Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity
Dassie, Francesca, Favaretto, Francesca, Bettini, Silvia, Parolin, Matteo, Valenti, Marina, Reschke, Felix, Danne, Thomas, Vettor, Roberto, Milan, Gabriella, Maffei, Pietro
Published in Endocrine (01.03.2021)
Published in Endocrine (01.03.2021)
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Consensus clinical management guidelines for Alström syndrome
Tahani, Natascia, Maffei, Pietro, Dollfus, Hélène, Paisey, Richard, Valverde, Diana, Milan, Gabriella, Han, Joan C, Favaretto, Francesca, Madathil, Shyam C, Dawson, Charlotte, Armstrong, Matthew J, Warfield, Adrian T, Düzenli, Selma, Francomano, Clair A, Gunay-Aygun, Meral, Dassie, Francesca, Marion, Vincent, Valenti, Marina, Leeson-Beevers, Kerry, Chivers, Ann, Steeds, Richard, Barrett, Timothy, Geberhiwot, Tarekegn
Published in Orphanet journal of rare diseases (21.09.2020)
Published in Orphanet journal of rare diseases (21.09.2020)
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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
Weisschuh, Nicole, Mayer, Anja K, Strom, Tim M, Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G, Hamel, Christian P, Heckenlively, John R, Jacobson, Samuel G, Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M, Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G, Wissinger, Bernd
Published in PloS one (14.01.2016)
Published in PloS one (14.01.2016)
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GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance
Favaretto, Francesca, Milan, Gabriella, Collin, Gayle B, Marshall, Jan D, Stasi, Fabio, Maffei, Pietro, Vettor, Roberto, Naggert, Jürgen K
Published in PloS one (09.10.2014)
Published in PloS one (09.10.2014)
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Journal Article
Practical Considerations for the Management of Cushing's Disease and COVID-19: A Case Report
Beretta, Federica, Dassie, Francesca, Parolin, Matteo, Boscari, Federico, Barbot, Mattia, Busetto, Luca, Mioni, Roberto, De Carlo, Eugenio, Scaroni, Carla, Fallo, Francesco, Vettor, Roberto, Maffei, Pietro
Published in Frontiers in endocrinology (Lausanne) (11.09.2020)
Published in Frontiers in endocrinology (Lausanne) (11.09.2020)
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Journal Article
Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome
Reschke, Felix, Rohayem, Julia, Maffei, Pietro, Dassie, Francesca, Schwandt, Anke, de Beaufort, Carine, Toni, Sonia, Szypowska, Agnieszka, Cardona-Hernandez, Roque, Datz, Nicolin, Klee, Katharina, Danne, Thomas
Published in Endocrine (01.03.2021)
Published in Endocrine (01.03.2021)
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Journal Article
The Endothelium in Acromegaly
Maffei, Pietro, Dassie, Francesca, Wennberg, Alexandra, Parolin, Matteo, Vettor, Roberto
Published in Frontiers in endocrinology (Lausanne) (24.07.2019)
Published in Frontiers in endocrinology (Lausanne) (24.07.2019)
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Journal Article
Cochlear Implants in Alström Syndrome
Gheller, Flavia, Gallo, Samanta, Trevisi, Patrizia, Caserta, Ezio, Dassie, Francesca, Maffei, Pietro, Bovo, Roberto
Published in Annals of otology, rhinology & laryngology (01.08.2020)
Published in Annals of otology, rhinology & laryngology (01.08.2020)
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Defining renal phenotype in Alström syndrome
Baig, Shanat, Paisey, Richard, Dawson, Charlotte, Barrett, Timothy, Maffei, Pietro, Hodson, James, Rambhatla, Srinivasa Bhargav, Chauhan, Priyesh, Bolton, Shaun, Dassie, Francesca, Francomano, Clair, Marshall, Robert P, Belal, Mohammed, Skordilis, Kassiani, Hayer, Manvir, Price, Anna M, Cramb, Robert, Edwards, Nicola, Steeds, Richard P, Geberhiwot, Tarekegn
Published in Nephrology, dialysis, transplantation (01.06.2020)
Published in Nephrology, dialysis, transplantation (01.06.2020)
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Journal Article
Alstrom Syndrome: Genetics and Clinical Overview
Marshall, Jan D, Maffei, Pietro, Collin, Gayle B, Naggert, Jürgen K
Published in Current genomics (01.05.2011)
Published in Current genomics (01.05.2011)
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Journal Article
Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome
