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

Optimization of long-range PCR protocol to prepare filaggrin exon 3 libraries for PacBio long-read sequencing

优化长距离 PCR 方案以制备用于 PacBio 长读测序的丝聚蛋白外显子 3 文库

Chiara Mareso #, Elena Albion #, William Cozza, Benedetta Tanzi, Stefano Cecchin, Paolo Gisondi, Sandro Michelini, Francesco Bellinato, Serena Michelini, Silvia Michelini, Matteo Bertelli, Giuseppe Marceddu

Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants

面向RPGRORF15基因变异分子诊断的长读长测序方法

Gabriele Bonetti,William Cozza,Andrea Bernini,Jurgen Kaftalli,Chiara Mareso,Francesca Cristofoli,Maria Chiara Medori,Leonardo Colombo,Salvatore Martella,Giovanni Staurenghi,Anna Paola Salvetti,Benedetto Falsini,Giorgio Placidi,Marcella Attanasio,Grazia Pertile,Mario Bengala,Francesca Bosello,Antonio Petracca,Fabiana D'Esposito,Benedetta Toschi,Paolo Lanzetta,Federico Ricci,Francesco Viola,Giuseppe Marceddu,Matteo Bertelli

The transcriptome profile of human trisomy 21 blood cells

人类 21 三体血细胞的转录组图谱

Francesca Antonaros, Rossella Zenatelli, Giulia Guerri, Matteo Bertelli, Chiara Locatelli, Beatrice Vione, Francesca Catapano, Alice Gori, Lorenza Vitale, Maria Chiara Pelleri, Giuseppe Ramacieri, Guido Cocchi, Pierluigi Strippoli, Maria Caracausi, Allison Piovesan

Potential role of microbiome in Chronic Fatigue Syndrome/Myalgic Encephalomyelits (CFS/ME)

微生物群在慢性疲劳综合征/肌痛性脑脊髓炎 (CFS/ME) 中的潜在作用

Giuseppe Francesco Damiano Lupo, Gabriele Rocchetti, Luigi Lucini, Lorenzo Lorusso, Elena Manara, Matteo Bertelli, Edoardo Puglisi, Enrica Capelli

How Is the History of Early Traumatic Exposure Associated With the Psychopathological Outcomes of COVID-19 Related Lockdown and Subsequent Re-opening in People With Eating Disorders?

早期创伤经历与 COVID-19 相关封锁和随后重新开放对饮食障碍患者造成的心理病理后果有何关联?

Cascino, Giammarco; Marciello, Francesca; Abbate-Daga, Giovanni; Balestrieri, Matteo; Bertelli, Sara; Carpiniello, Bernardo; Corrivetti, Giulio; Favaro, Angela; Renna, Caterina; Ricca, Valdo; Salvo, Pierandrea; Segura-Garcia, Cristina; Todisco, Patrizia; Volpe, Umberto; Zeppegno, Patrizia; Monteleone, Palmiero; Monteleone, Alessio Maria

A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase

与视锥细胞营养不良相关的新型 GUCA1A 变体通过与视网膜鸟苷酸环化酶强烈相互作用并过度激活视网膜鸟苷酸环化酶来改变光感受器中的 cGMP 信号传导

Amedeo Biasi, Valerio Marino, Giuditta Dal Cortivo, Paolo Enrico Maltese, Antonio Mattia Modarelli, Matteo Bertelli, Leonardo Colombo, Daniele Dell'Orco

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel

男性不育症诊断:通过在下一代测序定制面板中引入预诊断基因来提高基因分析性能

Vincenza Precone, Rossella Cannarella, Stefano Paolacci, Gian Maria Busetto, Tommaso Beccari, Liborio Stuppia, Gerolamo Tonini, Alessandra Zulian, Giuseppe Marceddu, Aldo E Calogero, Matteo Bertelli

Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations

移码突变导致淋巴水肿-双行睫中FOXC2及其lncRNA表达失衡

Sara Missaglia, Daniela Tavian, Sandro Michelini, Paolo Enrico Maltese, Andrea Bonanomi, Matteo Bertelli

Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema

调查 Milroy 样淋巴水肿患者中发现的 VEGF-C 双等位基因变异的作用

Sylvain Mukenge, Sawan K Jha, Marco Catena, Elena Manara, Veli-Matti Leppänen, Elisa Lenti, Daniela Negrini, Matteo Bertelli, Andrea Brendolan, Michael Jeltsch, Luca Aldrighetti

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation

在淋巴水肿双行睫患者中发现的 FOXC2 疾病突变会损害转录活性和细胞增殖

Daniela Tavian, Sara Missaglia, Sandro Michelini, Paolo Enrico Maltese, Elena Manara, Alvaro Mordente, Matteo Bertelli