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1
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Novel Variants in the MC4R and LEPR Genes among Severely Obese Children from the Iberian Population

Albuquerque, David ; Estévez, Manuela Núñez ; Víbora, Pilar Beato ; Giralt, Plácida Sánchez ; Balsera, Aránzazu Margallo ; Cortés, Pedro Gil ; López, Mercedes Jiménez ; Luego, Luis Miguel ; Gervasini, Guillermo ; Hernández, Sergio Barroso ; Arroyo‐Díez, Javier ; Vacas, Manuel Arrobas ; Nóbrega, Clévio ; Manco, Licínio ; Rodríguez‐López, Raquel

Annals of Human Genetics, May 2014, Vol.78(3), pp.195-207 [Rivista Peer Reviewed]

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Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Blanco, Ignacio ; Kuchenbaecker, Karoline ; Cuadras, Daniel ; Wang, Xianshu ; Barrowdale, Daniel ; De Garibay, Gorka Ruiz ; Librado, Pablo ; Sánchez-Gracia, Alejandro ; Rozas, Julio ; Bonifaci, Núria ; Mcguffog, Lesley ; Pankratz, Vernon S ; Islam, Abul ; Mateo, Francesca ; Berenguer, Antoni ; Petit, Anna ; Català, Isabel

PloS one, 2015, Vol.10(4), pp.e0120020 [Rivista Peer Reviewed]

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The variant E233G of the RAD51D gene could be a low‐penetrance allele in high‐risk breast cancer families without BRCA1/2 mutations

Rodríguez‐López, Raquel ; Osorio, Ana ; Ribas, Gloria ; Pollán, Marina ; Sánchez‐Pulido, Luis ; De La Hoya, Miguel ; Ruibal, Álvaro ; Zamora, Pilar ; Arias, Jose Ignacio ; Salazar, Raquel ; Vega, Ana ; Martínez, Jose Ignacio ; Esteban‐Cardeñosa, Eva ; Alonso, Carmen ; Letón, Rocío ; Urioste Azcorra, Miguel ; Miner, Cristina ; Armengod, M. Eugenia ; Carracedo, Angel ; González‐Sarmiento, Rogelio ; Caldés, Trinidad ; Díez, Orland ; Benítez, Javier

International Journal of Cancer, 20 July 2004, Vol.110(6), pp.845-849 [Rivista Peer Reviewed]

