Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome
Gonzalez-Abuin, Noemi, Pons, Tirso, Fuster, Teresa, Quintana, Isabel, Terradas, Mariona, Aiza, Gemma, Brunet, Joan, Capellá, Gabriel, Hampel, Heather, Valle, Laura
Published in Genes & diseases (01.03.2024)
Published in Genes & diseases (01.03.2024)
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Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis
Mur, Pilar, De Voer, Richarda M, Olivera-Salguero, Rubén, Rodríguez-Perales, Sandra, Pons, Tirso, Setién, Fernando, Aiza, Gemma, Valdés-Mas, Rafael, Bertini, Angelo, Pineda, Marta, Vreede, Lilian, Navarro, Matilde, Iglesias, Silvia, González, Sara, Brunet, Joan, Valencia, Alfonso, Esteller, Manel, Lázaro, Conxi, Kops, Geert J P L, Urioste, Miguel, Puente, Xose S, Capellá, Gabriel, Valle, Laura
Published in Molecular cancer (15.02.2018)
Published in Molecular cancer (15.02.2018)
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Molecular Nodal Restaging Based on CEACAM5, FGFR2b and PTPN11 Expression Adds No Relevant Clinical Information in Resected Non-Small Cell Lung Cancer
Macia, Ivan, Aiza, Gemma, Ramos, Ricard, Escobar, Ignacio, Rivas, Francisco, Ureña, Anna, Aso, Samantha, Rosado, Gabriela, Rodriguez-Taboada, Pau, Deniz, Carlos, Nadal, Ernest, Capella, Gabriel
Published in Journal of investigative surgery (01.02.2022)
Published in Journal of investigative surgery (01.02.2022)
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Wnt genes in colonic polyposis predisposition
Quintana, Isabel, Terradas, Mariona, Mur, Pilar, te Paske, Iris B.A.W., Peters, Sophia, Spier, Isabel, Steinke-Lange, Verena, Maestro, Claudia, Torrents, David, Puiggròs, Montserrat, Royo, Romina, Tonda, Raul, Parra, Genís, Piscia, Davide, Beltrán, Sergi, Navarro, Matilde, Piñol, Virginia, Brunet, Joan, Gonzalez-Abuin, Noemi, Aiza, Gemma, Sommer, Anna, van Herwaarden, Yasmijn, Astuti, Galuh, Holinski-Feder, Elke, Hoogerbrugge, Nicoline, de Voer, Richarda M., Aretz, Stefan, Capellá, Gabriel, Valle, Laura
Published in Genes & diseases (01.05.2023)
Published in Genes & diseases (01.05.2023)
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p53 and K-ras Gene Mutations Correlate With Tumor Aggressiveness But Are Not of Routine Prognostic Value in Colorectal Cancer
TORTOLA, S, MARCUELLO, E, GONZALEZ, I, REYES, G, ARRIBAS, R, AIZA, G, SANCHO, F. J, PEINADO, M. A, CAPELLA, G
Published in Journal of clinical oncology (01.05.1999)
Published in Journal of clinical oncology (01.05.1999)
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Determination of genomic damage in neuroblastic tumors by arbitrarily primed PCR: MYCN amplification as a marker for genomic instability in neuroblastomas
Muñoz, Jorge, Vendrell, Elisenda, Aiza, Gemma, Nistal, Manuel, Pestaña, Angel, Peinado, Miguel Angel, Castresana, Javier S.
Published in Neuropathology (01.06.2006)
Published in Neuropathology (01.06.2006)
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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
Bellido, Fernando, Pineda, Marta, Aiza, Gemma, Valdés-Mas, Rafael, Navarro, Matilde, Puente, Diana A., Pons, Tirso, González, Sara, Iglesias, Silvia, Darder, Esther, Piñol, Virginia, Soto, José Luís, Valencia, Alfonso, Blanco, Ignacio, Urioste, Miguel, Brunet, Joan, Lázaro, Conxi, Capellá, Gabriel, Puente, Xose S., Valle, Laura
Published in Genetics in medicine (01.04.2016)
Published in Genetics in medicine (01.04.2016)
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Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review
Belhadj, Sami, Terradas, Mariona, Munoz‐Torres, Pau M., Aiza, Gemma, Navarro, Matilde, Capellá, Gabriel, Valle, Laura
Published in Human mutation (01.09.2020)
Published in Human mutation (01.09.2020)
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Prospective Assessment of Allelic Losses at 4p14–16 in Colorectal Cancer: Two Mutational Patterns and a Locus Associated with Poorer Survival
ARRIBAS, R, RIBAS, M, RISQUES, R.-A, MASRAMON, L, TORTOLA, S, MARCUELLO, E, AIZA, G, MIR, R, CAPELLA, G, PEINADO, M. A
Published in Clinical cancer research (01.11.1999)
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Published in Clinical cancer research (01.11.1999)
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MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes
