Alström Syndrome: Genetics and Clinical Overview

Por Marshall, Jan D, Maffei, Pietro, Collin, Gayle B, Naggert, Jürgen K
Publicado em 2011

Syndromic obesity: clinical implications of a correct diagnosis

Por Milani, