Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Alejandro Brea–Fernández"'
Autor:
Ceres Fernández-Rozadilla, Luisa de Castro, Juan Clofent, Alejandro Brea-Fernández, Xavier Bessa, Anna Abulí, Montserrat Andreu, Rodrigo Jover, Rosa Xicola, Xavier Llor, Antoni Castells, Sergi Castellví-Bel, Angel Carracedo, Clara Ruiz-Ponte, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association
Publikováno v:
PLoS ONE, Vol 5, Iss 9, p e815 (2010)
BACKGROUND: Colorectal cancer (CRC) is considered a complex disease, and thus the majority of the genetic susceptibility is thought to lie in the form of low-penetrance variants following a polygenic model of inheritance. Candidate-gene studies have
Externí odkaz:
https://doaj.org/article/c0db4e40b4724ebda766ba41ffbbee22
Autor:
Paloma Cabanas, Pilar Caamaño, Jacobo Limeres, Alejandro Brea-Fernández, David Dacruz-Álvarez, Lourdes Loidi
Publikováno v:
Journal of Human Genetics. 64:1133-1136
Cyclophilins are a type of peptidyl-prolyl cis-trans isomerases. CWC27, one of the known human cyclophilins, is recruited by the spliceosome for the pre-mRNA splicing process. Biallelic deleterious variants in CWC27 lead to a spectrum of overlapping
Autor:
Yoshihisa Takiyama, Stefanie Brock, Jennifer Hirst, Niklas Dahl, Radka Kremlikova Pourova, Andrea Martinuzzi, Seth Perlman, Helene Verhelst, Omnia Fathy El-Rashidy, Nour Elkhateeb, Sarah I. Sheikh, Jamal Ghoumid, Erin Carmody, Georgia Xiromerisiou, Diego Miguel, James T. Bennett, Barbara Brechmann, William O. Walker, David Dacruz-Álvarez, Mathieu Anheim, Dana M. Jensen, Stefan Kölker, Uzma Shamshad, Darius Ebrahimi-Fakhari, Grace Yoon, Katharina Vill, David Bearden, Adel A. Mahmoud, Sheela Nampoothiri, Devorah Segal, Antje Wiesener, Shenela Lakhani, Joseph G. Gleeson, Chirag Patel, Angelica D'Amore, Abdelrahim Abdrabou Sadek, Marvin Ziegler, Mustafa Sahin, Toni S. Pearson, Julian Teinert, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Lubov Blumkin, Jonathan Baets, Laura Robelin, Daniel Ebrahimi-Fakhari, Parham Habibzadeh, Anju Shukla, Peter O. Bauer, Saskia Bulk, Afshin Saffari, Elizabeth Lim-Melia, Michael C. Kruer, Christian Beetz, Andreas Ziegler, Pankaj B. Agrawal, Thomas Bourinaris, Filippo M. Santorelli, Mireille Guillot, Abdullah Alamri, Mohammad Ali Faghihi, Kathrin Eberhardt, Thomas Smol, Henry Houlden, Nur Aydinli, Constanze Heine, Soroor Inaloo, Anaita Udwadia-Hegde, Alejandro Brea-Fernández, Yasemin Alanay, Rachana Dubey Gupta, Ayse Aksoy, Agathe Roubertie, Jens Volkmann, Basil T. Darras, Hendrik Langen, Mauricio R. Delgado, Jan Ulrich Schlump, Gregory Geisel, Anna Jansen, Somayeh Bakhtiari, Steven P. Miller, Miriam Wimmer, Maha S. Zaki, Premsai Nagabhyrava, Robert Behne, Hossein Darvish
Publikováno v:
Brain
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SP
Publikováno v:
American journal of medical genetics. Part A. 179(2)
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are very rare conditions caused by KAT6B truncating variants. Because of both syndromes often share common features the associated phenotypes are usually grouped
Autor:
Miriam Alvarez-Barona, Mireia M. Ginestà, Antoni Castells, D. Azuara, R. Jover, Xavier Bessa, C. Ruiz-Ponte, Juan Clofent, Montserrat Andreu, Ceres Fernandez-Rozadilla, Angel Carracedo, L. de Castro, Alejandro Brea-Fernández, Rosa M. Xicola, Xavier Llor, Sergi Castellví-Bel, Dolors Gonzalez, Gabriel Capellá
Publikováno v:
Clinical & Translational Oncology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
CLINICAL & TRANSLATIONAL ONCOLOGY
r-FISABIO. Repositorio Institucional de Producción Científica
Europe PubMed Central
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
CLINICAL & TRANSLATIONAL ONCOLOGY
r-FISABIO. Repositorio Institucional de Producción Científica
Europe PubMed Central
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
A great proportion of the heritability of colorectal cancer (CRC) still remains unexplained, and rare variants, as well as copy number changes, have been proposed as potential candidates to explain the so-called 'missing heritability'. We aimed to id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc1586b50eb7d11935f8b9228f6b51b6
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14259
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14259
Autor:
Montserrat Milà, C. Ruiz-Ponte, Sergi Castellví-Bel, Alejandro Brea-Fernández, Cristina Alenda, Francesc Balaguer, Ceres Fernandez-Rozadilla, Josep-Maria Reñé, Juan Clofent, Antoni Castells, Joaquín Cubiella, R. Jover, José Cameselle-Teijeiro, Angel Carracedo, Urbano Anido
Publikováno v:
Clinical Genetics. 85:583-588
Lynch syndrome (LS) is caused by germline mutations in one of the four mismatch repair (MMR) genes. Defects in this pathway lead to microsatellite instability (MSI) in DNA tumors, which constitutes the molecular hallmark of this disease. Selection of
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:
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
Autor:
Francesc Balaguer, Luis Bujanda, María López-Cerón, Alejandro Brea-Fernández, Clara Ruiz-Ponte, Juan José Lozano, Trinidad Caldés, Joaquín Cubiella, Teresa Ocaña, Sebastià Franch-Expósito, Sabela Carballal, Maria Vila-Casadesús, Pilar Garre, Enric Serra, Sergi Castellví-Bel, Antoni Castells, Clara Esteban-Jurado, Jenifer Muñoz, Sergi Beltran, Miriam Cuatrecasas
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics
Colorectal cancer (CRC) is one of the most common neoplasms in the world. Fanconi anemia (FA) is a very rare genetic disease causing bone marrow failure, congenital growth abnormalities and cancer predisposition. The comprehensive FA DNA damage repai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f1eeb0896b7ea858b4c3c0deddb957
https://hdl.handle.net/20.500.12530/26563
https://hdl.handle.net/20.500.12530/26563