Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Clara Ruiz-Ponte"'
Autor:
Temitope O. Keku, Xiangyu Ma, Ceres Fernandez-Rozadilla, Samuel Morgan, Malcolm G. Dunlop, Timothy Bishop, Mark A. Jenkins, Daniel D. Buchanan, Sergi Castellví-Bel, Xue Li, Anna H. Wu, Susan M. Farrington, Wei Zheng, Evropi Theodoratou, Victoria Svinti, Harry Campbell, Annika Lindblom, Fränzel J.B. Van Duijnhoven, Julian Little, Xiangrui Meng, Zahra Montazeri, Antoni Castells, Yazhou He, Yacong Bo, Christine Nyiraneza, Clara Ruiz-Ponte, Maria Timofeeva, Angel Carracedo
Publikováno v:
Montazeri, Z, Li, X, Nyiraneza, C, Ma, X, Timofeeva, M, Svinti MacLeod, V, Meng, X, He, Y, Bo, Y, Morgan, S, Castellví-Bel, S, Ruiz-Ponte, C, Fernandez-Rozadilla, C, Carracedo, A, Farrington, S, Dunlop, M, Campbell, H & Theodoratou, E 2019, ' Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer ', Gut . https://doi.org/10.1136/gutjnl-2019-319313
Gut
Gut, 69, 1460-1471
Gut 69 (2020)
Gut
Gut, 69, 1460-1471
Gut 69 (2020)
ObjectiveTo provide an understanding of the role of common genetic variations in colorectal cancer (CRC) risk, we report an updated field synopsis and comprehensive assessment of evidence to catalogue all genetic markers for CRC (CRCgene2).DesignWe i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a5a6ac37bf3024365fd99751068c87a
https://hdl.handle.net/20.500.11820/01c8812b-5197-4d67-8343-ba4ea53e3df0
https://hdl.handle.net/20.500.11820/01c8812b-5197-4d67-8343-ba4ea53e3df0
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:
Consuelo Calviño-Costas, Sahra Bodo, Ceres Fernandez-Rozadilla, Martine Muleris, Esther Schamschula, Anael López-Novo, A. Lancho, Clara Ruiz-Ponte, Katharina Wimmer, Xabier Bello, José Manuel Cameselle-Teijeiro, Angel Carracedo, Miriam Alvarez-Barona, Jorge Amigo, Chrystelle Colas, A Dacal
Publikováno v:
Cancers
Cancers, MDPI, 2019, 11 (8), pp.1081. ⟨10.3390/cancers11081081⟩
Cancers, Vol 11, Iss 8, p 1081 (2019)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Cancers, 2019, 11 (8), pp.1081. ⟨10.3390/cancers11081081⟩
Cancers, MDPI, 2019, 11 (8), pp.1081. ⟨10.3390/cancers11081081⟩
Cancers, Vol 11, Iss 8, p 1081 (2019)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Cancers, 2019, 11 (8), pp.1081. ⟨10.3390/cancers11081081⟩
Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, caused by heterozygous mutations in the mismatch repair (MMR) genes. Biallelic mutations in these genes lead however, to constitutive mismatch repair deficiency (CMMR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc56214e873338b83d8c46f4474d54e0
https://hdl.handle.net/10347/21176
https://hdl.handle.net/10347/21176
Autor:
Juan José Lozano, Xavier Bessa, Teresa Ocaña, Anna Abulí, Trinidad Caldés, Sebastià Franch-Expósito, Josep M. Piqué, Clara Ruiz-Ponte, Miriam Cuatrecasas, Clara Esteban-Jurado, Montserrat Andreu, Francesc Balaguer, Sergi Beltran, Sergi Castellví-Bel, Anna Pristoupilova, Luis Bujanda, María López-Cerón, Jenifer Muñoz, Pilar Garre, Antoni Castells, Angel Carracedo, Maria Vila-Casadesús
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Genetics in Medicine
Consejería de Sanidad de la Comunidad de Madrid
Genetics in Medicine
Purpose:Colorectal cancer is an important cause of mortality in the developed world. Hereditary forms are due to germ-line mutations in APC, MUTYH, and the mismatch repair genes, but many cases present familial aggregation but an unknown inherited ca
Autor:
Hans F. A. Vasen, Yael Goldberg, Irene Slavc, Denisa Ilencikova, Anne-Marie Gerdes, Noémie Lavoine, Clara Ruiz-Ponte, Chrystelle Colas, Laurence Brugières, Christian P. Kratz, Alex Duval, Brigit Burkhardt, Martine Muleris, Olivier Caron, Natacha Entz-Werle, Katharina Wimmer
