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

Prediction and prognostic role of left ventricular systolic dysfunction in family screening for dilated cardiomyopathy and non-dilated left ventricular cardiomyopathy

左心室收缩功能障碍在扩张型心肌病和非扩张型左心室心肌病家族筛查中的预测和预后作用

Del Mestre, Eva; Paldino, Alessia; Pio Loco Detto Gava, Carola; Gandin, Ilaria; Gigli, Marta; Stolfo, Davide; Setti, Martina; Severini, Giovanni Maria; Spedicati, Beatrice; Lenarduzzi, Stefania; Girotto, Giorgia; Folgheraiter, Alessandro; Rizzi, Jacopo Giulio; Korcova, Renata; Mestroni, Luisa; Merlo, Marco; Dal Ferro, Matteo; Sinagra, Gianfranco

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays

通过微基因剪接分析揭示剪接变异在遗传性听力障碍中的功能影响

Rosso, Lara Emily; Pianigiani, Giulia; Morgan, Anna; Rubinato, Elisa; Paccagnella, Elisa; Lenarduzzi, Stefania; Wischmeijer, Anita; Spedicati, Beatrice; Girotto, Giorgia

Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication

隐藏在基因组中:首例携带新型PRDM13和CCNC重复序列的意大利北卡罗来纳黄斑营养不良症家族

Spedicati, Beatrice; Pasquetti, Domizia; Santin, Aurora; Zampieri, Stefania; Morgan, Anna; Lenarduzzi, Stefania; Nardone, Giuseppe Giovanni; Paccagnella, Elisa; Cappellani, Stefania; Diplotti, Laura; Pensiero, Stefano; Parentin, Fulvio; Gasparini, Paolo; Battaglia Parodi, Maurizio; Girotto, Giorgia

Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts

正常听力功能遗传学:你听说过吗?一项针对三个意大利人群的全基因组关联研究和全转录组关联研究的综合研究

Santin, Aurora; Pianigiani, Giulia; Gialluisi, Alessandro; Pecori, Alessandro; Spedicati, Beatrice; Costanzo, Simona; Persichillo, Mariarosaria; Bracone, Francesca; Nardone, Giuseppe Giovanni; Tesolin, Paola; Lenarduzzi, Stefania; Morgan, Anna; De Curtis, Amalia; van der Valk, Wouter; Rousset, Francis; Roccio, Marta; Locher, Heiko; Iacoviello, Licia; Concas, Maria Pina; Girotto, Giorgia

Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study

Nexilin (NEXN) 相关性心肌病的遗传和表型特征:一项多中心研究的结果

Perotto, Maria; Paldino, Alessia; Mazzarotto, Francesco; Barbati, Giulia; Stroeks, Sophie L V M; Verdonschot, Job A J; Akhtar, Mohammed; Elliott, Perry; Ochoa, Juan Pablo; Garcia-Pavia, Pablo; de Frutos, Fernando; Sepp, Robert; Hategan, Lidia; Prasad, Sanjay; Yazdani, Momina; Morris-Rosendahl, Deborah; Palinkas, Eszter Dalma; Girolami, Francesca; Olivotto, Iacopo; Parikh, Victoria N; Fatkin, Diane; Lakdawala, Neal; McKenna, William J; Stolfo, Davide; Gigli, Marta; Brun, Francesca; Collesi, Chiara; Giacca, Mauro; Zacchigna, Serena; Severini, Giovanni Maria; Lenarduzzi, Stefania; Spedicati, Beatrice; Santin, Aurora; Girotto, Giorgia; Gasparini, Paolo; Taylor, Matthew R G; Mestroni, Luisa; Merlo, Marco; Sinagra, Gianfranco; Dal Ferro, Matteo

Unveiling the spectrum of sudden cardiac death: a multidisciplinary analysis from the Friuli Venezia Giulia registry

揭示猝死谱系:来自弗留利-威尼斯朱利亚登记处的多学科分析

Radaelli, D; Moreschi, C; Bussani, R; Basciu, M; Di Loreto, C; Concato, M; Addobbati, R; Franzin, M; Cova, M A; Pagnan, L; Girotto, G; Lenarduzzi, S; Spedicati, B; Dal Ferro, M; Sinagra, G; D'Errico, S

Lactobacillus iners dominates the vaginal microbiota of healthy Italian women of reproductive age

惰性乳杆菌是意大利健康育龄女性阴道微生物群的主要菌种。

Vinerbi, E; Chillotti, F; Maschio, A; Lenarduzzi, S; Camarda, S; Crobu, F; Zhernakova, D V; Lo Faro, V; Beltrame Vriz, G; Incollu, S; Spreckels, J; Kuzub, N; Kadric, A; Gacesa, R; Zhernakova, A; De Seta, F; Mazzà, D; Busonero, F; Ferrando, M L; Girotto, G; Sanna, S

The Women4Health cohort: a unique cohort to study women-specific mechanisms of cardio-metabolic regulation

Women4Health队列:一个独特的队列,用于研究女性特有的心血管代谢调节机制

Busonero, Fabio; Lenarduzzi, Stefania; Crobu, Francesca; Gentile, Roberta Marie; Carta, Andrea; Cracco, Francesco; Maschio, Andrea; Camarda, Silvia; Marongiu, Michele; Zanetti, Daniela; Conversano, Claudio; Di Lorenzo, Giovanni; Mazzà, Daniela; De Seta, Francesco; Girotto, Giorgia; Sanna, Serena

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

遗传性听力损失的神秘遗传图谱:意大利人群的多步骤诊断策略

Spedicati, Beatrice; Santin, Aurora; Nardone, Giuseppe Giovanni; Rubinato, Elisa; Lenarduzzi, Stefania; Graziano, Claudio; Garavelli, Livia; Miccoli, Sara; Bigoni, Stefania; Morgan, Anna; Girotto, Giorgia

Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort

揭示子宫内膜异位症的遗传结构:在具有深入临床特征的队列中进行全外显子组测序和新候选基因鉴定

Santin, Aurora; Spedicati, Beatrice; Morgan, Anna; Lenarduzzi, Stefania; Tesolin, Paola; Nardone, Giuseppe Giovanni; Mazzà, Daniela; Di Lorenzo, Giovanni; Romano, Federico; Buonomo, Francesca; Mangogna, Alessandro; Concas, Maria Pina; Zito, Gabriella; Ricci, Giuseppe; Girotto, Giorgia