Marozio, Luca, Dassie, Francesca, Bertschy, Gianluca, Canuto, Emilie M., Milan, Gabriella, Cosma, Stefano, Maffei, Pietro, Benedetto, Chiara
Published in Frontiers in genetics (03.10.2022)
Published in Frontiers in genetics (03.10.2022)
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Journal Article
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3 -Associated Autosomal Recessive Achromatopsia
Kohl, Susanne, Baumann, Britta, Dassie, Francesca, Mayer, Anja K, Solaki, Maria, Reuter, Peggy, Kühlewein, Laura, Wissinger, Bernd, Maffei, Pietro
Published in International journal of molecular sciences (22.07.2021)
Published in International journal of molecular sciences (22.07.2021)
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Psychological complications in patients with acromegaly: relationships with sex, arthropathy, and quality of life
Cangiano, Biagio, Giusti, Emanuele, Premoli, Caterina, Soranna, Davide, Vitale, Giovanni, Grottoli, Silvia, Cambria, Valeria, Mantovani, Giovanna, Mungari, Roberta, Maffei, Pietro, Dassie, Francesca, Giampietro, Antonella, Chiloiro, Sabrina, Tanda, Maria Laura, Ippolito, Silvia, Cannavò, Salvatore, Ragonese, Marta, Zambon, Antonella, Persani, Luca, Fatti, Letizia Maria, Scacchi, Massimo
Published in Endocrine (01.09.2022)
Published in Endocrine (01.09.2022)
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Journal Article
Use of IDeS Method to Design an Innovative HYICE Sportscar
Galiè, Giulio, Cappelli, Michele, Maffei, Pietro, Robusti, Matteo, Vasileski, Igor, Frizziero, Leonardo
Published in Inventions (Basel) (01.06.2023)
Published in Inventions (Basel) (01.06.2023)
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Journal Article
The role of the dentist and orthodontist in recognizing oro-facial manifestations of acromegaly: a questionnaire-based study
Preo, Giorgia, De Stefani, Alberto, Dassie, Francesca, Wennberg, Alexandra, Vettor, Roberto, Maffei, Pietro, Gracco, Antonio, Bruno, Giovanni
Published in Pituitary (01.02.2022)
Published in Pituitary (01.02.2022)
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Journal Article
The Italian registry for patients with Prader-Willi syndrome
Salvatore, Marco, Torreri, Paola, Grugni, Graziano, Rocchetti, Adele, Maghnie, Mohamad, Patti, Giuseppa, Crinò, Antonino, Elia, Maurizio, Greco, Donatella, Romano, Corrado, Franzese, Adriana, Mozzillo, Enza, Colao, Annamaria, Pugliese, Gabriella, Pagotto, Uberto, Lo Preiato, Valentina, Scarano, Emanuela, Schiavariello, Concetta, Tornese, Gianluca, Fintini, Danilo, Bocchini, Sarah, Osimani, Sara, De Sanctis, Luisa, Sacco, Michele, Rutigliano, Irene, Delvecchio, Maurizio, Faienza, Maria Felicia, Wasniewska, Malgorzata, Corica, Domenico, Stagi, Stefano, Guazzarotti, Laura, Maffei, Pietro, Dassie, Francesca, Taruscio, Domenica
Published in Orphanet journal of rare diseases (15.02.2023)
Published in Orphanet journal of rare diseases (15.02.2023)
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Journal Article
Italian Guidelines for the Management of Prolactinomas
Cozzi, Renato, Simona Auriemma, Renata, De Menis, Ernesto, Esposito, Felice, Ferrante, Emanuele, Iatì, Giuseppe, Mazzatenta, Diego, Poggi, Maurizio, Rudà, Roberta, Tortora, Fabio, Cruciani, Fabio, Mitrova, Zuzana, Saulle, Rosella, Vecchi, Simona, Basile, Michele, Cappabianca, Paolo, Paoletta, Agostino, Papini, Enrico, Persichetti, Agnese, Samperi, Irene, Scoppola, Alessandro, Bozzao, Alessandro, Caputo, Marco, Doglietto, Francesco, Ferraù, Francesco, Lania, Andrea Gerardo, Laureti, Stefano, Lello, Stefano, Locatelli, Davide, Maffei, Pietro, Minniti, Giuseppe, Peri, Alessandro, Ruini, Chiara, Settanni, Fabio, Silvani, Antonio, Veronese, Nadia, Grimaldi, Franco, Attanasio, Roberto
Published in Endocrine, metabolic & immune disorders drug targets (01.01.2023)
Published in Endocrine, metabolic & immune disorders drug targets (01.01.2023)
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Journal Article
Effects of octreotide exposure during pregnancy in acromegaly
Maffei, Pietro, Tamagno, Gianluca, Nardelli, Giovanni Battista, Videau, Catherine, Menegazzo, Carla, Milan, Gabriella, Calcagno, Alessandra, Martini, Chiara, Vettor, Roberto, Epelbaum, Jacques, Sicolo, Nicola
Published in Clinical endocrinology (Oxford) (01.05.2010)
Published in Clinical endocrinology (Oxford) (01.05.2010)
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