Not logged inSID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome
Frontino, Giulio; Delvecchio, Maurizio; Prudente, Sabrina; Sordi, Valeria Daniela; Barboni, Piero; Di Giamberardino, Alessandra; Rutigliano, Alessandra; Pellegrini, Silvia; Caretto, Amelia; Cascavilla, Maria Lucia; Bonfanti, Riccardo; D'Annunzio, Giuseppe; Lombardo, Fortunato; Piemonti, Lorenzo .png)
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SaveROCK2 and its alternatively spliced isoform ROCK2m positively control the maturation of the myogenic programPelosi, Michele; Marampon, Francesco; Zani, Bianca M.; Prudente, Sabrina; Perlas, Emerald; Caputo, Viviana; Cianetti, Luciano; Berno, Valeria; Narumiya, Shuh; Kang, Shin W.; Musaro, Antonio; Rosenthal, Nadia Share Save Share Save Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patientsPrudente, Sabrina; Andreozzi, Francesco; Mercuri, Luana; Alberico, Federica; Di Giamberardino, Alessandra; Mannino, Gaia Chiara; Ludovico, Ornella; Piscitelli, Pamela; Di Paola, Rosa; Morano, Susanna; Penno, Giuseppe; Carella, Massimo; De Cosmo, Salvatore; Trischitta, Vincenzo; Barbetti, Fabrizio Share Save Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetesPezzilli, Serena; Mazza, Tommaso; Scarale, Maria Giovanna; Tang, Yaling; Andreozzi, Francesco; Baroni, Marco Giorgio; Buzzetti, Raffaella; Cavallo, Maria Gisella; Cossu, Efisio; D'Angelo, Paola; De Cosmo, Salvatore; Lamacchia, Olga; Leonetti, Frida; Morano, Susanna; Morviducci, Lelio; Penno, Giuseppe; Pozzilli, Paolo; Pugliese, Giuseppe; Sesti, Giorgio; Doria, Alessandro; Trischitta, Vincenzo; Prudente, Sabrina Share Save Gain of Function of Malate Dehydrogenase 2 and Familial HyperglycemiaThamtarana, Prapaporn Jungtrakoon; Marucci, Antonella; Pannone, Luca; Bonnefond, Amelie; Pezzilli, Serena; Biagini, Tommaso; Buranasupkajorn, Patinut; Hastings, Timothy; Mendonca, Christine; Marselli, Lorella; Di Paola, Rosa; Abubakar, Zuroida; Mercuri, Luana; Alberico, Federica; Flex, Elisabetta; Ceron, Julian; Porta-de-la-Riva, Montserrat; Ludovico, Ornella; Carella, Massimo; Martinelli, Simone; Marchetti, Piero; Mazza, Tommaso; Froguel, Philippe; Trischitta, Vincenzo; Doria, Alessandro; Prudente, Sabrina Share Save Share Save Association of the 1q25 Diabetes-Specific Coronary Heart Disease Locus With Alterations of the γ-Glutamyl Cycle and Increased Methylglyoxal Levels in Endothelial CellsPipino, Caterina; Shah, Hetal; Prudente, Sabrina; Di Pietro, Natalia; Zeng, Lixia; Park, Kyoungmin; Trischitta, Vincenzo; Pennathur, Subramanian; Pandolfi, Assunta; Doria, Alessandro Share Save Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert PanelZhang, Haichen; Maloney, Kristin A.; Barbetti, Fabrizio; Greeley, Siri Atma W.; Kettunen, Jarno L. T.; Miranda, Jose P.; Mirshahi, Uyenlinh L.; Molnes, Janne; Murphy, Rinki; Naylor, Rochelle N.; Pakyz, Ruth E.; Philipson, Louis H.; Prudente, Sabrina; Tuomi, Tiinamaija; Udler, Miriam; Colclough, Kevin; Jeng, Linda; Pollin, Toni I. Share Save Osteoprotegerin Induces Endothelial Dysfunction and Is Associated with Vascular Complications In Type 2 DiabetesMaddaloni, Ernesto; Park, Kyoungmin; Di Guida, Michela; Coraggio, Lucia; Luordi, Cecilia; D'Onofrio, Luca; Baroni, Marco G.; Cavallo, Maria G.; D'Angelo, Paola; De