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

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients

MYBPC3 c.2309-2A>G:探索意大利肥厚型心肌病患者的创始变异

Fabiani, Marco; Micolonghi, Caterina; Caroselli, Silvia; Savio, Camilla; Petrucci, Simona; Tini, Giacomo; Musumeci, Beatrice; Pagannone, Erika; De Fazio, Ludovica; Germani, Aldo; Visco, Vincenzo; Pizzuti, Antonio; Veneziano, Liana; Marchionni, Enrica; Mango, Ruggiero; Pezzoli, Laura; Bottillo, Irene; Lucca, Camilla; Scatigno, Agnese; Goisis, Lucrezia; Cappuccini, Francesca; Ciccone, Maria Pia; Ballerini, Adelaide; Gozzini, Alessia; Onofri, Valerio; Cristalli, Carlotta Pia; Latini, Andrea; D'Angelantonio, Daniela; Gualandi, Francesca; Tortora, Giada; Magliozzi, Monia; Novelli, Antonio; Rossi, Cesare; Grammatico, Paola; Sangiuolo, Federica; Girolami, Francesca; Iascone, Maria; Olivotto, Iacopo; Autore, Camillo; Rubattu, Speranza; Piane, Maria

Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort

对肥厚型心肌病患者下一代测序数据的重新分析:剪接型MYBPC3变异体在意大利队列中的作用

Caroselli, Silvia; Fabiani, Marco; Micolonghi, Caterina; Savio, Camilla; Tini, Giacomo; Musumeci, Beatrice; Pagannone, Erika; Germani, Aldo; Libi, Fabio; Visco, Vincenzo; Pizzuti, Antonio; Autore, Camillo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria

Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations

使用适用于肥厚型心肌病相关肌节基因的ACMG/AMP标准对VUS进行重新分类:解决率和注意事项

Caroselli, Silvia; Corona, Giulia; Fabiani, Marco; Manzoni, Martina; Micolonghi, Caterina; Savio, Camilla; Germani, Aldo; Bragliola, Stefania; Maselli, Valeria; Rubattu, Speranza; Musumeci, Beatrice; Tini, Giacomo; Visco, Vincenzo; Petrucci, Simona; Novelli, Valeria; Piane, Maria

The Italian public health response during the pandemic emergency: from qualitative data to the "performance index" of care provided by Spoleto Hospital

意大利在疫情紧急情况下的公共卫生应对措施:从定性数据到斯波莱托医院提供的护理“绩效指数”

Caroselli, Silvia; Roselli, Martina; Germani, Aldo; Fabiani, Marco; Micolonghi, Caterina; Visco, Vincenzo; Raffa, Salvatore; Mancini, Rita; Petrucci, Simona; Cardone, Alexander; Rossi, Orietta; Banchieri, Giorgio; Napoli, Christian; Piane, Maria

Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.

除了 BRCA1/2 基因之外,卵巢癌还涉及 ATM 基因中的种系致病变异

Guadagnolo Daniele, Minucci Angelo, Chiavassa Antonella, Gentile Gabriella, Salvatori Francesca, Khaleghi Hashemian Nader, Maneri Giulia, Piane Maria, Grotta Simona, Grammatico Paola, Pizzuti Antonio, Santini Daniele, De Marchis Laura

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review

揭示心肌病中微效基因的谱系:一篇叙述性综述

Micolonghi, Caterina; Perrone, Federica; Fabiani, Marco; Caroselli, Silvia; Savio, Camilla; Pizzuti, Antonio; Germani, Aldo; Visco, Vincenzo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay

利用正在开发的用于商业化下一代测序同源重组缺陷检测的拷贝数变异算法,识别BRCA1中多重连接依赖性探针扩增的假阳性结果

Concolino, Paola; De Paolis, Elisa; Rinelli, Martina; Maneri, Giulia; Brisighelli, Francesca; Trozzi, Rita; Duranti, Simona; Giacò, Luciano; Piane, Maria; Preziosi, Alessia; Panfili, Arianna; Scambia, Giovanni; Nero, Camilla; De Bonis, Maria; Minucci, Angelo

Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study

男性遗传性不育症的精液学、激素和超声特征:一项大型单中心回顾性研究的结果

Mazzilli, Rossella; Petrucci, Simona; Zamponi, Virginia; Golisano, Bianca; Pecora, Giulia; Mancini, Camilla; Salerno, Gerardo; Alesi, Laura; De Santis, Ilaria; Libi, Fabio; Rossi, Carla; Borro, Marina; Raffa, Salvatore; Visco, Vincenzo; Defeudis, Giuseppe; Piane, Maria; Faggiano, Antongiulio

Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease

病例报告:一种新的胶质纤维酸性蛋白基因突变导致青少年发病型亚历山大病

Romano, Carmela; Morena, Emanuele; Petrucci, Simona; Diamant, Selene; Marconi, Martina; Travaglini, Lorena; Zanni, Ginevra; Piane, Maria; Salvetti, Marco; Romano, Silvia; Ristori, Giovanni

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II

病例报告:一种与小头畸形骨发育不良原始侏儒症 II 型相关的 PCNT 基因纯合突变导致的身材矮小、肾脏畸形和脑动脉瘤

Petraroli, Maddalena; Percesepe, Antonio; Piane, Maria; Ormitti, Francesca; Castellone, Eleonora; Gnocchi, Margherita; Messina, Giulia; Bernardi, Luca; Patianna, Viviana Dora; Esposito, Susanna Maria Roberta; Street, Maria Elisabeth