The Endothelium in Acromegaly

by Pietro Maffei, Francesca Dassie, Alexandra Wennberg, Matteo Parolin, Roberto Vettor
Published 2019-07-01

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with <i>CNGA3</i>-Associated Autosomal Recessive Achromatopsia

by Susanne Kohl, Britta Baumann, Francesca Dassie, Anja K. Mayer, Maria Solaki, Peggy Reuter, Laura Kühlewein, Bernd Wissinger, Pietro Maffei
Published 2021-07-01

The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.

by Gayle B Collin, Jan D Marshall, Benjamin L King, Gabriella Milan, Pietro Maffei, Daniel J Jagger, Jürgen K Naggert
Published 2012-01-01

GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance.

by Francesca Favaretto, Gabriella Milan, Gayle B Collin, Jan D Marshall, Fabio Stasi, Pietro Maffei, Roberto Vettor, Jürgen K Naggert
Published 2014-01-01

Practical Considerations for the Management of Cushing's Disease and COVID-19: A Case Report

by Federica Beretta, Francesca Dassie, Matteo Parolin, Federico Boscari, Mattia Barbot, Luca Busetto, Roberto Mioni, Eugenio De Carlo, Carla Scaroni, Francesco Fallo, Roberto Vettor, Pietro Maffei
Published 2020-09-01

Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome

by Silvia Bettini, Giancarlo Bombonato, Francesca Dassie, Francesca Favaretto, Luca Piffer, Paola Bizzotto, Luca Busetto, Liliana Chemello, Marco Senzolo, Carlo Merkel, Paolo Angeli, Roberto Vettor, Gabriella Milan, Pietro Maffei
Published 2021-04-01

ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.

by Elisabetta Zulato, Francesca Favaretto, Caterina Veronese, Stefano Campanaro, Jan D Marshall, Sara Romano, Anna Cabrelle, Gayle B Collin, Barbara Zavan, Anna S Belloni, Enrica Rampazzo, Jürgen K Naggert, Giovanni Abatangelo, Nicola Sicolo, Pietro Maffei, Gabriella Milan, Roberto Vettor
Published 2011-04-01

Consensus clinical management guidelines for Alström syndrome

by Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett, Tarekegn Geberhiwot
Published 2020-09-01

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

by Nicole Weisschuh, Anja K Mayer, Tim M Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G Birch, Christian P Hamel, John R Heckenlively, Samuel G Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G Weleber, Bernd Wissinger
Published 2016-01-01