未登录 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
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population Moreno-Cabrera, Jose M.; Feliubadalo, Lidia; Pineda, Marta; Prada-Dacasa, Patricia; Ramos-Muntada, Mireia; Del Valle, Jesus; Brunet, Joan; Gel, Bernat; Curras-Freixes, Maria; Calsina, Bruna; Salazar-Hidalgo, Milton E.; Rodriguez-Balada, Marta; Roig, Barbara; Fernandez-Castillejo, Sara; Duran Dominguez, Mercedes; Arranz Ledo, Monica; Infante Sanz, Mar; Castillejo, Adela; Damaso, Estela; Soto, Jose L.; de Miguel, Montserrat; Hidalgo Calero, Beatriz; Sanchez-Zapardiel, Jose M.; Ramon Y Ramon, Teresa; Lasa, Adriana; Gisbert-Beamud, Alexandra; Lopez-Novo, Anael; Ruiz-Ponte, Clara; Potrony, Miriam; Alvarez-Mora, Maria, I; Osorio, Ana; Lorda-Sanchez, Isabel; Robledo, Mercedes; Cascon, Alberto; Ruiz, Anna; Spataro, Nino; Hernan, Imma; Borras, Emma; Moles-Fernandez, Alejandro; Earl, Julie; Cadinanos, Juan; Sanchez-Heras, Ana B.; Bigas, Anna; Capella, Gabriel; Lazaro, Conxi 分享 收藏
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; Sanchez-Heras, Ana Beatriz; Mur, Pilar; Soto, Jose Luis; Aiza, Gemma; Borras, Emma; Kondrashov, Fyodor A.; Kondrashov, Alexey S.; Bazykin, Georgii A.; Valle, Laura 分享 收藏
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome 遗传性平滑肌瘤病和肾细胞癌综合征家族中新型FH创始人突变的遗传和临床特征 Sanchez-Heras, Ana Beatriz; Damaso, Estela; Castillejo, Adela; Robledo, Mercedes; Teule, Alexandre; Lazaro, Conxi; Sanchez-Martinez, Rosario; Zuniga, Angel; Lopez-Fernandez, Adria; Balmana, Judith; Robles, Luis; Ramon y Cajal, Teresa; Castillejo, M. Isabel; Ibanez, Raquel Perea; Sevila, Carmen Martinez; Sanchez-Mira, Andrea; Escandell, Ines; Gomez, Luis; Berbel, Pere; Soto, Jose Luis 分享 收藏
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome Ferrer-Avargues, Rosario; Castillejo, Maria Isabel; Damaso, Estela; Diez-Obrero, Virginia; Garrigos, Noemi; Molina, Tatiana; Codoner-Alejos, Alan; Segura, Angel; Sanchez-Heras, Ana Beatriz; Castillejo, Adela; Soto, Jose Luis 分享 收藏
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Kidney manifestations in patients with hereditary leiomyomatosis and renal cell cancer syndrome (LHRCC) in Spain Sanchez, A. B.; Teule, A.; Lastra, E.; Balmana, J.; Robles, L.; Garcia, J. D. D.; Ramon y Cajal, T.; Llort, G.; Fonfria, M.; Robledo, M.; Castillejo, A.; Duran, M.; Zuniga, A.; Gomez, L.; Grau Garces, E.; Lopez, A.; Bosquet-Sanz, M.; Barbera, V.; Soto, J. L. 分享 收藏
Clinical and Pathological Characterization of Lynch-Like Syndrome Dolores Pico, Maria; Castillejo, Adela; Murcia, Oscar; Giner-Calabuig, Mar; Alustiza, Miren; Sanchez, Ariadna; Moreira, Leticia; Pellise, Maria; Castells, Antoni; Carrillo-Palau, Marta; Ramon y Cajal, Teresa; Gisbert-Beamud, Alexandra; Llort, Gemma; Yague, Carmen; Lopez-Fernandez, Adria; Alvarez-Urturi, Cristina; Cubiella, Joaquin; Rivas, Laura; Rodriguez-Alcalde, Daniel; Herraiz, Maite; Garau, Catalina; Dolz, Carlos; Bujanda, Luis; Cid, Lucia; Poves, Carmen; Garzon, Marta; Salces, Inmaculada; Ponce, Marta; Hernandez-Villalba, Luis; Alenda, Cristina; Balaguer, Francesc; Soto, Jose-Luis; Jover, Rodrigo 分享 收藏
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation 血液中高度敏感的MLH1甲基化分析确定了具有低水平镶嵌MLH1表观突变的癌症患者 Damaso, Estela; Canet-Hermida, Julia; Vargas-Parra, Gardenia; Velasco, Angela; Marin, Fatima; Darder, Esther; del Valle, Jesus; Fernandez, Anna; Izquierdo, Angel; Mateu, Gemma; Oliveras, Gloria; Escribano, Carmen; Pinol, Virginia; Uchima, Hugo-Ikuo; Soto, Jose Luis; Hitchins, Megan; Farres, Ramon; Lazaro, Conxi; Queralt, Bernat; Brunet, Joan; Capella, Gabriel; Pineda, Marta 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
A Label Free Disposable Device for Rapid Isolation of Rare Tumor Cells from Blood by Ultrasounds Gonzalez, Itziar; Earl, Julie; Fernandez, Luis J.; Sainz, Bruno, Jr.; Pinto, Alberto; Monge, Rosa; Alcala, Sonia; Castillejo, Adela; Soto, Jose L.; Carrato, Alfredo 分享 收藏
