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

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

痉挛性截瘫分子诊断中意想不到的复杂性 11

Mademont-Soler, Irene; Esteba-Castillo, Susanna; Jiménez-Xifra, Aida; Alemany, Berta; Ribas-Vidal, Núria; Cutillas, Maria; Coll, Mònica; Pinsach, Mel Lina; Pagans, Sara; Alcalde, Mireia; Viñas-Jornet, Marina; Montero-Vale, Mercedes; de Castro-Miró, Marta; Rodríguez, Jairo; Armengol, Lluís; Queralt, Xavier; Obón, María

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

在一名反复感染的儿科患者中检测到巨大的细胞质内含物:病例报告

Saiz-Sierra, Leire; Marull Arnall, Anna; Nieto-Moragas, Javier; Deulofeu, Meritxell; Jiménez Romero, Orlando; Mademont, Irene; Obón Ferrer, María; Serrando Querol, María Teresa

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies

心肌病相关基因变异的个性化解读和临床转化

Campuzano, Oscar; Fernandez-Falgueras, Anna; Sarquella-Brugada, Georgia; Cesar, Sergi; Arbelo, Elena; García-Álvarez, Ana; Jordà, Paloma; Coll, Monica; Fiol, Victoria; Iglesias, Anna; Perez-Serra, Alexandra; Mates, Jesus; Del Olmo, Bernat; Ferrer, Carles; Alcalde, Mireia; Puigmulé, Marta; Mademont-Soler, Irene; Pico, Ferran; Lopez, Laura; Tiron, Coloma; Brugada, Josep; Brugada, Ramon

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

拷贝数变异在心源性猝死及相关疾病中的作用:基因分析及临床实践

Jesus Mates, Irene Mademont-Soler, Bernat Del Olmo, Carles Ferrer-Costa, Monica Coll, Alexandra Pérez-Serra, Ferran Picó, Catarina Allegue, Anna Fernandez-Falgueras, Patricia Álvarez, Raquel Yotti, Maria Angeles Espinosa, Georgia Sarquella-Brugada, Sergi Cesar, Ester Carro, Josep Brugada, Elena Arbe

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP

靶向二代测序为癫痫和心脏传导障碍/SUDEP相关疾病提供了新的线索。

Coll, Monica; Striano, Pasquale; Ferrer-Costa, Carles; Campuzano, Oscar; Matés, Jesús; Del Olmo, Bernat; Iglesias, Anna; Pérez-Serra, Alexandra; Mademont, Irene; Picó, Ferran; Oliva, Antonio; Brugada, Ramon

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

肥厚型心肌病中微量基因和拷贝数变异筛查的额外价值

Mademont-Soler, Irene; Mates, Jesus; Yotti, Raquel; Espinosa, Maria Angeles; Pérez-Serra, Alexandra; Fernandez-Avila, Ana Isabel; Coll, Monica; Méndez, Irene; Iglesias, Anna; Del Olmo, Bernat; Riuró, Helena; Cuenca, Sofía; Allegue, Catarina; Campuzano, Oscar; Picó, Ferran; Ferrer-Costa, Carles; Álvarez, Patricia; Castillo, Sergio; Garcia-Pavia, Pablo; Gonzalez-Lopez, Esther; Padron-Barthe, Laura; Díaz de Bustamante, Aranzazu; Darnaude, María Teresa; González-Hevia, José Ignacio; Brugada, Josep; Fernandez-Aviles, Francisco; Brugada, Ramon

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

自然死亡和死因不明的猝死:尸检基因检测的价值

Sanchez, Olallo; Campuzano, Oscar; Fernández-Falgueras, Anna; Sarquella-Brugada, Georgia; Cesar, Sergi; Mademont, Irene; Mates, Jesus; Pérez-Serra, Alexandra; Coll, Monica; Pico, Ferran; Iglesias, Anna; Tirón, Coloma; Allegue, Catarina; Carro, Esther; Gallego, María Ángeles; Ferrer-Costa, Carles; Hospital, Anna; Bardalet, Narcís; Borondo, Juan Carlos; Vingut, Albert; Arbelo, Elena; Brugada, Josep; Castellà, Josep; Medallo, Jordi; Brugada, Ramon

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.

与猝死相关的疾病中罕见的肌联蛋白(TTN)变异体

Campuzano Oscar, Sanchez-Molero Olallo, Mademont-Soler Irene, Riuró Helena, Allegue Catarina, Coll Monica, Pérez-Serra Alexandra, Mates Jesus, Picó Ferran, Iglesias Anna, Brugada Ramon

Genetic analysis, in silico prediction, and family segregation in long QT syndrome

长QT综合征的遗传分析、计算机预测和家族分离

Riuró, Helena; Campuzano, Oscar; Berne, Paola; Arbelo, Elena; Iglesias, Anna; Pérez-Serra, Alexandra; Coll-Vidal, Mònica; Partemi, Sara; Mademont-Soler, Irene; Picó, Ferran; Allegue, Catarina; Oliva, Antonio; Gerstenfeld, Edward; Sarquella-Brugada, Georgia; Castro-Urda, Víctor; Fernández-Lozano, Ignacio; Mont, Lluís; Brugada, Josep; Scornik, Fabiana S; Brugada, Ramon

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology

利用新一代测序技术鉴定长QT综合征的致病基因缺陷及相关基因改变

Campuzano, Oscar; Sarquella-Brugada, Georgia; Mademont-Soler, Irene; Allegue, Catarina; Cesar, Sergi; Ferrer-Costa, Carles; Coll, Monica; Mates, Jesus; Iglesias, Anna; Brugada, Josep; Brugada, Ramon