Current Status of Genetic Counselling for Rare Diseases in Spain

por Álvaro-Sánchez, Sara, Abreu-Rodríguez, Irene, Abulí, Anna, Serra-Juhe, Clara, Garrido-Navas, Maria del Carmen
Publicado 2021

Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort

por Fernández-Rozadilla, Ceres, de Castro, Luisa, Clofent, Juan, Brea-Fernández, Alejandro, Bessa, Xavier, Abulí, Anna, Andreu, Montserrat, Jover, Rodrigo, Xicola, Rosa, Llor, Xavier, Castells, Antoni, Castellví-Bel, Sergi, Carracedo, Angel, Ruiz-Ponte, Clara
Publicado 2010

Genetic Variants Associated with Colorectal Adenoma Susceptibility

por Abulí, Anna, Castells, Antoni, Bujanda, Luis, Lozano, Juan José, Bessa, Xavier, Hernández, Cristina, Álvarez-Urturi, Cristina, Pellisé, Maria, Esteban-Jurado, Clara, Hijona, Elizabeth, Burón, Andrea, Macià, Francesc, Grau, Jaume, Guayta, Rafael, Castellví-Bel, Sergi, Andreu, Montserrat
Publicado 2016

A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome

por Keraite, Ieva, Becker, Philipp, Canevazzi, Davide, Frias-López, Cristina, Dabad, Marc, Tonda-Hernandez, Raúl, Paramonov, Ida, Ingham, Matthew John, Brun-Heath, Isabelle, Leno, Jordi, Abulí, Anna, Garcia-Arumí, Elena, Heath, Simon Charles, Gut, Marta, Gut, Ivo Glynne
Publicado 2022

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

por Esteban-Jurado, Clara, Vila-Casadesús, Maria, Garre, Pilar, Lozano, Juan José, Pristoupilova, Anna, Beltran, Sergi, Muñoz, Jenifer, Ocaña, Teresa, Balaguer, Francesc, López-Cerón, Maria, Cuatrecasas, Miriam, Franch-Expósito, Sebastià, Piqué, Josep M., Castells, Antoni, Carracedo, Angel, Ruiz-Ponte, Clara, Abulí, Anna, Bessa, Xavier, Andreu, Montserrat, Bujanda, Luis, Caldés, Trinidad, Castellví-Bel, Sergi
Publicado 2015

A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

por Fernandez-Rozadilla, Ceres, Cazier, Jean-Baptiste, Tomlinson, Ian P, Carvajal-Carmona, Luis G, Palles, Claire, Lamas, María J, Baiget, Montserrat, López-Fernández, Luis A, Brea-Fernández, Alejandro, Abulí, Anna, Bujanda, Luis, Clofent, Juan, Gonzalez, Dolors, Xicola, Rosa, Andreu, Montserrat, Bessa, Xavier, Jover, Rodrigo, Llor, Xavier, Moreno, Víctor, Castells, Antoni, Carracedo, Ángel, Castellvi-Bel, Sergi, Ruiz-Ponte, Clara
Publicado 2013

The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

por Abulí, Anna, Bujanda, Luis, Muñoz, Jenifer, Buch, Stephan, Schafmayer, Clemens, Valeria Maiorana, Maria, Veneroni, Silvia, van Wezel, Tom, Liu, Tao, Westers, Helga, Esteban-Jurado, Clara, Ocaña, Teresa, Piqué, Josep M., Andreu, Montserrat, Jover, Rodrigo, Carracedo, Angel, Xicola, Rosa M., Llor, Xavier, Castells, Antoni, Dunlop, Malcolm, Hofstra, Robert, Lindblom, Annika, Wijnen, Juul, Peterlongo, Paolo, Hampe, Jochen, Ruiz-Ponte, Clara, Castellví-Bel, Sergi
Publicado 2014

Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins

por Abulí, Anna, Fernández-Rozadilla, Ceres, Alonso-Espinaco, Virginia, Muñoz, Jenifer, Gonzalo, Victoria, Bessa, Xavier, González, Dolors, Clofent, Joan, Cubiella, Joaquin, Morillas, Juan D, Rigau, Joaquim, Latorre, Mercedes, Fernández-Bañares, Fernando, Peña, Elena, Riestra, Sabino, Payá, Artemio, Jover, Rodrigo, Xicola, Rosa M, Llor, Xavier, Carvajal-Carmona, Luis, Villanueva, Cristina M, Moreno, Victor, Piqué, Josep M, Carracedo, Angel, Castells, Antoni, Andreu, Montserrat, Ruiz-Ponte, Clara, Castellví-Bel, Sergi
Publicado 2011

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

por Stefanski, Arthur, Pérez-Palma, Eduardo, Brünger, Tobias, Montanucci, Ludovica, Gati, Cornelius, Klöckner, Chiara, Johannesen, Katrine M, Goodspeed, Kimberly, Macnee, Marie, Deng, Alexander T, Aledo-Serrano, Ángel, Borovikov, Artem, Kava, Maina, Bouman, Arjan M, Hajianpour, M J, Pal, Deb K, Engelen, Marc, Hagebeuk, Eveline E O, Shinawi, Marwan, Heidlebaugh, Alexis R, Oetjens, Kathryn, Hoffman, Trevor L, Striano, Pasquale, Freed, Amanda S, Futtrup, Line, Balslev, Thomas, Abulí, Anna, Danvoye, Leslie, Lederer, Damien, Balci, Tugce, Nouri, Maryam Nabavi, Butler, Elizabeth, Drewes, Sarah, van Engelen, Kalene, Howell, Katherine B, Khoury, Jean, May, Patrick, Trinidad, Marena, Froelich, Steven, Lemke, Johannes R, Tiller, Jacob, Freed, Amber N, Kang, Jing-Qiong, Wuster, Arthur, Møller, Rikke S, Lal, Dennis
Publicado 2023