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Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Kuchenbaecker, Karoline B ; Mcguffog, Lesley ; Barrowdale, Daniel ; Lee, Andrew ; Soucy, Penny ; Healey, Sue ; Dennis, Joe ; Lush, Michael ; Robson, Mark ; Spurdle, Amanda B ; Ramus, Susan J ; Mavaddat, Nasim ; Terry, Mary Beth ; Neuhausen, Susan L ; Hamann, Ute ; Southey, Melissa ; John, Esther M ; Chung, Wendy K ; Daly, Mary B ; Buys, Saundra S ; Goldgar, David E ; Dorfling, Cecilia M ; Van Rensburg, Elizabeth J ; Ding, Yuan Chun ; Ejlertsen, Bent ; Gerdes, Anne - Marie ; Hansen, Thomas V. O ; Slager, Susan ; Hallberg, Emily ; Benitez, Javier ; Osorio, Ana ; Cohen, Nancy ; Lawler, William ; Weitzel, Jeffrey N ; Peterlongo, Paolo ; Pensotti, Valeria ; Dolcetti, Riccardo ; Barile, Monica ; Bonanni, Bernardo ; Azzollini, Jacopo ; Manoukian, Siranoush ; Peissel, Bernard ; Radice, Paolo ; Savarese, Antonella ; Papi, Laura ; Giannini, Giuseppe ; Fostira, Florentia ; Konstantopoulou, Irene ; Adlard, Julian ; Brewer, Carole ; Cook, Jackie ; Davidson, Rosemarie ; Eccles, Diana ; Eeles, Ros ; Ellis, Steve ; Frost, Debra ; Hodgson, Shirley ; Izatt, Louise ; Lalloo, Fiona ; Ong, Kai - Ren ; Godwin, Andrew K ; Arnold, Norbert ; Dworniczak, Bernd ; Engel, Christoph ; Gehrig, Andrea ; Hahnen, Eric ; Hauke, Jan ; Kast, Karin ; Meindl, Alfons ; Niederacher, Dieter ; Schmutzler, Rita Katharina ; Varon - Mateeva, Raymonda ; Wang - Gohrke, Shan ; Wappenschmidt, Barbara ; Barjhoux, Laure ; Collonge - Rame, Marie - Agnès ; Elan, Camille ; Golmard, Lisa ; Barouk - Simonet, Emmanuelle ; Lesueur, Fabienne ; Mazoyer, Sylvie ; Sokolowska, Joanna ; Stoppa - Lyonnet, Dominique ; Isaacs, Claudine ; Claes, Kathleen B. M ; Poppe, Bruce ; De La Hoya, Miguel ; Garcia - Barberan, Vanesa ; Aittomäki, Kristiina ; Nevanlinna, Heli ; Ausems, Margreet G. E. M ; De Lange, J. L ; Gómez Garcia, Encarna B ; Hogervorst, Frans B. L ; Kets, Carolien M ; Meijers - Heijboer, Hanne E. J ; Oosterwijk, Jan C ; Rookus, Matti A ; Van Asperen, Christi J ; Van Den Ouweland, Ans M. W ; Van Doorn, Helena C ; Van Os, Theo A. M ; Kwong, Ava ; Olah, Edith ; Diez, Orland ; Brunet, Joan ; Lazaro, Conxi ; Teulé, Alex ; Gronwald, Jacek ; Jakubowska, Anna ; Kaczmarek, Katarzyna ; Lubinski, Jan ; Sukiennicki, Grzegorz ; Barkardottir, Rosa B ; Chiquette, Jocelyne ; Agata, Simona ; Montagna, Marco ; Teixeira, Manuel R ; Park, Sue Kyung ; Olswold, Curtis ; Tischkowitz, Marc ; Foretova, Lenka ; Gaddam, Pragna ; Vijai, Joseph ; Pfeiler, Georg ; Rappaport - Fuerhauser, Christine ; Singer, Christian F ; Tea, Muy - Kheng M ; Greene, Mark H ; Loud, Jennifer T ; Rennert, Gad ; Imyanitov, Evgeny N ; Hulick, Peter J ; Hays, John L ; Piedmonte, Marion ; Rodriguez, Gustavo C ; Martyn, Julie ; Glendon, Gord ; Mulligan, Anna Marie ; Andrulis, Irene L ; Toland, Amanda Ewart ; Jensen, Uffe Birk ; Kruse, Torben A ; Pedersen, Inge Sokilde ; Thomassen, Mads ; Caligo, Maria A ; Teo, Soo - Hwang ; Berger, Raanan ; Friedman, Eitan ; Laitman, Yael ; Arver, Brita ; Borg, Ake ; Ehrencrona, Hans ; Rantala, Johanna ; Olopade, Olufunmilayo I ; Ganz, Patricia A ; Nussbaum, Robert L ; Bradbury, Angela R ; Domchek, Susan M ; Nathanson, Katherine L ; Arun, Banu K ; James, Paul ; Karlan, Beth Y ; Lester, Jenny ; Simard, Jacques ; Pharoah, Paul D. P ; Offit, Kenneth ; Couch, Fergus J ; Chenevix - Trench, Georgia ; Easton, Douglas F ; Antoniou, Antonis C

JNCI: Journal of the National Cancer Institute, 2017, Vol. 109(7) [Rivista Peer Reviewed]

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Kuchenbaecker, Karoline B ; Ramus, Susan J ; Tyrer, Jonathan ; Lee, Andrew ; Shen, Howard C ; Beesley, Jonathan ; Lawrenson, Kate ; Mcguffog, Lesley ; Healey, Sue ; Lee, Janet M ; Spindler, Tassja J ; Lin, Yvonne G ; Pejovic, Tanja ; Bean, Yukie ; Li, Qiyuan ; Coetzee, Simon ; Hazelett, Dennis ; Miron, Alexander ; Southey, Melissa ; Terry

Nature genetics, February 2015, Vol.47(2), pp.164-71 [Rivista Peer Reviewed]

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Identification of mutations associated with acquired resistance to sunitinib in renal cell cancer

