Zobrazeno 1 - 10
of 168
pro vyhledávání: '"Clara Ruiz-Ponte"'
Autor:
C. Fernández-Rozadilla, M. Álvarez-Barona, I. Quintana, A. López-Novo, J. Amigo, J. M. Cameselle-Teijeiro, E. Roman, D. Gonzalez, X. Llor, L. Bujanda, X. Bessa, R. Jover, F. Balaguer, A. Castells, S. Castellví-Bel, G. Capellá, A. Carracedo, L. Valle, Clara Ruiz-Ponte
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop the disease. In thi
Externí odkaz:
https://doaj.org/article/1a336233f77f4df2a8dd367041fb7916
Autor:
Clare Bycroft, Ceres Fernandez-Rozadilla, Clara Ruiz-Ponte, Inés Quintela, Ángel Carracedo, Peter Donnelly, Simon Myers
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
The Iberian Peninsula has a complex history. Here, the authors analyse the genetic structure of the modern Iberian population at fine scale, revealing historical population movements associated with the time of Muslim rule.
Externí odkaz:
https://doaj.org/article/2f1caba003dd4a0d9be6caf54cc06a31
Autor:
Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz-Gay, Sebastià Franch-Expósito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernàndez, Aranzazu Díaz de Bustamante, Sophia Peters, Anna K Sommer, Isabel Spier, Iris B A W te Paske, Yasmijn J van Herwaarden, Antoni Castells, Luis Bujanda, Gabriel Capellà, Verena Steinke-Lange, Khalid Mahmood, JiHoon Eric Joo, Julie Arnold, Susan Parry, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Elke Holinski-Feder, Richarda de Voer, Daniel D Buchanan, Stefan Aretz, Clara Ruiz-Ponte, Laura Valle, Francesc Balaguer, Laia Bonjoch, Sergi Castellvi-Bel
Publikováno v:
Journal of Medical Genetics, 60, 557-567
Journal of Medical Genetics, 60, 6, pp. 557-567
Journal of Medical Genetics, 60, 6, pp. 557-567
BackgroundPatients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factor
Autor:
Claire Palles, Hannah D. West, Edward Chew, Sara Galavotti, Christoffer Flensburg, Judith E. Grolleman, Erik A.M. Jansen, Helen Curley, Laura Chegwidden, Edward H. Arbe-Barnes, Nicola Lander, Rebekah Truscott, Judith Pagan, Ashish Bajel, Kitty Sherwood, Lynn Martin, Huw Thomas, Demetra Georgiou, Florentia Fostira, Yael Goldberg, David J. Adams, Simone A.M. van der Biezen, Michael Christie, Mark Clendenning, Laura E. Thomas, Constantinos Deltas, Aleksandar J. Dimovski, Dagmara Dymerska, Jan Lubinski, Khalid Mahmood, Rachel S. van der Post, Mathijs Sanders, Jürgen Weitz, Jenny C. Taylor, Clare Turnbull, Lilian Vreede, Tom van Wezel, Celina Whalley, Claudia Arnedo-Pac, Giulio Caravagna, William Cross, Daniel Chubb, Anna Frangou, Andreas J. Gruber, Ben Kinnersley, Boris Noyvert, David Church, Trevor Graham, Richard Houlston, Nuria Lopez-Bigas, Andrea Sottoriva, David Wedge, Mark A. Jenkins, Roland P. Kuiper, Andrew W. Roberts, Jeremy P. Cheadle, Marjolijn J.L. Ligtenberg, Nicoline Hoogerbrugge, Viktor H. Koelzer, Andres Dacal Rivas, Ingrid M. Winship, Clara Ruiz Ponte, Daniel D. Buchanan, Derek G. Power, Andrew Green, Ian P.M. Tomlinson, Julian R. Sampson, Ian J. Majewski, Richarda M. de Voer
Publikováno v:
American Journal of Human Genetics, 109(5), 953-960. Cell Press
Palles, C, West, H, Chew, E, Galavotti, S, Flensburg, C, Grolleman, J, Jansen, E, Curley, H, Chedwiggen, L, Arbe-Barnes, E, Lander, N, Truscot, R, Pagan, J, Bajel, A, Sherwood, K, Martin, L, Thomas, H, Georgiou, D, Fostira, F, Goldberg, Y, Adams, D, van der Biezen, S, Christie, M, Clendenning, M, Thomas, L, Deltas, C, Dimovski, A, Dymerska, D, Lubinski, J, Mahmood, K, van der Post, R, Sanders, M, Weitz, J, Taylor, J, Turnbull, C, Vreede, L, van Wezel, T, Whalley, C, Arnedo, C, Caravagna, G, Cross, W, Chubb, D, Frangou, A, Gruber, A, Kinnersley, B, Noyvert, B, Church, D, Graham, T, Houlston, R, Lopez, N, Sottoriva, A, Wedge, D, Jenkins, M, Kuiper, R, Roberts, A, Cheadle, J, Ligtenberg, M, Hoogerbrugge, N, Koelzer, V, Dacal Rivas, A, Winship, I, Ruiz Ponte, C, Buchanan, D, Power, D, Green, A, Tomlinson, I P M, Sampson, J, Majewski, I & M. de Voer, R 2022, ' Germline MBD4-deficiency causes a multi-tumor predisposition syndrome ', American Journal of Human Genetics, vol. 109, no. 5, pp. 953-960 . https://doi.org/10.1016/j.ajhg.2022.03.018
American Journal of Human Genetics, 109, 953-960
American Journal of Human Genetics, 109, 5, pp. 953-960
