日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Prevalence and clinical impact of germline pathogenic variants in breast cancer: a descriptive large single-center study

乳腺癌中种系致病变异的患病率和临床影响:一项描述性大型单中心研究

Rodriguez-Hernandez, A; Martínez-Sáez, O; Brasó-Maristany, F; Conte, B; Gómez, R; García-Fructuoso, I; Fratini, B; Segui, E; Potrony, M; Sanfeliu, E; Cobo, S; Galvan, P; Moreno, L; Grau, E; Aceituno, M R; Puig-Butille, J A; Oriola, J; Goberna, G; Blasco, P; Castillo, O; Sirenko, V; Aguirre, A; Vidal, M; Muñoz, M; Ramon Y Cajal, T; Balaguer, F; Prat, A; Adamo, B

Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma

通过外显子组测序分析西班牙原发性先天性青光眼和青少年开角型青光眼患者的遗传变异

Laguna, Javier; Labay-Tejado, Sara; Potrony, Míriam; Pinyol, Laura; Vendrell, Cristina; Sánchez, Aurora; Badenas, Celia; Opazo-Toro, Valeria; Jodar, Meritxell; Milla, Elena

Potential vectors associated to Oropouche virus transmission in Cuba, 2024

2024年古巴奥罗普切病毒传播的潜在媒介

Sánchez González, Mónica; Companioni, Ariamys; Camacho, Eric; Serrano, Silvia; Álvarez, Mayling; Rodriguez-Potrony, Henry; Alfonso, Yuneisy; Liberty, Barbara; Varens, Javier; Martínez, Yanet; Menendez, Zulema; Rodríguez Velázquez, Dayana; Rivera, Madelaine; Lugo, Daymi; Kouri, Vivian; Guzman, Maria G; Gutiérrez-Bugallo, Gladys

Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications

实体瘤患者液体活检中偶然发现的致病性种系突变:患病率、临床应用及意义

Laguna, Juan Carlos; Pastor, Belén; Nalda, Irene; Hijazo-Pechero, Sara; Teixido, Cristina; Potrony, Miriam; Puig-Butillé, Joan Antón; Mezquita, Laura

Evaluation of the Biological Effect of a Nicotinamide-Containing Broad-Spectrum Sunscreen on Photodamaged Skin

评估含烟酰胺广谱防晒霜对光损伤皮肤的生物学效应

Torres-Moral, Teresa; Tell-Martí, Gemma; Bague, Jaume; Rosés-Gibert, Pau; Calbet-Llopart, Neus; Mateu, Judit; Pérez-Anker, Javiera; Potrony, Míriam; Alejo, Beatriz; Iglesias, Pablo; Espinosa, Natalia; Orte Cano, Carmen; Cinotti, Elisa; Del Marmol, Véronique; Fontaine, Margot; Miyamoto, Makiko; Monnier, Jilliana; Perrot, Jean Luc; Rubegni, Pietro; Tognetti, Linda; Suppa, Mariano; Demessant-Flavigny, Anne Laure; Le Floc'h, Caroline; Prieto, Leonor; Malvehy, Josep; Puig, Susana

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

The MC1R r allele does not increase melanoma risk in MITF E318K carriers

MC1R r等位基因不会增加MITF E318K携带者的黑色素瘤风险。

Wallingford, Courtney K; Demeshko, Anastassia; Krishnakripa, Asha Krishnankutty; Smit, Darren J; Duffy, David L; Betz-Stablein, Brigid; Pflugfelder, Annette; Jagirdar, Kasturee; Holland, Elizabeth; Mann, Graham J; Primiero, Clare A; Yanes, Tatiane; Malvehy, Josep; Badenas, Cèlia; Carrera, Cristina; Aguilera, Paula; Olsen, Catherine M; Ward, Sarah V; Haass, Nikolas K; Sturm, Richard A; Puig, Susana; Whiteman, David C; Law, Matthew H; Cust, Anne E; Potrony, Miriam; Soyer, H Peter; McInerney-Leo, Aideen M

High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium

来自地中海地区黑色素瘤家族的高危和中危易感变异:来自 MelaNostrum 联盟的多中心队列研究

Pellegrini, C; Cardelli, L; Ghiorzo, P; Pastorino, L; Potrony, M; García-Casado, Z; Elefanti, L; Stefanaki, I; Mastrangelo, M; Necozione, S; Aguilera, P; Rodríguez-Hernández, A; Di Nardo, L; Rocco, T; Del Regno, L; Badenas, C; Carrera, C; Malvehy, J; Requena, C; Bañuls, J; Stratigos, A J; Peris, K; Menin, C; Calista, D; Nagore, E; Puig, S; Landi, M T; Fargnoli, M C

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders

外显子组测序在神经系统疾病临床实践中的应用

Alvarez-Mora, María Isabel; Rodríguez-Revenga, Laia; Jodar, Meritxell; Potrony, Miriam; Sanchez, Aurora; Badenas, Celia; Oriola, Josep; Villanueva-Cañas, José Luis; Muñoz, Esteban; Valldeoriola, Francesc; Cámara, Ana; Compta, Yaroslau; Carreño, Mar; Martí, María Jose; Sánchez-Valle, Raquel; Madrigal, Irene

Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series

端粒维持基因(POT1、TERF2IP、ACD 和 TERT)种系变异与家族性黑色素瘤中尖形细胞形态的相关性:一项多中心病例系列研究

Goldstein, Alisa M; Qin, Richard; Chu, Emily Y; Elder, David E; Massi, Daniela; Adams, David J; Harms, Paul W; Robles-Espinoza, Carla Daniela; Newton-Bishop, Julia A; Bishop, D Timothy; Harland, Mark; Holland, Elizabeth A; Cust, Anne E; Schmid, Helen; Mann, Graham J; Puig, Susana; Potrony, Miriam; Alos, Llucia; Nagore, Eduardo; Millán-Esteban, David; Hayward, Nicholas K; Broit, Natasa; Palmer, Jane M; Nathan, Vaishnavi; Berry, Elizabeth G; Astiazaran-Symonds, Esteban; Yang, Xiaohong R; Tucker, Margaret A; Landi, Maria Teresa; Pfeiffer, Ruth M; Sargen, Michael R