Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Clara Ruiz-Ponte"'
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:
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:
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:
Arantza Farina Sarasqueta, Tom van Wezel, Clara Ruiz-Ponte, Stephanie A. Schubert, Juul T. Wijnen, Sergi Castellví-Bel, Rolf H. Sijmons, Hans Morreau, Bruce H. R. Wolffenbuttel, Stijn Crobach, Melanie M. van der Klauw, Arnoud Boot, Jan Oosting, Noel F C C de Miranda, Fadwa A. Elsayed, Frederik J. Hes, Hans F. A. Vasen, Maartje Nielsen, Pavel Vodicka, Rolf H. A. M. Vossen, Carli M. J. Tops, Ronald van Eijk, Malcolm G. Dunlop, Ian Tomlinson, Dina Ruano
Publikováno v:
British Journal of Cancer
Schubert, S A, Ruano, D, Elsayed, F A, Boot, A, Crobach, S, Sarasqueta, A F, Wolffenbuttel, B, van der Klauw, M M, Oosting, J, Tops, C M, van Eijk, R, Vasen, H F, Vossen, R H, Nielsen, M, Castellví-Bel, S, Ruiz-Ponte, C, Tomlinson, I, Dunlop, M G, Vodicka, P, Wijnen, J T, Hes, F J, Morreau, H, de Miranda, N F, Sijmons, R H & van Wezel, T 2017, ' Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia ', British Journal of Cancer . https://doi.org/10.1038/bjc.2017.240
British Jounal of Cancer, 117(8), 1215-1223. Nature Publishing Group
British Journal of Cancer, 117(8), 1215-1223
British journal of cancer, 117(6), 876-884. Nature Publishing Group
Schubert, S A, Ruano, D, Elsayed, F A, Boot, A, Crobach, S, Sarasqueta, A F, Wolffenbuttel, B, van der Klauw, M M, Oosting, J, Tops, C M, van Eijk, R, Vasen, H F, Vossen, R H, Nielsen, M, Castellví-Bel, S, Ruiz-Ponte, C, Tomlinson, I, Dunlop, M G, Vodicka, P, Wijnen, J T, Hes, F J, Morreau, H, de Miranda, N F, Sijmons, R H & van Wezel, T 2017, ' Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia ', British Journal of Cancer . https://doi.org/10.1038/bjc.2017.240
British Jounal of Cancer, 117(8), 1215-1223. Nature Publishing Group
British Journal of Cancer, 117(8), 1215-1223
British journal of cancer, 117(6), 876-884. Nature Publishing Group
BACKGROUND: A substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify predisposing loci in patients with these disorders.METHODS: Homozygosity mapping was performed using 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c27b339caa03287c7a985f07c59a3502
https://hdl.handle.net/1887/115104
https://hdl.handle.net/1887/115104
Autor:
Pedro Pérez-Segura, David Marrupe, Carmen Poves, Vanesa García-Barberán, Patricia Llovet, Víctor Lorca, Miguel de la Hoya, Daniel Rueda, Beatriz García-Paredes, María Jesús Fernández-Aceñero, Pilar Garre, Clara Ruiz-Ponte, Eduardo Díaz-Rubio, Trinidad Caldés, Lorena Martín-Morales
Publikováno v:
PLoS ONE
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
PLoS ONE, Vol 12, Iss 11, p e0187312 (2017)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
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