Zobrazeno 31 - 40
of 168
pro vyhledávání: '"Clara Ruiz-Ponte"'
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 (
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:
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:
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
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:
Ihab Abdulkader-Nallib, Clara Ruiz-Ponte, Maite Peña-Fernández, Alejandro Brea-Fernández, José Cameselle-Teijeiro, Laura Sebio-Lago, Elena M. Turrado-Sánchez, Alejandro Novo-Domínguez
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Servizo Galego de Saúde (SERGAS)
Vaginal villous or tubulovillous adenomas (TVA) are uncommon tumors histologically similar to their intestinal counterparts. After reviewing the literature, we report the eighth case of TVA, which presented as a polypoid tumor in the vagina, at subur
Autor:
Mabel Bohorquez, Enrique Norero, Magdalena Echeverry, Rodrigo Prieto, Paul Lott, Luz María González, Manuel R. Teixeira, Alejandro H. Corvalan, Alejandra Mantilla, Phillip Taylor, Alexander D. Borowsky, Alisa M. Goldstein, Gabriela Soares, Alicia Cock-Rada, Florencia Neffa, Angela R. Solano, Ana Estrada, John Suarez, Javier Torres, Teresa Tapia, Adriana Della Valle, Clara Ruiz-Ponte, Alejandro Brea-Fernández, José Cameselle-Teijeiro, Irma Ramos, Pilar Carvallo, Xiao-You Han, Carla M. A. Pinto, Li-Ji He, Nan Hu, Ruta Sahasrabudhe, Luis G. Carvajal-Carmona, Carolina Alvarez, Ted Toal, Christopher Yau
Publikováno v:
Cancer Research. 77:LB-158
Gastric cancer (GC) is the third common cause of cancer related deaths worldwide and its risk is partially mediated by inherited factors. However, the majority of GC heritability remains to be discovered. The goal of this study was to identify novel
Autor:
Elena Gallardo, Luis Bujanda, Rosa M. Xicola, Antoni Castells, María I. García, Lucía Cortejoso, Montserrat Andreu, Laia Paré, Josep-Maria Reñé, Victor Moreno, Elisabeth Guino, Ceres Fernandez-Rozadilla, David Páez, Victoria Gonzalo, Clara Ruiz-Ponte, Montserrat Baiget, Jean-Baptiste Cazier, Alejandro Brea-Fernández, Xavier Bessa, Luis A. López-Fernández, María Jesús Lamas, Xavier Llor, Dolors Gonzalez, Claire Palles, Sonia Candamio, R. Jover, Sergi Castellví-Bel, Luis Rodrigo, Goretti Duran, Marta Crous-Bou, Rafael López, Ian Tomlinson, Angel Carracedo
Publikováno v:
PHARMACOGENOMICS JOURNAL
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The development of genotyping technologies has allowed for wider screening for inherited causes of variable outcomes following drug administration. We have performed a genome-wide association study (GWAS) on 221 colorectal cancer (CRC) patients that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfee7bb772359573fde439ee1248eb3e
https://ora.ox.ac.uk/objects/uuid:33723795-f3a8-4604-84a3-ecfe2d1726be
https://ora.ox.ac.uk/objects/uuid:33723795-f3a8-4604-84a3-ecfe2d1726be
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