Elgendy, Mohamed ; Fusco, Juan Pablo ; Segura, Victor ; Lozano, Maria Dolores ; Minucci, Saverio ; Echeveste, Jose Ignacio ; Gurpide, Alfonso ; Andueza, Mapi ; Melero, Ignacio ; Sanmamed, Miguel F. ; Ruiz, Maria Rodriguez ; Calvo, Alfonso ; Pascual, Juan Ignacio ; Velis, Jose María ; Miñana, Bernardino ; Valle, Ricardo Diez ; Pio, Ruben ; Agorreta, Jackeline ; Abengozar, Marta ; Colecchia, Maurizio ; Brich, Silvia ; Renne, Salvatore Lorenzo ; Guruceaga, Elisabet ; Patiño‐García, Ana ; Perez‐Gracia, Jose Luis

International Journal of Cancer, 01 October 2019, Vol.145(7), pp.1991-2001 [Rivista Peer Reviewed]

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International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Peixoto, Ana ; Santos, Catarina ; Pinheiro, Manuela ; Pinto, Pedro ; Soares, Maria ; Rocha, Patrícia ; Gusmão, Leonor ; Amorim, António ; Hout, Annemarie ; Gerdes, Anne-Marie ; Thomassen, Mads ; Kruse, Torben ; Cruger, Dorthe ; Sunde, Lone ; Bignon, Yves-Jean ; Uhrhammer, Nancy ; Cornil, Lucie ; Rouleau, Etienne ; Lidereau, Rosette ; Yannoukakos, Drakoulis ; Pertesi, Maroulio ; Narod, Steven ; Royer, Robert ; Costa, Maurício ; Lazaro, Conxi ; Feliubadaló, Lidia ; Graña, Begoña ; Blanco, Ignacio ; la Hoya, Miguel ; Caldés, Trinidad ; Maillet, Philippe ; Benais-Pont, Gaelle ; Pardo, Bruno ; Laitman, Yael ; Friedman, Eitan ; Velasco, Eladio ; Durán, Mercedes ; Miramar, Maria-Dolores ; Valle, Ana ; Calvo, María-Teresa ; Vega, Ana ; Blanco, Ana ; Diez, Orland ; Gutiérrez-Enríquez, Sara ; Balmaña, Judith ; Ramon y Cajal, Teresa ; Alonso, Carmen ; Baiget, Montserrat ; Foulkes, William ; Tischkowitz, Marc ; Kyle, Rachel ; Sabbaghian, Nelly ; Ashton-Prolla, Patricia ; Ewald, Ingrid ; Rajkumar, Thangarajan ; Mota-Vieira, Luisa ; Giannini, Giuseppe ; Gulino, Alberto ; Achatz, Maria ; Carraro, Dirce ; Paillerets, Brigitte ; Remenieras, Audrey ; Benson, Cindy ; Casadei, Silvia ; King, Mary-Claire ; Teugels, Erik ; Teixeira, Manuel

Breast Cancer Research and Treatment, 2011, Vol.127(3), pp.671-679 [Rivista Peer Reviewed]

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Identification and characterization of a new oncogene derived from the regulatory subunit of phosphoinositide 3‐kinase

Jimenez, Concepción ; Jones, David R. ; Rodríguez‐Viciana, Pablo ; Gonzalez‐García, Ana ; Leonardo, Esther ; Wennström, Stefan ; Von Kobbe, Cayetano ; Toran, Jose L. ; R‐Borlado, Luis ; Calvo, Victor ; Copin, Sergio G. ; Albar, Juan P. ; Gaspar, M. Luisa ; Diez, Emilio ; Marcos, Miguel A. R. ; Downward, Julian ; Martinez‐A, Carlos ; Mérida, Isabel ; Carrera, Ana C.

EMBO Journal, 01 February 1998, Vol.17(3), pp.743-753 [Rivista Peer Reviewed]

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LRP10 in α-synucleinopathies