Terradas, Mariona, Gonzalez-Abuin, Noemi, García-Mulero, Sandra, Viana-Errasti, Julen, Aiza, Gemma, Piulats, Josep M, Brunet, Joan, Capellá, Gabriel, Valle, Laura
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
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Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1‐ and MSH3‐associated polyposes
Terradas, Mariona, Munoz‐Torres, Pau M., Belhadj, Sami, Aiza, Gemma, Navarro, Matilde, Brunet, Joan, Capellá, Gabriel, Valle, Laura
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
Valle, Laura, Hernández-Illán, Eva, Bellido, Fernando, Aiza, Gemma, Castillejo, Adela, Castillejo, María-Isabel, Navarro, Matilde, Seguí, Nuria, Vargas, Gardenia, Guarinos, Carla, Juarez, Miriam, Sanjuán, Xavier, Iglesias, Silvia, Alenda, Cristina, Egoavil, Cecilia, Segura, Ángel, Juan, María-José, Rodriguez-Soler, María, Brunet, Joan, González, Sara, Jover, Rodrigo, Lázaro, Conxi, Capellá, Gabriel, Pineda, Marta, Soto, José Luís, Blanco, Ignacio
Published in Human molecular genetics (01.07.2014)
Published in Human molecular genetics (01.07.2014)
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Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells
Andrianova, Maria A, Seplyarskiy, Vladimir B, Terradas, Mariona, Sánchez-Heras, Ana Beatriz, Mur, Pilar, Soto, José Luis, Aiza, Gemma, Borràs, Emma, Kondrashov, Fyodor A, Kondrashov, Alexey S, Bazykin, Georgii A, Valle, Laura
Published in European journal of human genetics : EJHG (01.07.2024)
Published in European journal of human genetics : EJHG (01.07.2024)
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Germline NPAT inactivating variants as cause of hereditary colorectal cancer
Terradas, Mariona, Schubert, Stephanie A, Viana-Errasti, Julen, Ruano, Dina, Aiza, Gemma, Nielsen, Maartje, Marciel, Paula, Tops, Carli M, Parra, Genís, Morreau, Hans, Torrents, David, van Leerdam, Monique E, Capellá, Gabriel, de Miranda, Noel F C C, Valle, Laura, van Wezel, Tom
Published in European journal of human genetics : EJHG (01.07.2024)
Published in European journal of human genetics : EJHG (01.07.2024)
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Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer
Bellido, Fernando, Sowada, Nadine, Mur, Pilar, Lázaro, Conxi, Pons, Tirso, Valdés-Mas, Rafael, Pineda, Marta, Aiza, Gemma, Iglesias, Silvia, Soto, José Luís, Urioste, Miguel, Caldés, Trinidad, Balbín, Milagros, Blay, Pilar, Rueda, Daniel, Durán, Mercedes, Valencia, Alfonso, Moreno, Victor, Brunet, Joan, Blanco, Ignacio, Navarro, Matilde, Calin, George A., Borck, Guntram, Puente, Xose S., Capellá, Gabriel, Valle, Laura
Published in Gastroenterology (New York, N.Y. 1943) (01.01.2018)
Published in Gastroenterology (New York, N.Y. 1943) (01.01.2018)
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Potential Involvement of NSD1 , KRT24 and ACACA in the Genetic Predisposition to Colorectal Cancer
Quintana, Isabel, Mur, Pilar, Terradas, Mariona, García-Mulero, Sandra, Aiza, Gemma, Navarro, Matilde, Piñol, Virginia, Brunet, Joan, Moreno, Victor, Sanz-Pamplona, Rebeca, Capellá, Gabriel, Valle, Laura
Published in Cancers (29.01.2022)
Published in Cancers (29.01.2022)
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Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants
Mur, Pilar, Bonifaci, Nuria, Díez-Villanueva, Anna, Munté, Elisabet, Alonso, Maria Henar, Obón-Santacana, Mireia, Aiza, Gemma, Navarro, Matilde, Piñol, Virginia, Brunet, Joan, Tomlinson, Ian, Capellá, Gabriel, Moreno, Victor, Valle, Laura
Published in Cancers (31.07.2021)
Published in Cancers (31.07.2021)
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Overall deregulation in gene expression as a novel indicator of tumor aggressiveness in colorectal cancer
TORTOLA, S, MARCUELLO, E, RISQUES, R.-A, GONZALEZ, S, AIZA, G, CAPELLA, G, PEINADO, M. A
Published in Oncogene (29.07.1999)
Published in Oncogene (29.07.1999)
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AMER1 Is a Frequently Mutated Gene in Colorectal Cancer--Letter
Mur, Pilar, Aiza, Gemma, Sanz-Pamplona, Rebeca, González, Sara, Navarro, Matilde, Moreno, Victor, Capellá, Gabriel, Valle, Laura
Published in Clinical cancer research (01.11.2015)
Published in Clinical cancer research (01.11.2015)
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