Cosmo, Salvatore; Leonetti, Frida; Morano, Susanna; Morviducci, Lelio; Pozzilli, Paolo; Prudente, Sabrina; Pugliese, Giuseppe; Trischitta, Vincenzo; Holman, Rury R.; King, George L.; Buzzetti, Raffaella Share Save PPARA Polymorphism Influences the Cardiovascular Benefit of Fenofibrate in Type 2 Diabetes: Findings From ACCORD-LipidMorieri, Mario Luca; Shah, Hetal S.; Sjaarda, Jennifer; Lenzini, Petra A.; Campbell, Hannah; Motsinger-Reif, Alison A.; Gao, He; Lovato, Laura; Prudente, Sabrina; Pandolfi, Assunta; Pezzolesi, Marcus G.; Sigal, Ronald J.; Pare, Guillaume; Marcovina, Santica M.; Rotroff, Daniel M.; Patorno, Elisabetta; Mercuri, Luana; Trischitta, Vincenzo; Chew, Emily Y.; Kraft, Peter; Buse, John B.; Wagner, Michael J.; Cresci, Sharon; Gerstein, Hertzel C.; Ginsberg, Henry N.; Mychaleckyj, Josyf C.; Doria, Alessandro Share Save The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophyPadova, Giuseppa; Prudente, Sabrina; Vinciguerra, Federica; Sudano, Dora; Baratta, Roberto; Bellacchio, Emanuele; Trischitta, Vincenzo; Vallone, Antonino; Sciacca, Laura; Frittitta, Lucia Share Save A functional variant of the dimethylarginine dimethylaminohydrolase-2 gene is associated with myocardial infarction in type 2 diabetic patientsMannino, Gaia Chiara; Pezzilli, Serena; Averta, Carolina; Fuoco, Anastasia; Spiga, Rosangela; Mancuso, Elettra; Di Fatta, Concetta; Perticone, Francesco; Prudente, Sabrina; Trischitta, Vincenzo; Andreozzi, Francesco; Sesti, Giorgio Share Save Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencingDallali, Hamza; Pezzilli, Serena; Hechmi, Meriem; Sallem, Om Kalthoum; Elouej, Sahar; Jmel, Haifa; Ben Halima, Yosra; Chargui, Mariem; Gharbi, Mariem; Mercuri, Luana; Alberico, Federica; Mazza, Tommaso; Bahlous, Afaf; Ben Ahmed, Melika; Jamoussi, Henda; Abid, Abdelmajid; Trischitta, Vincenzo; Abdelhak, Sonia; Prudente, Sabrina; Kefi, Rym Share Save Malate Dehydrogenase 2 (MDH2) as a New Diabetogene Causing Hyperglycemia in Families with Multigenerational DiabetesJungtrakoon, Prapaporn; Pezzilli, Serena; Pezzilli, Antonella; Pannone, Luca; Flex, Elisabetta; Biagini, Tommaso; Buranasupkajorn, Patinut; Ludovico, Ornella; Mercuri, Luana; Hastings, Timothy; Di Paola, Rosa; Alberico, Federica; Mendonca, Christine; Ceron, Julian; Porta De la Riva, Montserrat; Marselli, Lorella; Mazza, Tommaso; Martinelli, Simone; Trischitta, Vincenzo; Doria, Alessandro; Prudente, Sabrina Share Save Share Save Insights From Molecular Characterization of Adult Patients of Families With Multigenerational DiabetesPezzilli, Serena; Ludovico, Ornella; Biagini, Tommaso; Mercuri, Luana; Alberico, Federica; Lauricella, Eleonora; Dallali, Hamza; Capocefalo, Daniele; Carella, Massimo; Miccinilli, Elide; Piscitelli, Pamela; Scarale, Maria Giovanna; Mazza, Tommaso; Trischitta, Vincenzo; Prudente, Sabrina Share Save Share Save Share Save The PPARγ2 P12A polymorphism is not associated with all-cause mortality in patients with type 2 diabetes mellitusPacilli, Antonio; Prudente, Sabrina; Copetti, Massimiliano; Fontana, Andrea; Mercuri, Luana; Bacci, Simonetta; Marucci, Antonella; Alberico, Federica; Viti, Raffaella; Palena, Antonio; Lamacchia, Olga; Cignarelli, Mauro; De Cosmo, Salvatore; Trischitta, Vincenzo Share Save 
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