Zobrazeno 1 - 10
of 134
pro vyhledávání: '"Mara GIORDANO"'
Autor:
Simona F. Madeo, Luca Zagaroli, Sara Vandelli, Valeria Calcaterra, Antonino Crinò, Luisa De Sanctis, Maria Felicia Faienza, Danilo Fintini, Laura Guazzarotti, Maria Rosaria Licenziati, Enza Mozzillo, Roberta Pajno, Emanuela Scarano, Maria E. Street, Malgorzata Wasniewska, Sarah Bocchini, Carmen Bucolo, Raffaele Buganza, Mariangela Chiarito, Domenico Corica, Francesca Di Candia, Roberta Francavilla, Nadia Fratangeli, Nicola Improda, Letteria A. Morabito, Chiara Mozzato, Virginia Rossi, Concetta Schiavariello, Giovanni Farello, Lorenzo Iughetti, Vincenzo Salpietro, Alessandro Salvatoni, Mara Giordano, Graziano Grugni, Maurizio Delvecchio
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The ne
Externí odkaz:
https://doaj.org/article/c1738baa0e3049e2aabf886903f94dc3
Autor:
Valentina Mancioppi, Tommaso Daffara, Martina Romanisio, Giovanni Ceccarini, Caterina Pelosini, Ferruccio Santini, Simonetta Bellone, Simona Mellone, Alessio Baricich, Ivana Rabbone, Gianluca Aimaretti, Baris Akinci, Mara Giordano, Flavia Prodam
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by muta
Externí odkaz:
https://doaj.org/article/0a8266163f6e49a698c371cde0be45f3
Autor:
Valentina Mancioppi, Erica Pozzi, Sara Zanetta, Anna Missineo, Silvia Savastio, Fabrizio Barbetti, Simona Mellone, Mara Giordano, Ivana Rabbone
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Neonatal diabetes mellitus (NDM) is a rare genetic disease characterized by severe hyperglycemia requiring insulin therapy with onset mostly within the first 6 months and rarely between 6-12 months of age. The disease can be classified into transient
Externí odkaz:
https://doaj.org/article/0a4ec7a63a304a0eabfb274a9b453fe6
Autor:
Mattia Bellan, Daria Apostolo, Alice Albè, Martina Crevola, Nicolò Errica, Giacomo Ratano, Stelvio Tonello, Rosalba Minisini, Davide D’Onghia, Alessio Baricich, Filippo Patrucco, Patrizia Zeppegno, Carla Gramaglia, Piero Emilio Balbo, Giuseppe Cappellano, Sara Casella, Annalisa Chiocchetti, Elisa Clivati, Mara Giordano, Marcello Manfredi, Giuseppe Patti, David James Pinato, Chiara Puricelli, Davide Raineri, Roberta Rolla, Pier Paolo Sainaghi, Mario Pirisi, the No-More COVID study group, Errica Nicolò, Antonio Acquavivas, Luigi Mario Castello, Gian Carlo Avanzi, Giulia Baldon, Michela Barini, Marco Battaglia, Simone Bor, Vincenzo Cantaluppi, Alessandro Carriero, Daria Cuneo, Eleonora Gambaro, Luisa Isabella, Alberto Loro, Debora Marangon, Emanuele Mones, Elena Paracchini, Stefano Tricca
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
RationaleFactors associated with long-term sequelae emerging after the acute phase of COVID-19 (so called “long COVID”) are unclear. Here, we aimed to identify risk factors for the development of COVID-19 sequelae in a prospective cohort of subje
Externí odkaz:
https://doaj.org/article/7efc88d8a98041c18890c95bb055c6a8
Autor:
Mattia Bellan, Alessio Baricich, Filippo Patrucco, Patrizia Zeppegno, Carla Gramaglia, Piero Emilio Balbo, Alessandro Carriero, Chiara Santa Amico, Gian Carlo Avanzi, Michela Barini, Marco Battaglia, Simone Bor, Vincenzo Cantaluppi, Giuseppe Cappellano, Federico Ceruti, Annalisa Chiocchetti, Elisa Clivati, Mara Giordano, Daria Cuneo, Eleonora Gambaro, Eleonora Gattoni, Alberto Loro, Marcello Manfredi, Umberto Morosini, Francesco Murano, Elena Paracchini, Giuseppe Patti, David James Pinato, Davide Raineri, Roberta Rolla, Pier Paolo Sainaghi, Stefano Tricca, Mario Pirisi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Many coronavirus disease 2019 (Covid-19) survivors show symptoms months after acute illness. The aim of this work is to describe the clinical evolution of Covid-19, one year after discharge. We performed a prospective cohort study on 238 pat
Externí odkaz:
https://doaj.org/article/b7f89da2e7f44cdf85752b2f708e7737
Autor:
Simona Mellone, Chiara Puricelli, Denise Vurchio, Sara Ronzani, Simone Favini, Arianna Maruzzi, Cinzia Peruzzi, Amanda Papa, Alice Spano, Fabio Sirchia, Giorgia Mandrile, Alessandra Pelle, Paolo Rasmini, Fabiana Vercellino, Andrea Zonta, Ivana Rabbone, Umberto Dianzani, Maurizio Viri, Mara Giordano
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%–5% of children and represents a public health challenge due to complexity of the etiology. Only few patients with unexpl
Externí odkaz:
https://doaj.org/article/edf91342563a4c4b8c9586727480c023
Autor:
Mara Giordano, Liborio Stuppia
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/5ddb38a9fed24b07b69f7721c59a8eeb
Autor:
Federica Costa, Eleonora Beltrami, Simona Mellone, Sara Sacchetti, Elena Boggio, Casimiro Luca Gigliotti, Ian Stoppa, Umberto Dianzani, Roberta Rolla, Mara Giordano
Publikováno v:
Biomedicines, Vol 11, Iss 4, p 1127 (2023)
Monogenic autoimmune disorders represent an important tool to understand the mechanisms behind central and peripheral immune tolerance. Multiple factors, both genetic and environmental, are known to be involved in the alteration of the immune activat
Externí odkaz:
https://doaj.org/article/1289b07fc1e44e2db079d5c833c339cb
Autor:
Antonella Fanelli, Silvia Vannelli, Deepak Babu, Simona Mellone, Alessia Cucci, Alice Monzani, Wael Al Essa, Andrea Secco, Antonia Follenzi, Simonetta Bellone, Flavia Prodam, Mara Giordano
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Abstract Background SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non‐coding elements (CNEs) represent one of the most frequent cause of SHOX‐haploinsufficiency. During the diagnostic workflow deletions/
Externí odkaz:
https://doaj.org/article/0809b76504b14cf68a465c985fbba9f8
Autor:
Valentina Mancioppi, Flavia Prodam, Simona Mellone, Roberta Ricotti, Enza Giglione, Nicolino Grasso, Denise Vurchio, Antonella Petri, Ivana Rabbone, Mara Giordano, Simonetta Bellone
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Short stature is a frequent disorder in the pediatric population and can be caused by multiple factors. In the last few years, the introduction of Next Generation Sequencing (NGS) in the molecular diagnostic workflow led to the discovery of mutations
Externí odkaz:
https://doaj.org/article/05e29fa2840e4996a52596869503b1cb