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Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations Climent-Canto, Paula; Subirana-Granes, Marc; Ramos-Rodriguez, Mireia; Damaso, Estela; Marin, Fatima; Vara, Covadonga; Perez-Gonzalez, Beatriz; Raurell, Helena; Munte, Elisabet; Soto, Jose Luis; Alonso, Angel; Shin, Giwon; Ji, Hanlee; Hitchins, Megan; Capella, Gabriel; Pasquali, Lorenzo; Pineda, Marta 分享 收藏
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G.; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi 分享 收藏
Genome-wide association study of stage III/IV grade C periodontitis (former aggressive periodontitis) in a Spanish population de Coo, Alicia; Cruz, Raquel; Quintela, Ines; Herrera, David; Sanz, Mariano; Diz, Pedro; Rodriguez Grandio, Segundo; Vallcorba, Nuria; Ramos, Isabel; Oteo, Alfonso; Serrano, Cristina; Esmatges, Alejandro; Enrile, Francisco; Mateos, Leopoldo; Garcia, Roberto; Alvarez-Novoa, Pablo; Noguerol, Blas; Zabalegui, Ion; Blanco-Moreno, Jose; Alonso, Angel; Lorenzo, Ramon; Carracedo, Angel; Blanco, Juan 分享 收藏
Duodenal Adenomas and Cancer in MUTYH-associated Polyposis: An International Cohort Study Thomas, Laura E.; Hurley, Joanna J.; Sanchez, Angel Alonso; Aznarez, M. Rosario; Backman, Ann-Sofie; Bjork, Jan; Capella, Gabriel; Clark, Susan K.; Colas, Chrystelle; Dekker, Evelien; Dolwani, Sunil; Ghorbanoghli, Zeinab; Gonn, Mark; Romero, S. Gonzalez; Hes, Frederik J.; Jundi, Hala; Kelland, Sarah; Latchford, Andrew R.; Brito, Helena Leon; Lynch, Patrick M.; Meuser, Elena; Mork, Maureen E.; Mort, Matthew; Garcia, M. Navarro; Nielsen, Maartje; Parc, Yann; Ricci, Maria T.; Saurin, Jean-Christophe; van der Tuin, Karin; Vasen, Hans; Vilar, Eduardo; Vinet, Olivier; Vitellaro, Marco; Walton, Sarah-Jane; West, Hannah D.; Sampson, Julian R. 分享 收藏
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CSVS, a crowdsourcing database of the Spanish population genetic variability Pena-Chilet, Maria; Roldan, Gema; Perez-Florido, Javier; Ortuno, Francisco M.; Carmona, Rosario; Aquino, Virginia; Lopez-Lopez, Daniel; Loucera, Carlos; Fernandez-Rueda, Jose L.; Gallego, Asuncion; Garcia-Garcia, Francisco; Gonzalez-Neira, Anna; Pita, Guillermo; Nunez-Torres, Rocio; Santoyo-Lopez, Javier; Ayuso, Carmen; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Moreno-Pelayo, Miguel Angel; Morin, Matias; Gallego-Martinez, Alvaro; Lopez-Escamez, Jose A.; Borrego, Salud; Antinolo, Guillermo; Amigo, Jorge; Salgado-Garrido, Josefa; Pasalodos-Sanchez, Sara; Morte, Beatriz; Carracedo, Angel; Alonso, Angel; Dopazo, Joaquin 分享 收藏
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The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome 曼彻斯特国际共识小组关于林奇综合征妇科癌症管理的建议 Crosbie, Emma J.; Ryan, Neil A. J.; Arends, Mark J.; Bosse, Tjalling; Burn, John; Cornes, Joanna M.; Crawford, Robin; Eccles, Diana; Frayling, Ian M.; Ghaem-Maghami, Sadaf; Hampel, Heather; Kauff, Noah D.; Kitchener, Henry C.; Kitson, Sarah J.; Manchanda, Ranjit; McMahon, Raymond F. T.; Monahan, Kevin J.; Menon, Usha; Moller, Pal; Moslein, Gabriela; Rosenthal, Adam; Sasieni, Peter; Seif, Mourad W.; Singh, Naveena; Skarrott, Pauline; Snowsill, Tristan M.; Steele, Robert; Tischkowitz, Marc; Evans, D. Gareth; Sanchez, Angel Alonso; Bolton, James; Church, David; Donnelly, Karen; Edmondson, Richard J.; Gollop, Paula; Goodman, Selina; Hodgson, Shirley; Lalloo, Fiona; Lowry, Anne; Mcvey, Rhona J.; Miles, Tracie; Monahan, Kevin J.; Stormoken, Astrid; Stringfellow, Helen; Wallace, Andrew; Whyte, Luciya; Wilkinson, Nafisa; Wilson, Godfrey; Wilson, Jo; Wood, Nick 分享 收藏
