Zobrazeno 21 - 30
of 108
pro vyhledávání: '"Clara Ruiz-Ponte"'
Autor:
Sergi Castellví-Bel, Maren Fridtjofsen Olsen, Trinidad Caldés, Richarda M. de Voer, Kari Hemminki, Laura Valle, Clara Ruiz-Ponte, Yael Goldberg, Pilar Garre, Margareta Nordling, Wenche Sjursen, Asta Försti
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Molecular Aspects of Medicine
Molecular Aspects of Medicine, 69, pp. 10-26
Molecular Aspects of Medicine, 69, 10-26
Universidad de Barcelona
Molecular Aspects of Medicine
Molecular Aspects of Medicine, 69, pp. 10-26
Molecular Aspects of Medicine, 69, 10-26
The present article summarizes recent developments in the characterization of genetic predisposition to colorectal cancer (CRC). The main themes covered include new hereditary CRC and polyposis syndromes, non-CRC hereditary cancer genes found mutated
Autor:
Fadwa A. Elsayed, Judith E. Grolleman, Abiramy Ragunathan, Daniel D. Buchanan, Tom van Wezel, Richarda M. de Voer, Arnoud Boot, Marija Staninova Stojovska, Khalid Mahmood, Mark Clendenning, Noel de Miranda, Dagmara Dymerska, Demi van Egmond, Steven Gallinger, Peter Georgeson, Nicoline Hoogerbrugge, John L. Hopper, Erik A.M. Jansen, Mark A. Jenkins, Jihoon E. Joo, Roland P. Kuiper, Marjolijn J.L. Ligtenberg, Jan Lubinski, Finlay A. Macrae, Hans Morreau, Polly Newcomb, Maartje Nielsen, Claire Palles, Daniel J. Park, Bernard J. Pope, Christophe Rosty, Clara Ruiz Ponte, Hans K. Schackert, Rolf H. Sijmons, Ian P. Tomlinson, Carli M.J. Tops, Lilian Vreede, Romy Walker, Aung K. Win
Publikováno v:
Gastroenterology, 159, 6, pp. 2241-2243
Gastroenterology, 159(6), 2241-2243.e6. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology
Gastroenterology, 159, 2241-2243
Gastroenterology, 159(6), 2241-2243.e6. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology
Gastroenterology, 159, 2241-2243
Contains fulltext : 228713.pdf (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f011c8eb83e62072232c460c7b90cfdf
https://hdl.handle.net/1887/3184333
https://hdl.handle.net/1887/3184333
Autor:
M le Mentec, Chrystelle Colas, Marta Pineda, Richard Gallon, Hans F. A. Vasen, Zeinab Ghorbanoghli, Laurence Brugières, Manon Suerink, Katharina Wimmer, Clara Ruiz-Ponte, Yael Goldberg, James C. H. Hardwick, E M A Bleiker, Martine Muleris, Tim Ripperger, Patrick R. Benusiglio, Matthias Kloor
Publikováno v:
Familial Cancer
Familial Cancer, Springer Verlag (Germany), In press, ⟨10.1007/s10689-020-00194-1⟩
Familial Cancer, 20, 67-73. SPRINGER
Familial Cancer, Springer Verlag (Germany), In press, ⟨10.1007/s10689-020-00194-1⟩
Familial Cancer, 20, 67-73. SPRINGER
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22a8191da507d22133cc5820ddc23f72
https://hdl.handle.net/1887/3181348
https://hdl.handle.net/1887/3181348
Autor:
Ana Vega, Orland Diez, Alejandro Moles-Fernández, Xavier de la Cruz, Gabriel Capellá, Luz-Marina Porras, Miguel de la Hoya, Sara Gutiérrez-Enríquez, Daniel Rueda, Conxi Lázaro, Anael López-Novo, Clara Ruiz-Ponte, Marta Pineda, Ana Blanco, Ignacio J. Molina, Lídia Feliubadaló, Ana Osorio, Marta Santamariña-Pena, Alysson T Sánchez
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Digibug: Repositorio Institucional de la Universidad de Granada
Universidad de Granada (UGR)
Universidad de Barcelona
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Digibug: Repositorio Institucional de la Universidad de Granada
Universidad de Granada (UGR)
Background Gene panel testing by massive parallel sequencing has increased the diagnostic yield but also the number of variants of uncertain significance. Clinical interpretation of genomic data requires expertise for each gene and disease. Heterozyg
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:
Steven Laurie, Maria Vila-Casadesús, Antoni Castells, Teresa Ocaña, Joaquín Cubiella, Clara Esteban-Jurado, Jordi Camps, Saray Duran-Sanchon, Jenifer Muñoz, Trinidad Caldés, Juan José Lozano, Sergi Beltran, Laia Bonjoch, Sergi Castellví-Bel, Pilar Garre, Isabel Quintanilla, Sophia Derdak, Francesc Balaguer, Marcos Díaz-Gay, María López-Cerón, Esther Samper, Luis Bujanda, Miriam Cuatrecasas, Sebastià Franch-Expósito, Sabela Carballal, Meritxell Gironella, Jaime J. Carvajal, Clara Ruiz-Ponte
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
EPICOLON consortium: et al.
