Unexpected findings before hospital discharge in a patient implanted with a dual‐chamber pacemaker

par Arias, Miguel A., Sánchez‐Aguilera, Paula, Pachón, Marta
Publié dans J Arrhythm (2020)

GENETIC COUNSELLING IN MELANOMA

par Badenas, Celia, Aguilera, Paula, Puig-Butillé, Joan A., Carrera, Cristina, Malvehy, Josep, Puig, Susana
Publié 2012

The nuclear pore complex prevents sister chromatid recombination during replicative senescence

par Aguilera, Paula, Whalen, Jenna, Minguet, Christopher, Churikov, Dmitri, Freudenreich, Catherine, Simon, Marie-Noëlle, Géli, Vincent
Publié dans Nat Commun (2020)

Genetic alterations in RAS regulated pathway in Acral Lentiginous Melanoma

par Puig-Butillé, Joan Anton, Badenas, Celia, Ogbah, Zighereda, Carrera, Cristina, Aguilera, Paula, Malvehy, Josep, Puig, Susana
Publié 2013

Increased prevalence of lung, breast and pancreatic cancers in addition to melanoma risk in families bearing the CDKN2A mutation: Implications for genetic counseling

par Potrony, Miriam, Puig-Butillé, Joan Anton, Aguilera, Paula, Badenas, Celia, Carrera, Cristina, Malvehy, Josep, Puig, Susana
Publié dans J Am Acad Dermatol (2014)

Update in genetic susceptibility in melanoma

par Potrony, Miriam, Badenas, Celia, Aguilera, Paula, Puig-Butille, Joan Anton, Carrera, Cristina, Malvehy, Josep, Puig, Susana
Publié dans Ann Transl Med (2015)

Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study

par Pozo, Oscar J, Marcos, Josep, Fabregat, Andreu, Ventura, Rosa, Casals, Gregori, Aguilera, Paula, Segura, Jordi, To-Figueras, Jordi
Publié 2014

Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain

par Aguilera, Paula, Malvehy, Josep, Carrera, Cristina, Palou, Josep, Puig-Butillé, Joan Anton, Alòs, Llúcia, Badenas, Celia, Puig, Susana
Publié dans J Clin Exp Dermatol Res (2014)

Benefits of oral Polypodium Leucotomos extract in MM high risk patients

par Aguilera, Paula, Carrera, Cristina, Puig-Butille, Joan Anton, Badenas, Celia, Lecha, Mario, González, Salvador, Malvehy, Josep, Puig, Susana
Publié dans J Eur Acad Dermatol Venereol (2012)

Yra1-bound RNA–DNA hybrids cause orientation-independent transcription–replication collisions and telomere instability

par García-Rubio, María, Aguilera, Paula, Lafuente-Barquero, Juan, Ruiz, José F., Simon, Marie-Noelle, Geli, Vincent, Rondón, Ana G., Aguilera, Andrés
Publié dans Genes Dev (2018)

Dermoscopic Clues for Diagnosing Melanomas That Resemble Seborrheic Keratosis

par Carrera, Cristina, Segura, Sonia, Aguilera, Paula, Scalvenzi, Massimiliano, Longo, Caterina, Barreiro, Alicia, Broganelli, Paolo, Cavicchini, Stefano, Llambrich, Alex, Zaballos, Pedro, Thomas, Luc, Malvehy, Josep, Puig, Susana, Zalaudek, Iris
Publié dans JAMA Dermatol (2017)

Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q

par Potrony, Miriam, Puig-Butille, Joan Anton, Farnham, James M., Giménez-Xavier, Pol, Badenas, Celia, Tell-Martí, Gemma, Aguilera, Paula, Carrera, Cristina, Malvehy, Josep, Teerlink, Craig C., Puig, Susana
Publié dans Eur J Hum Genet (2018)

Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer

par Puig-Butille, Joan Anton, Escámez, María José, Garcia-Garcia, Francisco, Tell-Marti, Gemma, Fabra, Àngels, Martínez-Santamaría, Lucía, Badenas, Celia, Aguilera, Paula, Pevida, Marta, Dopazo, Joaquín, del Río, Marcela, Puig, Susana
Publié 2013

An epidemiological and molecular study regarding the spread of vancomycin-resistant Enterococcus faecium in a teaching hospital in Bogotá, Colombia 2016

par Corredor, Nancy Carolina, López, Carolina, Aguilera, Paula Andrea, Prieto, Lina María, Rodríguez-Leguizamón, Giovanni, Leal, Aura Lucía, Ovalle-Guerro, María Victoria, Pardo-Oviedo, Juan Mauricio, Chica, Claudia Elena, Patarroyo, Manuel Alfonso
Publié dans BMC Infect Dis (2019)

Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family

par Yang, Xiaohong R., Brown, Kevin, Landi, Maria T., Ghiorzo, Paola, Badenas, Celia, Xu, Mai, Hayward, Nicholas K., Calista, Donato, Landi, Giorgio, Bruno, William, Bianchi-Scarrà, Giovanna, Aguilera, Paula, Puig, Susana, Goldstein, Alisa M., Tucker, Margaret A.
Publié 2012

Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain

par Sargen, Michael R., Calista, Donato, Elder, David E., Massi, Daniela, Chu, Emily Y., Potrony, Míriam, Pfeiffer, Ruth M., Carrera, Cristina, Aguilera, Paula, Alos, Llucia, Puig, Susana, Elenitsas, Rosalie, Yang, Xiaohong R., Tucker, Margaret A., Landi, Maria Teresa, Goldstein, Alisa M.
Publié dans J Am Acad Dermatol (2020)

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

par Wong, Kim, Robles-Espinoza, Carla Daniela, Rodriguez, David, Rudat, Saskia S., Puig, Susana, Potrony, Miriam, Wong, Chi C., Hewinson, James, Aguilera, Paula, Puig-Butille, Joan Anton, Bressac-de Paillerets, Brigitte, Zattara, Hélène, van der Weyden, Louise, Fletcher, Christopher D. M., Brenn, Thomas, Arends, Mark J., Quesada, Víctor, Newton-Bishop, Julia A., Lopez-Otin, Carlos, Bishop, D. Timothy, Harms, Paul W., Johnson, Timothy M., Durham, Alison B., Lombard, David B., Adams, David J.
Publié dans JAMA Dermatol (2018)

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom

par Harland, Mark, Cust, Anne E, Badenas, Celia, Chang, Yu-Mei, Holland, Elizabeth A, Aguilera, Paula, Aitken, Joanne F, Armstrong, Bruce K, Barrett, Jennifer H, Carrera, Cristina, Chan, May, Gascoyne, Joanne, Giles, Graham G, Agha-Hamilton, Chantelle, Hopper, John L, Jenkins, Mark A, Kanetsky, Peter A, Kefford, Richard F, Kolm, Isabel, Lowery, Johanna, Malvehy, Josep, Ogbah, Zighereda, Puig-Butille, Joan-Anton, Orihuela-Segalés, Jordi, Randerson-Moor, Juliette A, Schmid, Helen, Taylor, Claire F, Whitaker, Linda, Bishop, D Timothy, Mann, Graham J, Newton-Bishop, Julia A, Puig, Susana
Publié dans Hered Cancer Clin Pract (2014)

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

par Puig, Susana, Potrony, Miriam, Cuellar, Francisco, Puig-Butille, Joan Anton, Carrera, Cristina, Aguilera, Paula, Nagore, Eduardo, Garcia-Casado, Zaida, Requena, Celia, Kumar, Rajiv, Landman, Gilles, Costa Soares de Sá, Bianca, Gargantini Rezze, Gisele, Facure, Luciana, de Avila, Alexandre Leon Ribeiro, Achatz, Maria Isabel, Carraro, Dirce Maria, Duprat Neto, João Pedreira, Grazziotin, Thais C., Bonamigo, Renan R., Rey, Maria Carolina W., Balestrini, Claudia, Morales, Enrique, Molgo, Montserrat, Bakos, Renato Marchiori, Ashton-Prolla, Patricia, Giugliani, Roberto, Larre Borges, Alejandra, Barquet, Virginia, Pérez, Javiera, Martínez, Miguel, Cabo, Horacio, Cohen Sabban, Emilia, Latorre, Clara, Carlos-Ortega, Blanca, Salas-Alanis, Julio C, Gonzalez, Roger, Olazaran, Zulema, Malvehy, Josep, Badenas, Celia
Publié dans Genet Med (2016)

