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

Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in the DST gene: the first Italian case and literature review

由DST基因复合杂合突变引起的常染色体隐性遗传性单纯性大疱性表皮松解症:首例意大利病例及文献综述

Diociaiuti, Andrea; Zingarelli, Ruggiero Davide; D'Urso, Dario Francesco; Zambruno, Giovanna; El Hachem, May

Management of oesophageal strictures in inherited epidermolysis bullosa: a clinical practice guideline

遗传性大疱性表皮松解症食管狭窄的治疗:临床实践指南

El Hachem, May; Caldaro, Tamara; Lara-Corrales, Irene; Pope, Elena; Jones, Rosie; Bageta, Maria L; Heaton, Jennifer; Martinez, Anna E; Ferreira da Rocha, Anna Carolina; Bodemer, Christine; Russo, Claudia; Tagkalidis, Peter; Brains, Lisa M; McGuirk, Simon P; Diamantopoulos, Athanasios; Feinstein, James A; Zambruno, Giovanna; Mayre-Chilton, Kattya; De Angelis, Paola

miR-129-1-3p down-regulation promotes BAG cochaperone 3 (BAG3)-driven pro-fibrotic processes in primary fibroblasts from patients with recessive dystrophic epidermolysis bullosa

miR-129-1-3p 下调促进隐性营养不良型大疱性表皮松解症患者原代成纤维细胞中 BAG 辅助伴侣蛋白 3 (BAG3) 驱动的促纤维化过程

Nobili, Rebecca; Barbagallo, Cristina; Ragusa, Marco; Genovese, Jasmine; D'Agostino, Valentina; Diociaiuti, Andrea; Castiglia, Daniele; Odorisio, Teresa; Zambruno, Giovanna; El Hachem, May; Condorelli, Angelo Giuseppe

Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant

与先前未描述的MAP3K3变异相关的疣状静脉畸形的自发性消退

Diociaiuti, Andrea; Bellacchio, Emanuele; Cesario, Claudia; Rossi, Sabrina; Zambruno, Giovanna; El Hachem, May

Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus

从出生到成年期对隐性营养不良型大疱性表皮松解症患者进行护理:一项意大利多学科德尔菲共识

El Hachem, May; Diociaiuti, Andrea; Bonamonte, Domenico; Brena, Michela; Lospalluti, Lucia; Magnoni, Cristina; Neri, Iria; Peris, Ketty; Tadini, Gianluca; Zambruno, Giovanna

Epidermolysis-Bullosa-Associated Squamous Cell Carcinomas Support an Immunosuppressive Tumor Microenvironment: Prospects for Immunotherapy

表皮松解性水疱症相关鳞状细胞癌支持免疫抑制性肿瘤微环境:免疫治疗的前景

Rafei-Shamsabadi, David; Scholten, Lena; Lu, Sisi; Castiglia, Daniele; Zambruno, Giovanna; Volz, Andreas; Arnold, Andreas; Saleva, Mina; Martin, Ludovic; Technau-Hafsi, Kristin; Meiss, Frank; von Bubnoff, Dagmar; Has, Cristina

"Quality of Life in Epidermolysis Bullosa" and "Epidermolysis Bullosa Burden of Disease": Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires

《大疱性表皮松解症患者的生活质量》和《大疱性表皮松解症的疾病负担》:两种疾病特异性问卷的意大利语翻译、文化适应和试点测试

El Hachem, May; Diociaiuti, Andrea; Zambruno, Giovanna; Samela, Tonia; Ferretti, Francesca; Carnevale, Claudia; Linertová, Renata; Bodemer, Christine; Murrell, Dédée F; Abeni, Damiano

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients

一项关于常染色体隐性遗传性先天性鱼鳞病的横断面研究:74例意大利患者的基因型与疾病严重程度、表型和超微结构特征的关联

Diociaiuti, Andrea; Corbeddu, Marialuisa; Rossi, Sabrina; Pisaneschi, Elisa; Cesario, Claudia; Condorelli, Angelo Giuseppe; Samela, Tonia; Giancristoforo, Simona; Angioni, Adriano; Zambruno, Giovanna; Novelli, Antonio; Alaggio, Rita; Abeni, Damiano; El Hachem, May

SARS-CoV-2 infection of thymus induces loss of function that correlates with disease severity

SARS-CoV-2 感染胸腺可导致与疾病严重程度相关的功能丧失

Marco Rosichini, Veronica Bordoni, Domenico Alessandro Silvestris, Davide Mariotti, Giulia Matusali, Antonella Cardinale, Giovanna Zambruno, Angelo Giuseppe Condorelli, Sara Flamini, Shirley Genah, Marialuigia Catanoso, Franca Del Nonno, Matteo Trezzi, Lorenzo Galletti, Cristiano De Stefanis, Nicolò

S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV)

由欧洲皮肤病与性病学会 (EADV) 发起的 S2k 副肿瘤性天疱疮/副肿瘤性自身免疫性多器官综合征管理指南

Antiga, Emiliano; Bech, Rikke; Maglie, Roberto; Genovese, Giovanni; Borradori, Luca; Bockle, Barbara; Caproni, Marzia; Caux, Frédéric; Chandran, Nisha Suyien; Corrà, Alberto; D'Amore, Francesco; Daneshpazhooh, Maryam; De, Dipankar; Didona, Dario; Dmochowski, Marian; Drenovska, Kossara; Ehrchen, Jan; Feliciani, Claudio; Goebeler, Matthias; Groves, Richard; Günther, Claudia; Handa, Sanjeev; Hofmann, Silke C; Horvath, Barbara; Ioannidis, Dimitrios; Jedlickova, Hana; Kowalewski, Cezary; Kridin, Khalaf; Joly, Pascal; Lim, Yen Loo; Marinovic, Branka; Maverakis, Emanual; Meijer, Joost; Patsatsi, Aikaterini; Pincelli, Carlo; Prost, Catherine; Setterfield, Jane; Sprecher, Eli; Skiljevic, Dusan; Tasanen, Kaisa; Uzun, Soner; Van Beek, Nina; Vassileva, Snejina; Vorobyev, Artem; Vujic, Igor; Wang, Gang; Wang, Mingyue; Wozniak, Katarzyna; Yayli, Savas; Zambruno, Giovanna; Hashimoto, Takashi; Schmidt, Enno; Mascarò, José Manuel Jr; Marzano, Angelo Valerio