Colorectal cancer (CRC) is one of the most common neoplasms and an important cause of mortality worldwide (http://globocan.iarc.fr/). Approximately 35% of the variation in CRC susceptibility is likely due to heritable
Colorectal cancer (CRC) is one of the most common neoplasms and an important cause of mortality worldwide (http://globocan.iarc.fr/). Approximately 35% of the variation in CRC susceptibility is likely due to heritable
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:
Clara Esteban-Jurado, Sebastià Franch-Expósito, Clara Ruiz-Ponte, Sergi Castellví-Bel, Maria Marti-Solano, Sabela Carballal, Joaquín Cubiella, David Giménez-Zaragoza, Teresa Ocaña, Gemma Llort, Jenifer Muñoz, Rosa Aligué, María López-Cerón, Francesc Balaguer, Tom van Wezel, Luis Bujanda, Miriam Cuatrecasas, Judith Balmaña, Victoria Gonzalo, Antoni Castells, Miriam Alvarez-Barona, Marcos Díaz-Gay
Publikováno v:
Oncotarget, 8(16), 26732-26743
Oncotarget
Oncotarget
// Clara Esteban-Jurado 1 , David Gimenez-Zaragoza 2 , Jenifer Munoz 1 , Sebastia Franch-Exposito 1 , Miriam Alvarez-Barona 3 , Teresa Ocana 1 , Miriam Cuatrecasas 4 , Sabela Carballal 1 , Maria Lopez-Ceron 1 , Maria Marti-Solano 5 , Marcos Diaz-Gay
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:
M. Elisa Vink-Börger, Ian Tomlinson, Janet R. Vos, Barbara Rivera, Dagmara Dymerska, Na Li, Sanne W. ten Broeke, Isabel Spier, Hildegunn Høberg-Vetti, Gabriel Capellá, Clara Ruiz-Ponte, Erik A. M. Jansen, Mark Clendenning, Renske A. Kuiper, Laura Valle, Stefan Aretz, Rolf H. Sijmons, Tom van Wezel, Claire Palles, Judith E. Grolleman, William D. Foulkes, Ian G. Campbell, Julian Adlard, Sue Kenwrick, Olivera Spasic-Boskovic, Frederik J. Hes, Eveline J. Kamping, Robert Hüneburg, Noel F C C de Miranda, Wenche Sjursen, Ad Geurts van Kessel, Richarda M. de Voer, Isabell Popp, Jan Lubinski, Fadwa A. Elsayed, Detlev Schindler, Marija Staninova, Hans K. Schackert, Robbert D.A. Weren, Aleksandar Dimovski, Nicoline Hoogerbrugge, Kevin Sweet, Helen Lindsay, Alois Lang, Roland P. Kuiper, Kornelia Neveling, David Cockburn, Maartje Nielsen, Daniel D. Buchanan, Hans Morreau, Marjolijn J. L. Ligtenberg, Marjolijn C.J. Jongmans, Paul A. James
Publikováno v:
SSRN Electronic Journal.
Biallelic germline mutations affecting NTHL1 predispose to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown, which hampers patient recognition. We describe 29 individuals from 17 families, of which 26 developed one (