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

Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias

SEC23B 和 PIEZO1 中多个遗传变异对遗传性贫血中铁代谢失衡的累加效应

Nostroso, Antonella; Marra, Roberta; Rosato, Barbara Eleni; Iscaro, Anthony; Esposito, Federica Maria; D'Onofrio, Vanessa; Dionisi, Manuela; Ribersani, Michela; Giordano, Francesca; Bulla, Anna; Del Vecchio, Giovanni Carlo; Scianguetta, Saverio; Mandrile, Giorgia; Ceglie, Teresa; Scudiero, Olga; Ferrero, Giovanni Battista; Perrotta, Silverio; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta

High Prevalence of Non-BRCA Pathogenic Variants and a Recurrent PALB2 Variant in an Argentine Hereditary Breast and Ovarian Cancer Cohort

阿根廷遗传性乳腺癌和卵巢癌队列中非BRCA致病变异和复发性PALB2变异的高患病率

Martin, Claudia Alejandra; Bono, Catalina; Mandrile, Juliana; Kunst, Christine Susana Mercedes; Borello, Adriana Elizabeth; Ávila, Rodolfo; Salazar, Florencia Celeste; Miretti, Virginia; Pabletich, Florencia; Andreoli, Verónica; Ceschin, Danilo Guillermo

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported

全球原发性高草酸尿症的遗传患病率估计值高于先前报道的水平。

Mandrile, Giorgia; Rumsby, Gill; Sciannameo, Veronica; Cogal, Andrea G; Glover, Michelle; Lieske, John C; Harris, Peter C

COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet

欧洲注册登记处ERN-EuroBloodNet的研究结果显示,患有红细胞疾病的患者感染COVID-19的情况较为严重。

Velasco Puyo, Pablo; Christou, Soteroula; Campisi, Saveria; Rodríguez-Sánchez, Maria A; Reidel, Sara; Perez-Hoyo, Santiago; Mota, Miriam; Savvidou, Irene; Rekleiti, Anna; Salvo, Alessandra; Voi, Vincenzo; Ferrero, Giovanni Battista; Mandrile, Giorgia; Gaglioti, Carmen Maria; Cela, Elena; Ponce-Salas, Beatriz; Bardón-Cancho, Eduardo J; Flevari, Pagona; Voskaridou-Dimoula, Ersi; Nur, Erfan; Biemond, Bart J; Delaporta, Polynexi; Beneitez-Pastor, David; Collado Gimbert, Anna; Spasiano, Anna; Besse-Hammer, Tatiana; Lafiatis, Ioannis G; Dedeken, Laurence; Raso, Simona; Ruiz-Llobet, Anna; Bagnato, Sabrina; Labarque, Veerle; Glenthøj, Andreas; Ruffo, Giovan Battista; Guerzoni, Maria Elena; Hafraoui, Kaoutar; Pistoia, Laura; Rosso, Rosamaria; Tagliaferri, Laura; Gonzalez-Urdiales, Paula; Benghiat, Fleur Samantha; de Montalembert, Mariane; Teles, Maria Jose; Vanderfaeillie, Anna; Bertoni, Elisa; Cuzzubbo, Daniela; Ferreira, Teresa; Saunders, Christopher J; Stiakaki, Eftichia; Van de Velde, Ann L; Diamantidis, Michael D; Kerkhoffs, Jean-Louis H; Oliveira, Marisa I; Quota, Alessandra; Russo, Roberta; Van Damme, An; Argüello Marina, María; Lorite Reggiori, Mikael; Rijneveld, Anita W; Rodríguez Gallego, Alexis; Colombatti, Raffaella; Iolascon, Achille; Taher, Ali; Gulbis, Béatrice; Roy, Noémi B A; Mañú-Pereira, María Del Mar

Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists

肾结石的遗传学及其在预防中的作用:泌尿科医生指南

Pintus, Francesco; Giordano, Noemi; Giachino, Daniela Francesca; Mandrile, Giorgia

SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway

SMART Stone 多学科团队 (MDT) 和患者护理:成人高危肾结石患者诊疗路径建议

Somani, Bhaskar; Emiliani, Esteban; Knoll, Thomas; Mandrile, Giorgia; Rumsby, Gill; Acquaviva, Cecile; Bhojani, Naeem; Bin Hamri, Saeed; Bres-Niewada, Ewa; Davis, Niall F; Fuster, Daniel G; Garrelfs, Sander F; Gauhar, Vineet; Hamamoto, Shuzo; Juliebø-Jones, Patrick; Leporati, Marta; Letavernier, Emmanuel; Takayama, Tatsuya; Tzelves, Lazaros; Yuen, Steffi Kar Kei; Ferraro, Pietro Manuel

Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway

更正:SMART 结石多学科团队 (MDT) 和患者护理:成人高危肾结石患者路径建议

Somani, Bhaskar; Emiliani, Esteban; Knoll, Thomas; Mandrile, Giorgia; Rumsby, Gill; Acquaviva, Cecile; Bhojani, Naeem; Bin Hamri, Saeed; Bres-Niewada, Ewa; Davis, Niall F; Fuster, Daniel G; Garrelfs, Sander F; Gauhar, Vineet; Hamamoto, Shuzo; Juliebø-Jones, Patrick; Leporati, Marta; Letavernier, Emmanuel; Takayama, Tatsuya; Tzelves, Lazaros; Yuen, Steffi Kar Kei; Ferraro, Pietro Manuel

Primary hyperoxaluria type 1 diagnosis in adult dialysis patients: prediction model assessment in a group of Italian patients

成人透析患者原发性高草酸尿症1型诊断:意大利患者群体预测模型评估

Ferraro, Pietro Manuel; Arbustini, Eloisa; Bellino, Diego; Caletti, Chiara; Capelli, Irene; Capolongo, Giovanna; Caruso, Maria Rosa; Cianfrone, Paola; D'Alessandro, Maria Michela; Di Luca, Marina; Gambaro, Giovanni; Palmisano, Alessandra; Ranghino, Andrea; Santagostino Barbone, Gaia; Viazzi, Francesca; Zambianchi, Loretta; Mandrile, Giorgia

Effect of the allelic background on the phenotype of primary hyperoxaluria type I

等位基因背景对原发性高草酸尿症 I 型表型的影响

Mandrile, Giorgia; Cellini, Barbara; Ferraro, Pietro Manuel

Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy

意大利北部一项为期40年的回顾性观察研究:产前诊断血红蛋白病态度的转变

Voi, Vincenzo; Giordano, Noemi; Sciannameo, Veronica; Sciarrone, Andrea; Sbaiz, Luca; Barberis, Marco; Curcio, Cristina; Irrera, Milena Agata; Roetto, Antonella; Piga, Antonio; Giachino, Daniela Francesca; Mandrile, Giorgia