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Journal of Medical Genetics, 51(6), 355-365
Servizo Galego de Saúde (SERGAS)
Journal of Medical Genetics, 51(6), 355-365
Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The tumour spectrum is very broad
Autor:
Roland P. Kuiper, Kevin Sweet, Robbert D.A. Weren, Robert Hüneburg, Alois Lang, Jan Lubinski, Hildegunn Høberg-Vetti, Janet R. Vos, Erik A. M. Jansen, Marija Staninova, Barbara Rivera, Stefan Aretz, M. Elisa Vink-Börger, Claire Palles, Noel F C C de Miranda, Daniel D. Buchanan, Wenche Sjursen, William D. Foulkes, Kornelia Neveling, Clara Ruiz-Ponte, Ad Geurts van Kessel, Sue Kenwrick, Renske A. Kuiper, Laura Valle, Aleksandar Dimovski, Judith E. Grolleman, Paul A. James, Isabel Spier, David Cockburn, Maartje Nielsen, Hans Morreau, Hans K. Schackert, Nicoline Hoogerbrugge, Tom van Wezel, Helen Lindsay, Ian G. Campbell, Isabell Popp, Dagmara Dymerska, Na Li, Rolf H. Sijmons, Frederik J. Hes, Marjolijn J. L. Ligtenberg, Marjolijn C.J. Jongmans, Detlev Schindler, Ian Tomlinson, Eveline J. Kamping, Mark Clendenning, Olivera Spasic-Boskovic, Richarda M. de Voer, Sanne W. ten Broeke, Julian Adlard, Gabriel Capellá, Fadwa A. Elsayed
Publikováno v:
Cancer Cell, 35, 256
Cancer Cell, 35, 2, pp. 256
Cancer Cell, 35(2), 256-+. CELL PRESS
Cancer cell, 35(2), 256-266.e5. CELL PRESS
Cancer Cell, 35(2), 256. Cell Press
Cancer Cell, 35, 2, pp. 256
Cancer Cell, 35(2), 256-+. CELL PRESS
Cancer cell, 35(2), 256-266.e5. CELL PRESS
Cancer Cell, 35(2), 256. Cell Press
Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals carrying biallelic germline NTHL1 mutations from 17 families, of which
Autor:
Ruta Sahasrabudhe, Paul Lott, Mabel Bohorquez, Ted Toal, Ana P. Estrada, John J. Suarez, Alejandro Brea-Fernández, José Cameselle-Teijeiro, Carla Pinto, Irma Ramos, Alejandra Mantilla, Rodrigo Prieto, Alejandro Corvalan, Enrique Norero, Carolina Alvarez, Teresa Tapia, Pilar Carvallo, Luz M. Gonzalez, Alicia Cock-Rada, Angela Solano, Florencia Neffa, Adriana Della Valle, Chris Yau, Gabriela Soares, Alexander Borowsky, Nan Hu, Li-Ji He, Xiao-You Han, Philip R. Taylor, Alisa M. Goldstein, Javier Torres, Magdalena Echeverry, Clara Ruiz-Ponte, Manuel R. Teixeira, Luis G. Carvajal-Carmona, John Suarez, Gilbert Mateus, Maria Mercedes Bravo, Fernando Bolaños, Alejandro Vélez, Luis Carvajal-Carmona
Publikováno v:
Gastroenterology, vol 152, iss 5
Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer, we collected blood samples from 28 patients with he
Autor:
Francesc Balaguer, Luis Bujanda, María López-Cerón, Alejandro Brea-Fernández, Clara Ruiz-Ponte, Juan José Lozano, Trinidad Caldés, Joaquín Cubiella, Teresa Ocaña, Sebastià Franch-Expósito, Sabela Carballal, Maria Vila-Casadesús, Pilar Garre, Enric Serra, Sergi Castellví-Bel, Antoni Castells, Clara Esteban-Jurado, Jenifer Muñoz, Sergi Beltran, Miriam Cuatrecasas
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics
Colorectal cancer (CRC) is one of the most common neoplasms in the world. Fanconi anemia (FA) is a very rare genetic disease causing bone marrow failure, congenital growth abnormalities and cancer predisposition. The comprehensive FA DNA damage repai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f1eeb0896b7ea858b4c3c0deddb957
https://hdl.handle.net/20.500.12530/26563
https://hdl.handle.net/20.500.12530/26563
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:
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