Zobrazeno 1 - 10
of 237
pro vyhledávání: '"Alessandra Renieri"'
Autor:
Judy Savige, Alessandra Renieri, Elisabet Ars, Sergio Daga, Anna Maria Pinto, Hansjorg Rothe, Daniel P. Gale, Marina Aksenova, Agne Cerkauskaite, Olga Bielska, Beata Lipska-Zietkiewicz, Joel T. Gibson
Publikováno v:
Clinical Journal of the American Society of Nephrology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4. Where digenic Alport syndrome includes a pathogenic COL4A5 variant, the consequences depend on the sex of the affected
Autor:
Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, Caterina Lo Rizzo, Sara Resciniti, Mirella Bruttini, Lista Mirjam, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Publikováno v:
American Journal of Medical Genetics Part A. 191:284-288
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients
Publikováno v:
European Journal of Human Genetics. 30:899-907
The COVID-19 pandemic caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is having a massive impact on public health, societies, and economies worldwide. Despite the ongoing vaccination program, treating COVID-19 remains a hig
Autor:
Margherita, Baldassarri, Kristina, Zguro, Valeria, Tomati, Cristina, Pastorino, Francesca, Fava, Susanna, Croci, Mirella, Bruttini, Nicola, Picchiotti, Simone, Furini, Nicoletta, Pedemonte, Chiara, Gabbi, Alessandra, Renieri, Chiara, Fallerini, Marco Antonio, Bellini
Publikováno v:
Cells. 11(24)
Carriers of single pathogenic variants of the
Autor:
Francesca Catapano, Mohamed El Hachmi, Natacha Ketterer-Heng, Alessandra Renieri, Francesca Mari, Michael Morris, Christophe Cordier
Publikováno v:
European journal of human genetics : EJHG. 30(12)
Genetics has begun to be considered a key medical discipline which can have an impact on everyday clinical practice. Therefore, it is necessary to understand what the most effective way is of caring for people affected by or at risk of genetic disord
Autor:
Alessandra Renieri
Publikováno v:
European journal of human genetics : EJHG. 30(8)
Autor:
Sai Zhang, Johnathan Cooper-Knock, Annika K. Weimer, Minyi Shi, Lina Kozhaya, Derya Unutmaz, Calum Harvey, Thomas H. Julian, Simone Furini, Elisa Frullanti, Francesca Fava, Alessandra Renieri, Peng Gao, Xiaotao Shen, Ilia Sarah Timpanaro, Kevin P. Kenna, J. Kenneth Baillie, Mark M. Davis, Philip S. Tsao, Michael P. Snyder
Publikováno v:
medRxiv
Zhang, S, Cooper-Knock, J, Weimer, A K, Shi, M, Kozhaya, L, Unutmaz, D, Harvey, C, Julian, T H, Furini, S, Frullanti, E, Fava, F, Renieri, A, Gao, P, Shen, X, Timpanaro, I S, Kenna, K P, Baillie, J K, Davis, M M, Tsao, P S & Snyder, M P 2022, ' Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity ', Cell Systems, vol. 13, no. 8, pp. 598-614.e6 . https://doi.org/10.1016/j.cels.2022.05.007
Zhang, S, Cooper-Knock, J, Weimer, A K, Shi, M, Kozhaya, L, Unutmaz, D, Harvey, C, Julian, T H, Furini, S, Frullanti, E, Fava, F, Renieri, A, Gao, P, Shen, X, Timpanaro, I S, Kenna, K P, Baillie, J K, Davis, M M, Tsao, P S & Snyder, M P 2022, ' Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity ', Cell Systems, vol. 13, no. 8, pp. 598-614.e6 . https://doi.org/10.1016/j.cels.2022.05.007
The determinants of severe COVID-19 in non-elderly adults are poorly understood, which limits opportunities for early intervention and treatment. Here we present novel machine learning frameworks for identifying common and rare disease-associated gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee53376ea581a5028c54e7186b170fe2
https://eprints.whiterose.ac.uk/189196/1/1-s2.0-S2405471222002289-main.pdf
https://eprints.whiterose.ac.uk/189196/1/1-s2.0-S2405471222002289-main.pdf
Autor:
Alessandra Renieri, Margherita Baldassarri, Annarita Giliberti, Laura Di Sarno, Elisa Frullanti, Chiara Fallerini, Gabriella Doddato, Andrea Tommasi, Aldo Arzini, Aurora Currò, Anna Maria Pinto, Massimo Vaghi, Maria Palmieri
Publikováno v:
Journal of Vascular Surgery: Venous and Lymphatic Disorders. 9:740-744
Objective Germline mutations of either the endothelial cell-specific tyrosine kinase receptor TIE2 or the glomulin (GLMN) gene are responsible for rare inherited venous malformations. Both genes affect the hepatocyte growth factor receptor c-Met, ind
Autor:
Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot‐Bastaraud, Claire Beneteau, Marie Denis‐Musquer, Peter D. Turnpenny, Charles Coutton, Gaëlle Vieville, Julien Thevenon, Austin Larson, Florence Petit, Elise Boudry, Thomas Smol, Bruno Delobel, Bénédicte Duban‐Bedu, Chiara Fallerini, Francesca Mari, Caterina Lo Rizzo, Alessandra Renieri, Jean‐Hubert Caberg, Anne‐Sophie Denommé‐Pichon, Frédéric Tran Mau‐Them, Isabelle Maystadt, Thomas Courtin, Boris Keren, Linda Mouthon, Perrine Charles, Silvestre Cuinat, Bertrand Isidor, Philippe Theis, Christian Müller, Marizela Kulisic, Seval Türkmen, Daniel Stieber, Dominique Bourgeois, Emmanuel Scalais, Barbara Klink
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 102 (2), pp.117-122. ⟨10.1111/cge.14141⟩
Clinical Genetics, 2022, 102 (2), pp.117-122. ⟨10.1111/cge.14141⟩
International audience; BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic variati
Publikováno v:
The Journal of infection. 85(3)
COVID-19 has shown a relevant heterogeneity in spread and fatality among countries together with a significant variability in its clinical presentation, indicating that host genetic factors may influence COVID-19 pathogenicity. Indeed, subjects carry