Kia, Demis A ; Sabir, Marya S ; Ahmed, Sarah ; Trinh, Joanne ; Bandres-Ciga, Sara ; Noyce, Alastair J ; Kaiyrzhanov, Rauan ; Middlehurst, Ben ; Kia, Demis A ; Tan, Manuela ; Houlden, Henry ; Morris, Huw R ; Plun-Favreau, Helene ; Holmans, Peter ; Hardy, John ; Trabzuni, Daniah ; Bras, Jose ; Quinn, John ; Mok, Kin Y ; Kinghorn, Kerri J ; Billingsley, Kimberley ; Wood, Nicholas W ; Lewis, Patrick ; Schreglmann, Sebastian ; Guerreiro, Rita ; Lovering, Ruth ; R'Bibo, Lea ; Rizig, Mie ; Ryten, Mina ; Guelfi, Sebastian ; Escott-Price, Valentina ; Chelban, Viorica ; Foltynie, Thomas ; Williams, Nigel ; Brice, Alexis ; Danjou, Fabrice ; Lesage, Suzanne ; Corvol, Jean-Christophe ; Martinez, Maria ; Schulte, Claudia ; Brockmann, Kathrin ; Simón-Sánchez, Javier ; Heutink, Peter ; Rizzu, Patrizia ; Sharma, Manu ; Gasser, Thomas ; Nicolas, Aude ; Cookson, Mark R ; Bandres-Ciga, Sara ; Blauwendraat, Cornelis ; Craig, David W ; Faghri, Faraz ; Gibbs, Raphael J ; Hernandez, Dena G ; Van Keuren-Jensen, Kendall ; Shulman, Joshua M ; Iwaki, Hirotaka ; Leonard, Hampton L ; Nalls, Mike A ; Robak, Laurie ; Lubbe, Steven ; Finkbeiner, Steven ; Mencacci, Niccolo E ; Lungu, Codrin ; Singleton, Andrew B ; Scholz, Sonja W ; Reed, Xylena ; Alcalay, Roy N ; Gan-Or, Ziv ; Rouleau, Guy A ; van Hilten, Jacobus J ; Marinus, Johan ; Adarmes-Gómez, Astrid D ; Aguilar, Miquel ; Alvarez, Ignacio ; Alvarez, Victoria ; Barrero, Francisco J ; Bergareche Yarza, Jesús A ; Bernal-Bernal, Inmaculada ; Blazquez, Marta ; Bonilla-Toribio, Marta ; Botía, Juan A ; Boungiorno, María Teresa ; Buiza-Rueda, Dolores ; Cámara, Ana ; Carrillo, Fátima ; Carrión-Claro, Mario ; Cerdan, Debora ; Clarimón, Jordi ; Diez-Farien, Monica ; Dols-Icardo, Oriol ; Duarte, Jacinto ; Duran, Raquel ; Escamilla-Sevilla, Francisco ; Ezquerra, Mario ; Feliz, Cici ; Fernández, Manel ; Fernández-Santiago, Rubén ; Garcia, Ciara ; García-Ruiz, Pedro ; Gómez-Garre, Pilar ; Gomez Heredia, Maria Jose ; Gonzalez-Aramburu, Isabel ; Gorostidi Pagola, Ana ; Hoenicka, Janet ; Infante, Jon ; Jesús, Silvia ; Jimenez-Escrig, Adriano ; Kulisevsky, Jaime ; Labrador-Espinosa, Miguel A ; Lopez-Sendon, Jose L ; López de Munain Arregui, Adolfo ; Macias, Daniel ; Martínez Torres, Irene ; Marín, Juan ; Marti, Maria Jose ; Martínez- Castrillo, Juan Carlos ; Méndez-Del-Barrio, Carlota ; Menéndez González, Manuel ; Mata, Marina ; Mínguez, Adolfo ; Mir, Pablo ; Mondragon Rezola, Elisabet ; Muñoz, Esteban ; Pagonabarraga, Javier ; Pastor, Pau ; Perez Errazquin, Francisco ; Periñán-Tocino, Teresa ; Ruiz-Martínez, Javier ; Ruz, Clara ; Sanchez Rodriguez, Antonio ; Sierra, María ; Suarez-Sanmartin, Esther ; Tabernero, Cesar ; Tartari, Juan Pablo ; Tejera-Parrado, Cristina ; Tolosa, Eduard ; Valldeoriola, Francesc ; Vargas-González, Laura ; Vela, Lydia ; Vives, Francisco ; Zimprich, Alexander ; Pihlstrom, Lasse ; Toft, Mathias ; Koks, Sulev ; Taba, Pille ; Hassin-Baer, Sharon

The Lancet Neurology, December 2018, Vol.17(12), pp.1032-1032 [Rivista Peer Reviewed]

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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects

Díez, Orland ; Osorio, Ana ; Durán, Mercedes ; Martinez-Ferrandis, José Ignacio ; De La Hoya, Miguel ; Salazar, Raquel ; Vega, Ana ; Campos, Berta ; Rodríguez-López, Raquel ; Velasco, Eladio ; Chaves, Javier ; Díaz-Rubio, Eduardo ; Jesús Cruz

Human mutation, October 2003, Vol.22(4), pp.301-12 [Rivista Peer Reviewed]

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