Association Between Germline Mutations in &ITBRF1&IT, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer Bellido, Fernando; Sowada, Nadine; Mur, Pilar; Lazaro, Conxi; Pons, Tirso; Valdes-Mas, Rafael; Pineda, Marta; Aiza, Gemma; Iglesias, Silvia; Soto, Jose Luis; Urioste, Miguel; Caldes, Trinidad; Balbin, Milagros; Blay, Pilar; Rueda, Daniel; Duran, Mercedes; Valencia, Alfonso; Moreno, Victor; Brunet, Joan; Blanco, Ignacio; Navarro, Matilde; Calin, George A.; Borck, Guntram; Puente, Xose S.; Capella, Gabriel; Valle, Laura 分享 收藏
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Increased Risk of Colorectal Cancer in Patients With Multiple Serrated Polyps and Their First-Degree Relatives 多发性锯齿状息肉患者及其一级亲属患结直肠癌的风险增加 Egoavil, Cecilia; Juarez, Miriam; Guarinos, Carla; Rodriguez-Soler, Maria; Hernandez-Illan, Eva; Alenda, Cristina; Paya, Artemio; Castillejo, Adela; Serradesanferm, Anna; Bujanda, Luis; Fernandez-Banares, Fernando; Cubiella, Joaquin; De-Castro, Luisa; Guerra, Ana; Aguirre, Elena; Herreros-de-Tejada, Alberto; Bessa, Xavier; Herraiz, Maite; Marin-Gabriel, Jose-Carlos; Balmana, Judith; Pinol, Virginia; Rodriguez Moranta, Francisco; Nicolas-Perez, David; Cuatrecasas, Miriam; Balaguer, Francesc; Castells, Antoni; Soto, Jose-Luis; Zapater, Pedro; Jover, Rodrigo 分享 收藏
Characterization of a novel POLD1 missense founder mutation in a Spanish population Ferrer-Avargues, Rosario; Diez-Obrero, Virginia; Martin-Tomas, Ester; Hernandez-Illan, Eva; Castillejo, Maria-Isabel; Codoner-Alejos, Alan; Barbera, Victor-Manuel; Sanchez-Heras, Ana-Beatriz; Segura, Angel; Juan, Maria-Jose; Tena, Isabel; Castillejo, Adela; Soto, Jose-Luis 分享 收藏
GENETIC PROFILE OF POLYPS AND RISK OF ADVANCED METACHRONOUS LESIONS Murcia, Oscar; Juarez, Mriam; Egoavil, Cecilia M.; Rodriguez-Soler, Maria; Guarinos, Carla; Alenda, Cristina; Garcia-Martinez, Araceli; Giner-Calabuig, Mar; Mangas, Carolina; Aparicio, Jose Ramon; Ruiz-Gomez, Francisco Antonio; Martinez, Juan; Casellas, Juan Antonio; Soto, Jose Luis; Zapater, Pedro; Jover, Rodrigo 分享 收藏
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 家族性结直肠癌和/或息肉病的529个家族中的POLE和POLD1突变: 报告病例的回顾以及基因检测和监测的建议 Bellido, Fernando; Pineda, Marta; Aiza, Gemma; Valdes-Mas, Rafael; Navarro, Matilde; Puente, Diana A.; Pons, Tirso; Gonzalez, Sara; Iglesias, Silvia; Darder, Esther; Pinol, Virginia; Luis Soto, Jose; Valencia, Alfonso; Blanco, Ignacio; Urioste, Miguel; Brunet, Joan; Lazaro, Conxi; Capella, Gabriel; Puente, Xose S.; Valle, Laura 分享 收藏
BRAF and KRAS Mutations in Colonic Polyps As Molecular Marker of Risk of Metachronous Advanced Neoplasia Juarez, Miriam; Egoavil, Cecilia M.; Hernandez-Illan, Eva; Rodriguez-Soler, Maria; Garcia-Martinez, Araceli; Zapater, Pedro; Guarinos, Carla; Alenda, Cristina; Castano-Soler, Lucia; Martinez, Juan; Ruiz, Francisco; Company, Luis; Aparicio, Jose Ramon; Casellas, Juan Antonio; Murcia, Oscar; Calabuig, Mar. G.; Castillejo, Adela; Barbera, Victor; Soto, Jose Luis; Jover, Rodrigo 分享 收藏
The heritability and patterns of DNA methylation in normal human colorectum Rowlatt, Amy; Hernandez-Suarez, Gustavo; Carolina Sanabria-Salas, Maria; Serrano-Lopez, Martha; Rawlik, Konrad; Hernandez-Illan, Eva; Alenda, Cristina; Castillejo, Adela; Luis Soto, Jose; Haley, Chris S.; Tenesa, Albert 分享 收藏
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair Segui, Nuria; Mina, Leonardo B.; Lazaro, Conxi; Sanz-Pamplona, Rebeca; Pons, Tirso; Navarro, Matilde; Bellido, Fernando; Lopez-Doriga, Adriana; Valdes-Mas, Rafael; Pineda, Marta; Guino, Elisabet; Vidal, August; Luis Soto, Jose; Caldes, Trinidad; Duran, Mercedes; Urioste, Miguel; Rueda, Daniel; Brunet, Joan; Balbin, Milagros; Blay, Pilar; Iglesias, Silvia; Garre, Pilar; Lastra, Enrique; Beatriz Sanchez-Heras, Ana; Valencia, Alfonso; Moreno, Victor; Angel Pujana, Miguel; Villanueva, Alberto; Blanco, Ignacio; Capella, Gabriel; Surralles, Jordi; Puente, Xose S.; Valle, Laura 分享 收藏
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