Primary constitutional MLH1 epimutations: a focal epigenetic event 主要的宪法MLH1表观突变: 局灶性表观遗传事件 Damaso, Estela; Castillejo, Adela; del Mar Arias, Maria; Canet-Hermida, Julia; Navarro, Matilde; del Valle, Jesus; Campos, Olga; Fernandez, Anna; Marin, Fatima; Turchetti, Daniela; de Dios Garcia-Diaz, Juan; Lazaro, Conxi; Genuardi, Maurizio; Rueda, Daniel; Alonso, Angel; Luis Soto, Jose; Hitchins, Megan; Pineda, Marta; Capella, Gabriel 分享 收藏
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A next generation sequencing based microsatellite instability assay suitable for routine risk stratification in colorectal cancer Alhilal, Ghanim; Redford, Lisa; Alonso, Angel; Moreno, Sira; Arends, Mark; Oniscu, Anca; O'Brien, Ottilia; Needham, Stephanie; Burn, John; Jackson, Michael; Santibanez-Koref, Mauro 分享 收藏
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MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families Borras, Ester; Pineda, Marta; Blanco, Ignacio; Jewett, Ethan M.; Wang, Fei; Teule, Alex; Caldes, Trinidad; Urioste, Miguel; Martinez-Bouzas, Cristina; Brunet, Joan; Balmana, Judith; Torres, Asuncion; Ramon y Cajal, Teresa; Sanz, Judit; Perez-Cabornero, Lucia; Castellvi-Bel, Sergi; Alonso, Angel; Lanas, Angel; Gonzalez, Sara; Moreno, Victor; Gruber, Stephen B.; Rosenberg, Noah A.; Mukherjee, Bhramar; Lazaro, Conxi; Capella, Gabriel 分享 收藏
Quantification of Sequence Exchange Events between PMS2 and PMS2CL Provides a Basis for Improved Mutation Scanning of Lynch Syndrome Patients van der Klift, Heleen M.; Tops, Carli M. J.; Bik, Elsa C.; Boogaard, Merel W.; Borgstein, Anne-Marijke; Hansson, Kerstin B. M.; Ausems, Margreet G. E. M.; Garcia, Encarna Gomez; Green, Andrew; Hes, Frederik J.; Izatt, Louise; van Hest, Liselotte P.; Alonso, Angel M.; Vriends, Annette H. J. T.; Wagner, Anja; van Zelst-Stams, Wendy A. G.; Vasen, Hans F. A.; Morreau, Hans; Devilee, Peter; Wijnen, Juul T. 分享 收藏
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds Grindedal, Eli Marie; Renkonen-Sinisalo, Laura; Vasen, Hans; Evans, Gareth; Sala, Paola; Blanco, Ignacio; Gronwald, Jacek; Apold, Jaran; Eccles, Diana M.; Alonso Sanchez, Angel; Sampson, Julian; Jarvinen, Heikki J.; Bertario, Lucio; Crawford, Gillian C.; Stormorken, Astrid Tenden; Maehle, Lovise; Moller, Pal 分享 收藏
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) Vasen, H. F. A.; Moslein, G.; Alonso, A.; Bernstein, I.; Bertario, L.; Blanco, I.; Burn, J.; Capella, G.; Engel, C.; Frayling, I.; Friedl, W.; Hes, F. J.; Hodgson, S.; Mecklin, J-P; Moller, P.; Nagengast, F.; Parc, Y.; Renkonen-Sinisalo, L.; Sampson, J. R.; Stormorken, A.; Wijnen, J. 分享 收藏
The EpicliCP-2003 study:: a multicenter epidemiological and clinical study of lung cancer in Spain Sanchez de Cos Escuin, Julio; Miravet Sorribes, Luis; Abal Arca, Jose; Nunez Ares, Ana; Hernandez Hernandez, Jesus; Castanar Jover, Ana M.; Munoz Gutierrez, Francisco Javier; Garcia Arangueena, Luis; Alonso, Miguel Angel; Montero Martinez, M. del Carmen; Allende Gonzalez, Jesus; Sanchez Hernandez, Ignacio 分享 收藏