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

Genomic identification and complete mitochondrial recovery of a Late Holocene porcupine (Erethizon dorsatum) mummy from Yukon permafrost

对来自育空永久冻土带的晚全新世豪猪(Erethizon dorsatum)木乃伊进行基因组鉴定和完整的线粒体恢复

Selvatici, Sofia; Jin, Chenyu; Zazula, Grant; Hall, Elizabeth; Hewitson, Susan; Moots, Hannah M; Sharif, Bilal; Ersmark, Erik; Parducci, Laura; Dalén, Love; Díez-Del-Molino, David; Oteo-García, Gonzalo

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

利用高保真长读长基因组测序揭示未确诊的罕见病病例

Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Matalonga, Leslie; Laurie, Steven; Brunner, Han G; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E L M; Gilissen, Christian; Hoischen, Alexander

Dietary Strategies to Modulate Gut Microbiota in Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD)

调节代谢功能障碍相关脂肪肝病(MASLD)肠道菌群的饮食策略

Perazza, Federica; Leoni, Laura; Selvatici, Beatrice; Girolami, Francesca; Bonalumi, Alessia; Beretta, Alice; Ferri, Silvia; Petroni, Maria Letizia; Piscaglia, Fabio; Ravaioli, Federico; Sculati, Michele

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

一项针对患有VI型胶原蛋白相关肌病的大型意大利队列的COL6A1、COL6A2和COL6A3致病变异的全国性报告

Fortunato, Fernanda; Fiocco, Laura; Margutti, Alice; Neri, Marcella; D'Amico, Adele; Bertini, Enrico; Ricci, Enzo; Mercuri, Eugenio Maria; Pane, Marika; Massa, Roberto; Greco, Giulia; Berardinelli, Angela Lucia; Cereda, Cristina; Pini, Antonella; Merlini, Luciano; Fusco, Carlo; Rodolico, Carmelo; Messina, Sonia; Fiorillo, Chiara; Bruno, Claudio; Pedemonte, Marina; Traverso, Monica; Moroni, Isabella; Maggi, Lorenzo; Gibertini, Sara; Pegoraro, Elena; Picillo, Esther; Politano, Luisa; Scutifero, Marianna; Vercellino, Fabiana; Massaro, Francesca; Filosto, Massimiliano; Gasparini, Paolo; Ricci, Federica; Mongini, Tiziana Enrica; Selvatici, Rita; Ferlini, Alessandra; Gualandi, Francesca

MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.

Rett 综合征患者和三名人类对照者脑组织中 MECP2 mRNA 的表达谱:突变等位基因优先转录和原位 RNA 定位

Mietto Martina, Montanari Silvia, Falzarano Maria Sofia, Manzati Elisa, Rimessi Paola, Fabris Marina, Selvatici Rita, Gualandi Francesca, Neri Marcella, Fortunato Fernanda, Foti Miryam Rosa Stella, Bigoni Stefania, Gessi Marco, Vacca Marcella, Torelli Silvia, Hayek Joussef, Ferlini Alessandra

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

TREAT:作为Screen4Care项目的一部分,用于新生儿基因组筛查的系统性和包容性基因选择过程。

Saier, Christina; Sansen, Stefaan; Berghout, Joanne; Freyler, Kathrin; Einhorn, Moshe; Einhorn, Yaron; Matalonga, Leslie; Beltran, Sergi; Novelli, Antonio; Selvatici, Rita; Fortunato, Fernanda; Montanari, Silvia; Martinez-Fresno, Maria; Gumus, Gulcin; Agolini, Emanuele; Garnier, Nicolas; Ferlini, Alessandra; Bertini, Enrico; Kirschner, Janbernd

Hypothyroidism impairs the circadian rhythmicity of clock genes and proteins involved in gut nutrient absorption in female mice

甲状腺功能减退会损害雌性小鼠肠道营养吸收相关时钟基因和蛋白质的昼夜节律性。

Secio-Silva, Ayla; Evangelista-Silva, Paulo Henrique; Emrich, Felipe; Selvatici-Tolentino, Letícia; Ferreira, Maíza; Silva, Ana Bárbara de Paula; Gomes, Bruno Henrique; Figueira-Costa, Tatienne Neder; Oliveira, André Gustavo; Peliciari-Garcia, Rodrigo Antonio; Goulart-Silva, Francemilson; Bargi-Souza, Paula

Telemedicine in critical care: collaborative experience in postoperative pediatric cardiac care

远程医疗在重症监护中的应用:术后儿科心脏护理的协作经验

Althabe, María; Bove, Paula Martínez-Da; Arancibia, Celeste; Montonati, Mercedes; Chuchuy, Sandra; Flores, Doris; Maio, Noelia De; Fenoy, Mariana; Rodríguez, Edgardo; Selvatici, Laura

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

下一代测序技术在诊断地中海贫血和血红蛋白病中的应用:意大利四个诊断中心的经验

Selvatici Rita, Guida Valentina, Maffei Massimo, Irrera Milena Agata, Margutti Alice, Bisceglia Paola, Mogni Massimo, Melchionda Erica, Stoico Giuseppina, Grifone Nicoletta, Bocciardo Laura, Salerio Simone, Nagliati Vittoria, Alberico Angela, Tringali Giusy, Melles Cristina, De Luca Alessandro, Ferlini Alessandra, Coviello Domenico, Curcio Cristina

Brugada Syndrome: More than a Monogenic Channelopathy

布鲁加达综合征:不仅仅是一种单基因离子通道病

Liantonio, Antonella; Bertini, Matteo; Mele, Antonietta; Balla, Cristina; Dinoi, Giorgia; Selvatici, Rita; Mele, Marco; De Luca, Annamaria; Gualandi, Francesca; Imbrici, Paola