Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Clara Ruiz-Ponte"'
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:
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:
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:
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
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
Autor:
José Francisco Noguera Aguilar, Mohammed Alhayek-Aí, Pedro A. Alonso Aguirre, Paula Álvarez-Chaver, Sara Alvarez-Gonzalez, Lucía Álvarez-Santullano, Javier Castro Alvariño, Jorge Amigo, Luis M. Antón Aparicio, Natalia Aptsiauri, María Sánchez Ares, Begoña Campos Balea, Paula Vieiro Balo, Lucía Barcia, Germán Bou, Vanesa Balboa Barreiro, Isaac Martínez Bendayán, Mónica Bernal, Pedro Carpintero Briones, Elena Brozos-Vázquez, Begoña Bravo Bueno, Alba Burundarena, Antonio Gómez Caamaño, José Manuel Mera Calviño, Marcos Calvo, Sonia Candamio-Folgar, Alejandra Cardelle-Cobas, Ángel Carracedo, Ainhoa Carrasco, Álvaro Gómez Castro, Ana María Carballo Castro, Alberto Cepeda, Alfonso Cepeda-Emiliani, Ángel Concha, Benito González Conde, Oscar J. Cordero, Alberto Centeno Cortés, Jesús Paredes Cotoré, Patricia Calvo Crespo, Alain García de Castro, Loretta De Chiara, Enrique González de la Ballina González, Sofía Rodríguez Martínez de Llano, Manuel Núñez Deben, M. del Carmen Corujeira Rivera, Cristina Méndez Díaz, Sonia Pértega Díaz, Leticia García Diéguez, Antonio Rodríguez D'Jesús, Ramón Vázquez Dourado, Alba Gómez Dovigo, Paloma Sosa Fajardo, Nereida Fernández Fernández, Rafaela Soler Fernández, Rosalía Fernández, Sergio Manuel Estévez Fernández, Carlos Fernandez-Lozano, Ceres Fernández-Rozadilla, Raquel Sardina Ferreiro, Silvia Varela Ferreiro, Roberto García Figueiras, Angélica Figueroa, Lydia Fraga Fontoira, Carlos M.N Franco, María Gallardo-Gómez, Concepción Crespo García, Esther Rodríguez García, Alba García-López, Federico Garrido, Javier Aguirrezabalaga González, Joaquín González-Carreró, Diego Gonzalez-Rivas, Begoña Graña-Suárez, Vicent Hernández, Paula Peleteiro Higuero, Héctor Lázare Iglesias, Orlando Fernández Lago, Alexandre Lamas, Jose Liñares-Blanco, María Jose Martinez-Sapiña Llanas, Fernando Fernández López, José Ramón Antúnez López, Rafael López-López, Anael López-Novo, Carmen Álvarez Lorenzo, Miguel Pereira Loureiro, Ramiro Manuel Macenlle García, Shirly Margarita Nieves Maldonado, Sara Seijas Marcos, Eva Martí Marqués, Cristina González Martín, Arantza Germade Martínez, Nieves Martínez Lago, Gala Martínez-Bernal, Julia Martínez-Pérez, Virginia Mato-Abad, Silvia Louzao Méndez, Manuel Bustamante Montalvo, Beatriz Romero Mosquera, Catuxa Celeiro Muñoz, Cristian R. Munteanu, Ángel Concheiro Nine, Alejandra García Novoa, Martina Lema Oreiro, Francisco Ruíz-Cabello Osuna, María Otero, Susana A. Otero Muinelo, Pilar Díaz Parada, Jesús P. Paredes Cotoré, Alejandro Pazos, Alejandro Pazos García, Carla Pazos García, Nieves Pedreira, María Teresa Seoane Pillado, Susana López Piñeiro, Margarita Poza, Natalia Cal Purriños, Francisco Queipo, Patricia Regal, Fernando Zelaya Reinquet, María Teresa Vázquez Rey, Andrés Dacal Rivas, José Luis Ulla Rocha, Alejandro Ledo Rodríguez, Francisco Javier González Rodríguez, Gerardo Baños Rodríguez, María Teresa García Rodríguez, Máximo Fraga Rodríguez, Miriam Rojas, Leopoldo López Rosés, Marta Covela Rúa, Juan Ruiz-Bañobre, Clara Ruiz-Ponte, Francisco Javier Maestro Saavedra, Víctor Sacristán Santos, Ismael Said-Criado, Aliuska Duardo Sánchez, Paloma González Santamaría, Rodrigo A.S. Sardenberg, Antonio Jurjo Sieira, Paulino Pais Silva, Rosa Fungueiriño Suarez, Tatiana María Civeira Taboada, Adriana Barreiro Trillo, Rosa Trillo, M. Lidia Vázquez-Tunas, Alfonso Martínez Turnes, Begoña Taboada Valladares, Manuel Valladares-Ayerbes, Vanesa Val Varela, Rubén Varela-Calviño, Beatriz I. Vázquez, Carla Blanco Vázquez, Juan Turnes Vázquez, Pablo Parada Vázquez, Vanesa Vilanova Vázquez, José M. Vázquez-Naya, Francisca Vázquez-Rivera, Alberto Veiga, Yolanda Vidal-Ínsua, Alba María Arceo Vilas, Ignacio Couto Worner
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec27835176343b678c642ea4f4aa9c4d
https://doi.org/10.1016/b978-0-323-90055-3.09988-9
https://doi.org/10.1016/b978-0-323-90055-3.09988-9
Autor:
Clara Ruiz-Ponte, Simon Myers, Angel Carracedo, Ceres Fernandez-Rozadilla, Clare Bycroft, Iéns Quintela-García, Peter Donnelly
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications
Nature Communications
The Iberian Peninsula is linguistically diverse and has a complex demographic history, including a centuries-long period of Muslim rule. Here, we study the fine-scale genetic structure of its population, and the genetic impacts of historical events,
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:
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