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

Diagnosis of Familial Hypercholesterolemia in Children: From Clinical Features Through Gene Variants to Polygenic Score

儿童家族性高胆固醇血症的诊断:从临床特征到基因变异再到多基因评分

Buganza, Raffaele; Nobili, Cecilia; Massini, Giulia; Cardiero, Giovanna; Di Taranto, Maria Donata; de Sanctis, Luisa; Guardamagna, Ornella

Lipidomic Signature of Patients with Familial Hypercholesterolemia Carrying Pathogenic Variants Unveils a Cue of Increased Cardiovascular Risk

携带致病变异的家族性高胆固醇血症患者的脂质组学特征揭示了心血管风险增加的线索。

De Simone, Giulia; Di Taranto, Maria Donata; Paris, Debora; Ferrandino, Martina; Andolfi, Marco; Iodice, Annalaura; Cardiero, Giovanna; De Luca, Carmine; Valletta, Luigi Junior; Calcaterra, Ilenia Lorenza; Iannuzzo, Gabriella; Di Minno, Matteo Nicola Dario; Fortunato, Giuliana; Cutignano, Adele

New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience

洛米他派治疗纯合子家族性高胆固醇血症患者的新见解:单中心经验

Iannuzzo, Gabriella; Calcaterra, Ilenia Lorenza; Gentile, Marco; Stanzione, Claudia; de Ruberto, Francesca; di Taranto, Maria Donata; Cardiero, Giovanna; Fortunato, Giuliana; Minno, Matteo Di

Assessment of Platelet Aggregation and Thrombin Generation in Patients with Familial Chylomicronemia Syndrome Treated with Volanesorsen: A Cross-Sectional Study

对接受沃拉尼索森治疗的家族性乳糜微粒血症患者的血小板聚集和凝血酶生成进行评估:一项横断面研究

Calcaterra, Ilenia Lorenza; Santoro, Renata; Vitelli, Nicoletta; Cirillo, Ferdinando; D'Errico, Guido; Guerrino, Cornelia; Cardiero, Giovanna; Di Taranto, Maria Donata; Fortunato, Giuliana; Iannuzzo, Gabriella; Di Minno, Matteo Nicola Dario

Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia

12-SNP 和 6-SNP 多基因评分对家族性高胆固醇血症患者高 LDL 胆固醇水平易感性的影响

Cardiero, Giovanna; Ferrandino, Martina; Calcaterra, Ilenia Lorenza; Iannuzzo, Gabriella; Di Minno, Matteo Nicola Dario; Buganza, Raffaele; Guardamagna, Ornella; Auricchio, Renata; Di Taranto, Maria Donata; Fortunato, Giuliana

Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome

罕见的NOTCH2变异与阿拉吉尔综合征临床特征的关联

Ferrandino, Martina; Cardiero, Giovanna; Di Dato, Fabiola; Cerrato, Ylenia; Vitagliano, Luigi; Mandato, Claudia; Morisco, Filomena; Spagnuolo, Maria Immacolata; Iorio, Raffaele; Di Taranto, Maria Donata; Fortunato, Giuliana

Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life

儿童家族性高胆固醇血症的简化诊断标准:在现实生活中的应用

Buganza, Raffaele; Massini, Giulia; Di Taranto, Maria Donata; Cardiero, Giovanna; de Sanctis, Luisa; Guardamagna, Ornella

Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster

意大利南部α地中海贫血:五个新发现的缺失病例的特征分析,这些缺失病例均导致α珠蛋白基因簇的缺失。

Cardiero, Giovanna; Musollino, Gennaro; Prezioso, Romeo; Nigro, Vincenzo; Lacerra, Giuseppina

Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region

对三个涉及MCS-R2的新型α-地中海贫血缺失进行功能分析,揭示了5'边界区存在一个额外的增强子元件。

Capasso, Serena; Cardiero, Giovanna; Musollino, Gennaro; Prezioso, Romeo; Testa, Rosario; Dembech, Sabrina; Piluso, Giulio; Nigro, Vincenzo; Digilio, F Anna; Lacerra, Giuseppina

Calprotectin Levels and Neutrophil Count Are Prognostic Markers of Mortality in COVID-19 Patients

钙卫蛋白水平和中性粒细胞计数是新冠肺炎患者死亡率的预后指标

Cardiero, Giovanna; Palma, Daniela; Vano, Martina; Anastasio, Claudia; Pinchera, Biagio; Ferrandino, Martina; Gianfico, Carlo; Gentile, Luca; Savoia, Marcella; Gentile, Ivan; Di Taranto, Maria Donata; Fortunato, Giuliana