Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility

por Keupp, Katharina, Hampp, Stephanie, Hübbel, Annette, Maringa, Monika, Kostezka, Sarah, Rhiem, Kerstin, Waha, Anke, Wappenschmidt, Barbara, Pujol, Roser, Surrallés, Jordi, Schmutzler, Rita K., Wiesmüller, Lisa, Hahnen, Eric
Publicado 2019

TALEN mediated gene editing in a mouse model of Fanconi anemia

por Pino-Barrio, Maria José, Giménez, Yari, Villanueva, Mariela, Hildenbeutel, Marcus, Sánchez-Dominguez, Rebeca, Rodríguez-Perales, Sandra, Pujol, Roser, Surrallés, Jordi, Río, Paula, Cathomen, Toni, Mussolino, Claudio, Bueren, Juan Antonio, Navarro, Susana
Publicado 2020

Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia

por Casado, José A., Valeri, Antonio, Sanchez-Domínguez, Rebeca, Vela, Paula, López, Andrea, Navarro, Susana, Alberquilla, Omaira, Hanenberg, Helmut, Pujol, Roser, Segovia, José-Carlos, Minguillón, Jordi, Surrallés, Jordi, de Heredia, Cristina Díaz, Sevilla, Julián, Rio, Paula, Bueren, Juan A.
Publicado 2022

Clinical consequences of BRCA2 hypomorphism

por Castells-Roca, Laia, Gutiérrez-Enríquez, Sara, Bonache, Sandra, Bogliolo, Massimo, Carrasco, Estela, Aza-Carmona, Miriam, Montalban, Gemma, Muñoz-Subirana, Núria, Pujol, Roser, Cruz, Cristina, Llop-Guevara, Alba, Ramírez, María J., Saura, Cristina, Lasa, Adriana, Serra, Violeta, Diez, Orland, Balmaña, Judith, Surrallés, Jordi
Publicado 2021

Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia

por Lasaga, Miren, Río, Paula, Vilas-Zornoza, Amaia, Planell, Nuria, Navarro, Susana, Alignani, Diego, Fernández-Varas, Beatriz, Mouzo, Daniel, Zubicaray, Josune, Pujol, Roser M., Nicoletti, Eileen, Schwartz, Jonathan D., Sevilla, Julián, Ainciburi, Marina, Ullate-Agote, Asier, Surrallés, Jordi, Perona, Rosario, Sastre, Leandro, Prosper, Felipe, Gomez-Cabrero, David, Bueren, Juan A.
Publicado 2023

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes

por Gálvez, Eva, Vallespín, Elena, Arias-Salgado, Elena G., Sánchez-Valdepeñas, Carmen, Giménez, Yari, Navarro, Susana, Río, Paula, Bogliolo, Massimo, Pujol, Roser, Peiró, Montserrat, Nevado, Julián, Zubicaray, Josune, Sebastián, Elena, Catalá, Albert, Beléndez, Cristina, Díaz de Heredia, Cristina, Galera, Ana, Badell, Isabel, Madero, Luis, Perona, Rosario, Sastre, Leandro, Surrallés, Jordi, Bueren, Juan, Lapunzina, Pablo, Sevilla, Julián
Publicado 2021

CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival

por Minguillón, Jordi, Ramírez, María José, Rovirosa, Llorenç, Bustamante-Madrid, Pilar, Camps-Fajol, Cristina, Ruiz de Garibay, Gorka, Shimelis, Hermela, Montanuy, Helena, Pujol, Roser, Hernandez, Gonzalo, Bogliolo, Massimo, Castillo, Pau, Soucy, Penny, Martrat, Griselda, Gómez, Antonio, Cuadras, Daniel, García, María J., Gayarre, Javier, Lázaro, Conxi, Benítez, Javier, Couch, Fergus J., Pujana, Miquel Angel, Surrallés, Jordi
Publicado 2022

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1

por Hernández, Gonzalo, Ramírez, María José, Minguillón, Jordi, Quiles, Paco, Ruiz de Garibay, Gorka, Aza-Carmona, Miriam, Bogliolo, Massimo, Pujol, Roser, Prados-Carvajal, Rosario, Fernández, Juana, García, Nadia, López, Adrià, Gutiérrez-Enríquez, Sara, Diez, Orland, Benítez, Javier, Salinas, Mónica, Teulé, Alex, Brunet, Joan, Radice, Paolo, Peterlongo, Paolo, Schindler, Detlev, Huertas, Pablo, Puente, Xose S, Lázaro, Conxi, Pujana, Miquel Àngel, Surrallés, Jordi
Publicado 2018

Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes

por Sevilla, Julián, Navarro, Susana, Rio, Paula, Sánchez-Domínguez, Rebeca, Zubicaray, Josune, Gálvez, Eva, Merino, Eva, Sebastián, Elena, Azqueta, Carmen, Casado, José A., Segovia, José C., Alberquilla, Omaira, Bogliolo, Massimo, Román-Rodríguez, Francisco J., Giménez, Yari, Larcher, Lise, Salgado, Rocío, Pujol, Roser M., Hladun, Raquel, Castillo, Ana, Soulier, Jean, Querol, Sergi, Fernández, Jesús, Schwartz, Jonathan, García de Andoín, Nagore, López, Ricardo, Catalá, Albert, Surralles, Jordi, Díaz-de-Heredia, Cristina, Bueren, Juan A.
Publicado 2021

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

por Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesais, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Publicado 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

por Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesias, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Publicado 2018

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

por Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Lasheras, Sandra Viz, Pujol, Roser, Kiiski, Johanna I., Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E., Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guénel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamariña, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A.E.M., Torres, Diana, Troester, Melissa A., Truong, Thérèse, Tung, Nadine, Untch, Michael, Vachon, Celine M., van Rensburg, Elizabeth J., van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Dörk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surrallés, Jordi, Peterlongo, Paolo
Publicado 2019