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

Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies

基因型-表型相关性及遗传性TRPC6足细胞病临床结局

McAnallen, Susan M; Elhassan, Elhussein A E; Stoneman, Sinead; Pinto E Vairo, Filippo; Hogan, Marie C; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M; Jorge, Sofia; Calado, Joaquim; Decramer, Stéphane; Colliou, Eloïse; Tellier, Stéphanie; Francisco, Telma; Servais, Aude; Cornet, Joséphine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kálmán, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J; Mallett, Andrew J; Sayer, John A; Schafer, Franz; Benson, Katherine A; McCann, Emma; Conlon, Peter J

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant

由COL4A3剪接变异引起的缓慢进展型常染色体显性遗传Alport综合征

Daga, Sergio; Loberti, Lorenzo; Rollo, Giulia; Adamo, Loredaria; Colavecchio, Olga Lorenza; Brunelli, Giulia; Zguro, Kristina; Tripodi, Sergio Antonio; Guarnieri, Andrea; Garosi, Guido; D'Aurizio, Romina; Ariani, Francesca; Tita, Rossella; Renieri, Alessandra; Pinto, Anna Maria

Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant

更正:由 COL4A3 剪接变异引起的缓慢进展性常染色体显性遗传 Alport 综合征

Daga, Sergio; Loberti, Lorenzo; Rollo, Giulia; Adamo, Loredaria; Colavecchio, Olga Lorenza; Brunelli, Giulia; Zguro, Kristina; Tripodi, Sergio Antonio; Guarnieri, Andrea; Garosi, Guido; D'Aurizio, Romina; Ariani, Francesca; Tita, Rossella; Renieri, Alessandra; Pinto, Anna Maria

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy

针对巨头畸形和自闭症谱系障碍/行为异常的临床遗传学方法:PTEN 和 PPP2R5D 变异是患者导向诊断策略中最常见的基因突变

L'Erario, Federica Francesca; Gazzellone, Annalisa; Contaldo, Ilaria; Veredice, Chiara; Carapelle, Marina; Renzi, Anna Gloria; Modafferi, Clarissa; Palucci, Marta; D'Ambrosio, Pino; Sonnini, Elena; Loberti, Lorenzo; Panfili, Arianna; Lucci Cordisco, Emanuela; Chiurazzi, Pietro; Trevisan, Valentina; Leoni, Chiara; Zampino, Giuseppe; Pomponi, Maria Grazia; Orteschi, Daniela; Zollino, Marcella; Marangi, Giuseppe

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

87 名成年人的 ARID1B 相关疾病:自然史和自我维持

van der Sluijs, P J; Gösgens, M; Dingemans, A J M; Striano, P; Riva, A; Mignot, C; Faudet, A; Vasileiou, G; Walther, M; Schrier Vergano, S A; Alders, M; Alkuraya, F S; Alorainy, I; Alsaif, H S; Anderlid, B; Bache, I; van Beek, I; Blanluet, M; van Bon, B W; Brunet, T; Brunner, H; Carriero, M L; Charles, P; Chatron, N; Coccia, E; Dubourg, C; Earl, R K; Eichler, E E; Faivre, L; Foulds, N; Graziano, C; Guerrot, A M; Hashem, M O; Heide, S; Heron, D; Hickey, S E; Hopman, S M J; Kattentidt-Mouravieva, A; Kerkhof, J; Klein Wassink-Ruiter, J S; Kurtz-Nelson, E C; Kušíková, K; Kvarnung, M; Lecoquierre, F; Leszinski, G S; Loberti, L; Magoulas, P L; Mari, F; Maystadt, I; Merla, G; Milunsky, J M; Moortgat, S; Nicolas, G; Leary, M O '; Odent, S; Ozmore, J R; Parbhoo, K; Pfundt, R; Piccione, M; Pinto, A M; Popp, B; Putoux, A; Rehm, H L; Reis, A; Renieri, A; Rosenfeld, J A; Rossi, M; Salzano, E; Saugier-Veber, P; Seri, M; Severi, G; Sonmez, F M; Strobl-Wildemann, G; Stuurman, K E; Uctepe, E; Van Esch, H; Vitetta, G; de Vries, B B A; Wahl, D; Wang, T; Zacher, P; Heitink, K R; Ropers, F G; Steenbeek, D; Rybak, T; Santen, G W E

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

病例报告:PIK3CA 体细胞突变导致 Klippel Trenaunay 综合征和多种肿瘤

Viola Bianca Serio, Maria Palmieri, Simona Innamorato, Lorenzo Loberti, Chiara Fallerini, Francesca Ariani, Enrica Antolini, Jasmine Covarelli, Massimo Vaghi, Elisa Frullanti, Alessandra Renieri, Anna Maria Pinto

Natural history of KBG syndrome in a large European cohort

大型欧洲人群中 KBG 综合征的自然病程

Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Truj

Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy

通过 cfDNA NGS 液体活检对血管畸形进行疾病分类和治疗诊断

Viola Bianca Serio, Maria Palmieri, Lorenzo Loberti, Stefania Granata, Chiara Fallerini, Massimo Vaghi, Alessandra Renieri, Anna Maria Pinto

Delimiting cryptic morphological variation among human malaria vector species using convolutional neural networks

利用卷积神经网络界定人类疟疾媒介物种间隐性形态变异

Couret, Jannelle; Moreira, Danilo C; Bernier, Davin; Loberti, Aria Mia; Dotson, Ellen M; Alvarez, Marco

Multilevel Barriers to Engagement in the HIV Care Continuum Among Residents of the State of Rhode Island Living with HIV

罗德岛州艾滋病毒感染者参与艾滋病毒护理连续体的多重障碍

Mimiaga, Matthew J; August Oddleifson, D; Meersman, Stephen C; Silvia, Annie; Hughto, Jaclyn M W; Landers, Stewart; Brown, Emily; Loberti, Paul