日期:
2020 年 — 2026 年
2020
2021
2022
2023
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2025
2026
影响因子:

Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.

HIC1 DNA 结合域的种系致病变异与家族性锯齿状息肉综合征有关

Domínguez-Rovira Xavier, Arnau-Collell Coral, Gonfaus-Ortiz Gemma, Llargués-Sistac Gemma, Muñoz Jenifer, Llopis Ainara, Soares de Lima Yasmin, Herrera-Pariente Cristina, Moreira Leticia, Ocaña Teresa, Díaz-Gay Marcos, Cuatrecasas Miriam, Carballal Sabela, López-Novo Anael, Fernàndez Guerau, Castells Antoni, Bujanda Luis, Capellà Gabriel, Cubiella Joaquín, Rodríguez-Alcalde Daniel, Valle Laura, Balaguer Francesc, Ruiz-Ponte Clara, Bonjoch Laia, Castellví-Bel Sergi

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

SpadaHC:一个旨在改进西班牙人群遗传性癌症基因变异分类的数据库

Moreno-Cabrera, José M; Feliubadaló, Lidia; Pineda, Marta; Prada-Dacasa, Patricia; Ramos-Muntada, Mireia; Del Valle, Jesús; Brunet, Joan; Gel, Bernat; Currás-Freixes, María; Calsina, Bruna; Salazar-Hidalgo, Milton E; Rodríguez-Balada, Marta; Roig, Bàrbara; Fernández-Castillejo, Sara; Durán Domínguez, Mercedes; Arranz Ledo, Mónica; Infante Sanz, Mar; Castillejo, Adela; Dámaso, Estela; Soto, José L; de Miguel, Montserrat; Hidalgo Calero, Beatriz; Sánchez-Zapardiel, José M; Ramon Y Cajal, Teresa; Lasa, Adriana; Gisbert-Beamud, Alexandra; López-Novo, Anael; Ruiz-Ponte, Clara; Potrony, Miriam; Álvarez-Mora, María I; Osorio, Ana; Lorda-Sánchez, Isabel; Robledo, Mercedes; Cascón, Alberto; Ruiz, Anna; Spataro, Nino; Hernan, Imma; Borràs, Emma; Moles-Fernández, Alejandro; Earl, Julie; Cadiñanos, Juan; Sánchez-Heras, Ana B; Bigas, Anna; Capellá, Gabriel; Lázaro, Conxi

BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

BMPR2 是遗传性结直肠息肉病的新型易感基因

Laia Bonjoch, Ceres Fernandez-Rozadilla, Miriam Alvarez-Barona, Anael Lopez-Novo, Cristina Herrera-Pariente, Jorge Amigo, Luis Bujanda, David Remedios, Andrés Dacal, Joaquín Cubiella, Francesc Balaguer, Fernando Fernández-Bañares, Angel Carracedo, Rodrigo Jover, Sergi Castellvi-Bel, Clara Ruiz-Ponte

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

WNK2基因的种系突变可能与锯齿状息肉综合征相关。

Soares de Lima, Yasmin; Arnau-Collell, Coral; Muñoz, Jenifer; Herrera-Pariente, Cristina; Moreira, Leticia; Ocaña, Teresa; Díaz-Gay, Marcos; Franch-Expósito, Sebastià; Cuatrecasas, Miriam; Carballal, Sabela; Lopez-Novo, Anael; Moreno, Lorena; Fernàndez, Guerau; Díaz de Bustamante, Aranzazu; Peters, Sophia; Sommer, Anna K; Spier, Isabel; Te Paske, Iris B A W; van Herwaarden, Yasmijn J; Castells, Antoni; Bujanda, Luis; Capellà, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A; Winship, Ingrid M; Rosty, Christophe; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Holinski-Feder, Elke; de Voer, Richarda; Buchanan, Daniel D; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia; Castellvi-Bel, Sergi

Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

早发患者的外显子组测序支持结直肠癌的遗传异质性

C Fernández-Rozadilla #, M Álvarez-Barona #, I Quintana, A López-Novo, J Amigo, J M Cameselle-Teijeiro, E Roman, D Gonzalez, X Llor, L Bujanda, X Bessa, R Jover, F Balaguer, A Castells, S Castellví-Bel, G Capellá, A Carracedo, L Valle, Clara Ruiz-Ponte

Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

欧洲“关爱慢性骨髓炎和多发性骨髓瘤病”(C4CMMRD)联盟第五次会议报告,荷兰莱顿,2019年7月6日

Suerink, M; Wimmer, K; Brugieres, L; Colas, C; Gallon, R; Ripperger, T; Benusiglio, P R; Bleiker, E M A; Ghorbanoghli, Z; Goldberg, Y; Hardwick, J C H; Kloor, M; le Mentec, M; Muleris, M; Pineda, M; Ruiz-Ponte, C; Vasen, H F A

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

早期结直肠癌为林奇综合征到CMMRD表型连续谱提供了新的证据

Fernandez-Rozadilla, Ceres; Alvarez-Barona, Miriam; Schamschula, Esther; Bodo, Sahra; Lopez-Novo, Anael; Dacal, Andres; Calviño-Costas, Consuelo; Lancho, Angel; Amigo, Jorge; Bello, Xabier; Cameselle-Teijeiro, Jose Manuel; Carracedo, Angel; Colas, Chrystelle; Muleris, Martine; Wimmer, Katharina; Ruiz-Ponte, Clara

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

染色体 1q 位点与结直肠肿瘤易感性之间存在遗传关联的证据

Schubert, Stephanie A; Ruano, Dina; Elsayed, Fadwa A; Boot, Arnoud; Crobach, Stijn; Sarasqueta, Arantza Farina; Wolffenbuttel, Bruce; van der Klauw, Melanie M; Oosting, Jan; Tops, Carli M; van Eijk, Ronald; Vasen, Hans Fa; Vossen, Rolf Ham; Nielsen, Maartje; Castellví-Bel, Sergi; Ruiz-Ponte, Clara; Tomlinson, Ian; Dunlop, Malcolm G; Vodicka, Pavel; Wijnen, Juul T; Hes, Frederik J; Morreau, Hans; de Miranda, Noel Fcc; Sijmons, Rolf H; van Wezel, Tom

Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer

胃癌患者中PALB2、BRCA1和RAD51C基因的种系突变,这些基因调控DNA重组修复

Sahasrabudhe, Ruta; Lott, Paul; Bohorquez, Mabel; Toal, Ted; Estrada, Ana P; Suarez, John J; Brea-Fernández, Alejandro; Cameselle-Teijeiro, José; Pinto, Carla; Ramos, Irma; Mantilla, Alejandra; Prieto, Rodrigo; Corvalan, Alejandro; Norero, Enrique; Alvarez, Carolina; Tapia, Teresa; Carvallo, Pilar; Gonzalez, Luz M; Cock-Rada, Alicia; Solano, Angela; Neffa, Florencia; Della Valle, Adriana; Yau, Chris; Soares, Gabriela; Borowsky, Alexander; Hu, Nan; He, Li-Ji; Han, Xiao-You; Taylor, Philip R; Goldstein, Alisa M; Torres, Javier; Echeverry, Magdalena; Ruiz-Ponte, Clara; Teixeira, Manuel R; Carvajal-Carmona, Luis G

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome

GALNT12 在衰减型腺瘤性息肉病综合征的遗传易感性中的作用

Lorca, Víctor; Rueda, Daniel; Martín-Morales, Lorena; Poves, Carmen; Fernández-Aceñero, María Jesús; Ruiz-Ponte, Clara; Llovet, Patricia; Marrupe, David; García-Barberán, Vanesa; García-Paredes, Beatriz; Pérez-Segura, Pedro; de la Hoya, Miguel; Díaz-Rubio, Eduardo; Caldés, Trinidad; Garre, Pilar