Genetic insights into biological mechanisms governing human ovarian ageing

par Ruth, Katherine S, Day, Felix R, Hussain, Jazib, Martínez-Marchal, Ana, Aiken, Catherine E, Azad, Ajuna, Thompson, Deborah J, Knoblochova, Lucie, Abe, Hironori, Tarry-Adkins, Jane L, Gonzalez, Javier Martin, Fontanillas, Pierre, Claringbould, Annique, Bakker, Olivier B, Sulem, Patrick, Walters, Robin G, Terao, Chikashi, Turon, Sandra, Horikoshi, Momoko, Lin, Kuang, Onland-Moret, N Charlotte, Sankar, Aditya, Hertz, Emil Peter Thrane, Timshel, Pascal N, Shukla, Vallari, Borup, Rehannah, Olsen, Kristina W, Aguilera, Paula, Ferrer-Roda, Mònica, Huang, Yan, Stankovic, Stasa, Timmers, Paul RHJ, Ahearn, Thomas U, Alizadeh, Behrooz Z, Naderi, Elnaz, Andrulis, Irene L, Arnold, Alice M, Aronson, Kristan J, Augustinsson, Annelie, Bandinelli, Stefania, Barbieri, Caterina M, Beaumont, Robin N, Becher, Heiko, Beckmann, Matthias W, Benonisdottir, Stefania, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E, Bolla, Manjeet K, Boomsma, Dorret I, Bowker, Nicholas, Brody, Jennifer A, Broer, Linda, Buring, Julie E, Campbell, Archie, Campbell, Harry, Castelao, Jose E, Catamo, Eulalia, Chanock, Stephen J, Chenevix-Trench, Georgia, Ciullo, Marina, Corre, Tanguy, Couch, Fergus J, Cox, Angela, Crisponi, Laura, Cross, Simon S, Cucca, Francesco, Czene, Kamila, Smith, George Davey, de Geus, Eco JCN, de Mutsert, Renée, de Vivo, Immaculata, Demerath, Ellen W, Dennis, Joe, Dunning, Alison M, Dwek, Miriam, Eriksson, Mikael, Esko, Tõnu, Fasching, Peter A, Faul, Jessica D, Ferrucci, Luigi, Franceschini, Nora, Frayling, Timothy M, Gago-Dominguez, Manuela, Mezzavilla, Massimo, García-Closas, Montserrat, Gieger, Christian, Giles, Graham G, Grallert, Harald, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Guénel, Pascal, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hayward, Caroline, He, Chunyan, He, Wei, Heiss, Gerardo, Høffding, Miya K, Hopper, John L, Hottenga, Jouke J, Hu, Frank, Hunter, David, Ikram, Mohammad A, Jackson, Rebecca D, Joaquim, Micaella DR, John, Esther M, Joshi, Peter K, Karasik, David, Kardia, Sharon LR, Kartsonaki, Christiana, Karlsson, Robert, Kitahara, Cari M, Kolcic, Ivana, Kooperberg, Charles, Kraft, Peter, Kurian, Allison W, Kutalik, Zoltan, Bianca, Martina La, LaChance, Genevieve, Langenberg, Claudia, Launer, Lenore J, Laven, Joop SE, Lawlor, Deborah A, Marchand, Loic Le, Li, Jingmei, Lindblom, Annika, Lindstrom, Sara, Lindstrom, Tricia, Linet, Martha, Liu, YongMei, Liu, Simin, Luan, Jian’an, Mägi, Reedik, Magnusson, Patrik KE, Mangino, Massimo, Mannermaa, Arto, Marco, Brumat, Marten, Jonathan, Martin, Nicholas G, Mbarek, Hamdi, McKnight, Barbara, Medland, Sarah E, Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Metspalu, Andres, Milani, Lili, Milne, Roger L, Montgomery, Grant W, Mook-Kanamori, Dennis O, Mulas, Antonella, Mulligan, Anna M, Murray, Alison, Nalls, Mike A, Newman, Anne, Noordam, Raymond, Nutile, Teresa, Nyholt, Dale R, Olshan, Andrew F, Olsson, Håkan, Painter, Jodie N, Patel, Alpa V, Pedersen, Nancy L, Perjakova, Natalia, Peters, Annette, Peters, Ulrike, Pharoah, Paul DP, Polasek, Ozren, Porcu, Eleonora, Psaty, Bruce M, Rahman, Iffat, Rennert, Gad, Rennert, Hedy S, Ridker, Paul M, Ring, Susan M, Robino, Antonietta, Rose, Lynda M, Rosendaal, Frits R, Rossouw, Jacques, Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Sala, Cinzia F, Saloustros, Emmanouil, Sandler, Dale P, Sanna, Serena, Sawyer, Elinor J, Sarnowski, Chloé, Schlessinger, David, Schmidt, Marjanka K, Schoemaker, Minouk J, Schraut, Katharina E, Scott, Christopher, Shekari, Saleh, Shrikhande, Amruta, Smith, Albert V, Smith, Blair H, Smith, Jennifer A, Sorice, Rossella, Southey, Melissa C, Spector, Tim D, Spinelli, John J, Stampfer, Meir, Stöckl, Doris, van Meurs, Joyce BJ, Strauch, Konstantin, Styrkarsdottir, Unnur, Swerdlow, Anthony J, Tanaka, Toshiko, Teras, Lauren R, Teumer, Alexander, Porsteinsdottir, Unnur, Timpson, Nicholas J, Toniolo, Daniela, Traglia, Michela, Troester, Melissa A, Truong, Thérèse, Tyrrell, Jessica, Uitterlinden, André G, Ulivi, Sheila, Vachon, Celine M, Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Wang, Qin, Wareham, Nicholas J, Weinberg, Clarice R, Weir, David R, Wilcox, Amber N, van Dijk, Ko Willems, Willemsen, Gonneke, Wilson, James F, Wolffenbuttel, Bruce HR, Wolk, Alicja, Wood, Andrew R, Zhao, Wei, Zygmunt, Marek, Chen, Zhengming, Li, Liming, Franke, Lude, Burgess, Stephen, Deelen, Patrick, Pers, Tune H, Grøndahl, Marie Louise, Andersen, Claus Yding, Pujol, Anna, Lopez-Contreras, Andres J, Daniel, Jeremy A, Stefansson, Kari, Chang-Claude, Jenny, van der Schouw, Yvonne T, Lunetta, Kathryn L, Chasman, Daniel I, Easton, Douglas F, Visser, Jenny A, Ozanne, Susan E, Namekawa, Satoshi H, Solc, Petr, Murabito, Joanne M, Ong, Ken K, Hoffmann, Eva R, Murray, Anna, Roig, Ignasi, Perry, John RB
Publié dans Nature (2021)