICS JOURNAL
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The development of genotyping technologies has allowed for wider screening for inherited causes of variable outcomes following drug administration. We have performed a genome-wide association study (GWAS) on 221 colorectal cancer (CRC) patients that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfee7bb772359573fde439ee1248eb3e
https://ora.ox.ac.uk/objects/uuid:33723795-f3a8-4604-84a3-ecfe2d1726be
https://ora.ox.ac.uk/objects/uuid:33723795-f3a8-4604-84a3-ecfe2d1726be
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:
Rodrigo Jover, Antoni Castells, Rosa M. Xicola, Jenifer Muñoz, Montserrat Andreu, María Dolores Giráldez, Sergi Castellví-Bel, Clara Ruiz-Ponte, Alejandro Brea-Fernández, Angel Carracedo, Ceres Fernandez-Rozadilla, Xavier Llor, Marta Ferro, Josep M. Piqué, Xavier Bessa, Anna Abulí
Publikováno v:
Mutagenesis. 27:153-159
The EPICOLON consortium was initiated in 1999 by the Gastrointestinal Oncology Group of the Spanish Gastroenterology Association. It recruited consecutive, unselected, population-based colorectal cancer (CRC) cases and control subjects matched by age
Autor:
María Luisa De-Castro, Lucía Pérez-Carbonell, Virginia Piñol, Carla Guarinos, Rosa M. Xicola, Xavier Bessa, Artemio Payá, Maria Rodriguez-Soler, Cecilia Egoavil, Adela Castillejo, Antoni Castells, Cristina Sanchez-Fortun, Montserrat Andreu, Sergi Castellví-Bel, Cristina Alenda, Clara Ruiz-Ponte, Rodrigo Jover, José Luis Soto, Angel Carracedo, Alejandro Brea, Xavier Llor, Nuria Acame, Víctor Manuel Barberá, Francesc Balaguer, Luis Bujanda
Publikováno v:
Gut
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Background: The selection of patients for genetic testing to rule out Lynch syndrome is currently based on fulfilment of at least one of the revised Bethesda criteria followed by mismatch repair (MMR) status analysis. A study was undertaken to compar
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:
Guy Pratt, Gunnar Juliusson, Christopher Fegan, Karin E. Smedby, Chris Pepper, Jesper Jurlander, Mahmoud Mansouri, María Dolores Torres, Tryfonia Mainou-Fowler, Nicola J. Sunter, Daniel Catovsky, David Allsup, Geoffrey Summerfield, David Oscier, Angel Carracedo, Claire Dearden, Sara E. Dobbins, Richard S. Houlston, Andrew R. Pettitt, Estella Matutes, Graham Jackson, Martin J. S. Dyer, James M. Allan, Peter Broderick, James R. Bailey, Maria Chiara Di Bernardo, Dalemari Crowther-Swanepoel, Richard Rosenquist, Anton Parker, Anna Enjuanes, Emilio Montserrat, Clara Ruiz-Ponte, Elias Campo, Robert J. Harris, Andrew G. Hall
Publikováno v:
Nature genetics
To identify new risk variants for chronic lymphocytic leukemia (CLL), we conducted a genome-wide association study of 299,983 tagging SNPs, with validation in four additional series totaling 2,503 cases and 5,789 controls. We identified four new risk
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:
Cristina Alenda, Rodrigo Jover, José Luis Soto, Zaida García-Casado, Víctor Manuel Barberá, Lucía Pérez-Carbonell, Antoni Castells, Cecilia Egoavil, Miriam Juárez, Eva Hernández-Illán, Maria Rodriguez-Soler, Alejandro Brea-Fernández, Xavier Llor, María Isabel Castillejo, Luis Bujanda, Carla Guarinos, Artemio Payá, Angel Carracedo, Montserrat Andreu, María José Juan, Adela Castillejo, Eduardo Martínez-de-Dueñas, Clara Ruiz-Ponte, Ana Beatriz Sánchez-Heras, Juan Clofent
Publikováno v:
JOURNAL OF MEDICAL GENETICS
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
J MED GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
J MED GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
r-FISABIO. Repositorio Institucional de Producción Científica
Background The prevalence of MLH1 constitutional epimutations in the general population is unknown. We sought to analyse the prevalence of MLH1 constitutional epimutations in unselected and selected series of patients with colorectal cancer (CRC). Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94203adece934063b72d8b9af0d299e2
https://hdl.handle.net/10045/58329
https://hdl.handle.net/10045/58329
Autor:
Clara Ruiz-Ponte, Ana Vega, Francisco Barros, María Dolores Torres, Angel Carracedo, Jose Ignacio Martínez
Publikováno v:
Annals of Human Genetics. 66:29-36
An estimated 5-10% of all breast and ovarian cancers are due to an inherited predisposition, representing a rather large number of patients. In Spain 1/13-1/14 women will be diagnosed with breast cancer during their lifetime. Two major breast cancer