Palles, C, West, H, Chew, E, Galavotti, S, Flensburg, C, Grolleman, J, Jansen, E, Curley, H, Chedwiggen, L, Arbe-Barnes, E, Lander, N, Truscot, R, Pagan, J, Bajel, A, Sherwood, K, Martin, L, Thomas, H, Georgiou, D, Fostira, F, Goldberg, Y, Adams, D, van der Biezen, S, Christie, M, Clendenning, M, Thomas, L, Deltas, C, Dimovski, A, Dymerska, D, Lubinski, J, Mahmood, K, van der Post, R, Sanders, M, Weitz, J, Taylor, J, Turnbull, C, Vreede, L, van Wezel, T, Whalley, C, Arnedo, C, Caravagna, G, Cross, W, Chubb, D, Frangou, A, Gruber, A, Kinnersley, B, Noyvert, B, Church, D, Graham, T, Houlston, R, Lopez, N, Sottoriva, A, Wedge, D, Jenkins, M, Kuiper, R, Roberts, A, Cheadle, J, Ligtenberg, M, Hoogerbrugge, N, Koelzer, V, Dacal Rivas, A, Winship, I, Ruiz Ponte, C, Buchanan, D, Power, D, Green, A, Tomlinson, I P M, Sampson, J, Majewski, I & M. de Voer, R 2022, ' Germline MBD4-deficiency causes a multi-tumor predisposition syndrome ', American Journal of Human Genetics, vol. 109, no. 5, pp. 953-960 . https://doi.org/10.1016/j.ajhg.2022.03.018
American Journal of Human Genetics, 109, 953-960
American Journal of Human Genetics, 109, 5, pp. 953-960
Contains fulltext : 251996.pdf (Publisher’s version ) (Open Access) We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We
Autor:
Laia Bonjoch, Ceres Fernandez-Rozadilla, Miriam Alvarez-Barona, Anael Lopez-Novo, Cristina Herrera-Pariente, Jorge Amigo, Luis Bujanda, David Remedios, Andrés Dacal, Joaquín Cubiella, Francesc Balaguer, Fernando Fernández-Bañares, Angel Carracedo, Rodrigo Jover, Sergi Castellvi-Bel, Clara Ruiz-Ponte
Publikováno v:
Gastroenterology.
Autor:
Yasmin, Soares de Lima, Coral, Arnau-Collell, Jenifer, Muñoz, Cristina, Herrera-Pariente, Leticia, Moreira, Teresa, Ocaña, Marcos, Díaz-Gay, Sebastià, Franch-Expósito, Miriam, Cuatrecasas, Sabela, Carballal, Anael, Lopez-Novo, Lorena, Moreno, Guerau, Fernàndez, Aranzazu, Díaz de Bustamante, Sophia, Peters, Anna K, Sommer, Isabel, Spier, Iris B A W, Te Paske, Yasmijn J, van Herwaarden, Antoni, Castells, Luis, Bujanda, Gabriel, Capellà, Verena, Steinke-Lange, Khalid, Mahmood, JiHoon Eric, Joo, Julie, Arnold, Susan, Parry, Finlay A, Macrae, Ingrid M, Winship, Christophe, Rosty, Joaquin, Cubiella, Daniel, Rodríguez-Alcalde, Elke, Holinski-Feder, Richarda, de Voer, Daniel D, Buchanan, Stefan, Aretz, Clara, Ruiz-Ponte, Laura, Valle, Francesc, Balaguer, Laia, Bonjoch, Sergi, Castellvi-Bel
Publikováno v:
Journal of medical genetics.
Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS
Autor:
Ben Kinnersley, Daniel Chubb, Sara E. Dobbins, Matthew Frampton, Stephan Buch, Maria N. Timofeeva, Sergi Castellví-Bel, Susan M. Farrington, Asta Forsti, Jochen Hampe, Kari Hemminki, Robert M. W. Hofstra, Emma Northwood, Claire Palles, Manuela Pinheiro, Clara Ruiz-Ponte, Clemens Schafmayer, Manuel R. Teixeira, Helga Westers, Tom van Wezel, D. Timothy Bishop, Ian Tomlinson, Malcolm G. Dunlop, Richard S. Houlston
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-3 (2016)
Externí odkaz:
https://doaj.org/article/3995a0ed53f04657ae7904007a97225c
Autor:
Víctor Lorca, Daniel Rueda, Lorena Martín-Morales, Carmen Poves, María Jesús Fernández-Aceñero, Clara Ruiz-Ponte, Patricia Llovet, David Marrupe, Vanesa García-Barberán, Beatriz García-Paredes, Pedro Pérez-Segura, Miguel de la Hoya, Eduardo Díaz-Rubio, Trinidad Caldés, Pilar Garre
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0187312 (2017)
The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent it is implicated in familial CRC susceptibility. Partially inactivating variant, NM_024642.4:c.907G>A, p.(D303N), has been previously det
Externí odkaz:
https://doaj.org/article/fd09141029544588ac11fc1e88cef1b0
Autor:
Ceres Fernández-Rozadilla, Miriam Alvarez-Barona, Esther Schamschula, Sahra Bodo, Anael Lopez-Novo, Andres Dacal, Consuelo Calviño-Costas, Angel Lancho, Jorge Amigo, Xabier Bello, Jose Manuel Cameselle-Teijeiro, Angel Carracedo, Chrystelle Colas, Martine Muleris, Katharina Wimmer, Clara Ruiz-Ponte
Publikováno v:
Cancers, Vol 11, Iss 8, p 1081 (2019)
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://doaj.org/article/cbfe801554d04511b2da14763479d857
Publikováno v:
Foundations of Colorectal Cancer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dfb3c28e0aabef639a0f33d97917c6fa
https://doi.org/10.1016/b978-0-323-90055-3.00025-9
https://doi.org/10.1016/b978-0-323-90055-3.00025-9