Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Daniele Guadagnolo"'
Autor:
Eva Piano Mortari, Federica Pulvirenti, Valentina Marcellini, Sara Terreri, Ane Fernandez Salinas, Simona Ferrari, Giulia Di Napoli, Daniele Guadagnolo, Eleonora Sculco, Christian Albano, Marika Guercio, Stefano Di Cecca, Cinzia Milito, Giulia Garzi, Anna Maria Pesce, Livia Bonanni, Matilde Sinibaldi, Veronica Bordoni, Serena Di Cecilia, Silvia Accordini, Concetta Castilletti, Chiara Agrati, Concetta Quintarelli, Salvatore Zaffina, Franco Locatelli, Rita Carsetti, Isabella Quinti
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionAssessing the response to vaccinations is one of the diagnostic criteria for Common Variable Immune Deficiencies (CVIDs). Vaccination against SARS-CoV-2 offered the unique opportunity to analyze the immune response to a novel antigen. We
Externí odkaz:
https://doaj.org/article/0fcf59fc30ee47eeaefe302b9296e6ea
Autor:
Federica Pulvirenti, Bianca Laura Cinicola, Simona Ferrari, Daniele Guadagnolo, Eleonora Sculco, Martina Capponi, Lorenzo Loffredo, Maddalena Sciannamea, Antonella Insalaco, Isabella Quinti, Fabrizio De Benedetti, Anna Maria Zicari
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Deficiency of adenosine deaminase 2 (DADA2) is a rare systemic autoinflammatory disease, typically with autosomal recessive inheritance, usually caused by biallelic loss of function mutations in the ADA2 gene. The phenotypic spectrum is broad, genera
Externí odkaz:
https://doaj.org/article/e6f486c3deed4e109a431f0264f6e2d3
Autor:
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Publikováno v:
Genes, Vol 14, Iss 12, p 2157 (2023)
Chromosomal submicroscopic imbalances represent well-known causes of neurodevelopmental disorders. In some cases, these can cause specific autosomal dominant syndromes, with high-to-complete penetrance and de novo occurrence of the variant. In other
Externí odkaz:
https://doaj.org/article/06e6ae9c205f472abaa095694479a332
Autor:
Daniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, Aldo Germani, Fabio Libi, Soha Sadeghi, Camilla Savio, Simona Petrucci, Laura De Marchis, Maria Piane, Antonio Pizzuti
Publikováno v:
Biomedicines, Vol 11, Iss 7, p 2062 (2023)
Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated (ATM) gene (MIM* 607585) increase the risk for breast, pancreatic, gastric, and prostatic cancer and, to a reduced extent, ovarian and colon cancer and melanoma, with moderate pe
Externí odkaz:
https://doaj.org/article/255bb07012884511b695345d641ba024
Autor:
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
Publikováno v:
Diagnostics, Vol 13, Iss 1, p 48 (2022)
Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma. The prenatal detection of these findings should prompt an accurate asses
Externí odkaz:
https://doaj.org/article/c64ca71febf946c8a8bcb74933338c65
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Parkinson disease (PD) is a complex neurodegenerative disorder, usually with multifactorial etiology. It is characterized by prominent movement disorders and non-motor symptoms. Movement disorders commonly include bradykinesia, rigidity, and resting
Externí odkaz:
https://doaj.org/article/f16ede12f3734c008c19d28300eddc54
Autor:
Aldo Germani, Daniele Guadagnolo, Valentina Salvati, Caterina Micolonghi, Rita Mancini, Gioia Mastromoro, Soha Sadeghi, Simona Petrucci, Antonio Pizzuti, Maria Piane
Publikováno v:
Diagnostics, Vol 12, Iss 7, p 1520 (2022)
CHEK2 (checkpoint kinase 2; MIM# 604373) is a tumor suppressor gene that encodes a serine threonine kinase involved in pathways such as DNA repair, cell cycle arrest, mitosis, and apoptosis. Pathogenic variants in CHEK2 contribute to a moderately inc
Externí odkaz:
https://doaj.org/article/eab7b6887a2242fe835bf1cc28c98f79
Autor:
Gioia Mastromoro, Nader Khaleghi Hashemian, Daniele Guadagnolo, Maria Grazia Giuffrida, Barbara Torres, Laura Bernardini, Flavia Ventriglia, Gerardo Piacentini, Antonio Pizzuti
Publikováno v:
Diagnostics, Vol 12, Iss 6, p 1328 (2022)
Cardiovascular malformations (CVM) represent the most common structural anomalies, occurring in 0.7% of live births. The CVM prenatal suspicion should prompt an accurate investigation with fetal echocardiography and the assessment through genetic cou
Externí odkaz:
https://doaj.org/article/2fb2ac172a94405fbae6a7fee28359f8
Autor:
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Enrica Marchionni, Alice Traversa, Antonio Pizzuti
Publikováno v:
Diagnostics, Vol 12, Iss 3, p 575 (2022)
Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for cytogenetics and molecular testing. “Structural anomalies” include non-transient anatomic alterations. “Soft markers” are often transient minor ultrasoun
Externí odkaz:
https://doaj.org/article/c3a14fc1b068421ca949cbbcaeb39b84
Autor:
Alice Traversa, Silvia Bernardo, Alessandro Paiardini, Agnese Giovannetti, Enrica Marchionni, Maria Luce Genovesi, Daniele Guadagnolo, Barbara Torres, Stefano Paolacci, Laura Bernardini, Tommaso Mazza, Massimo Carella, Viviana Caputo, Antonio Pizzuti
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation wit
Externí odkaz:
https://doaj.org/article/49ec2ce020a645f7a548bb81b061a0e3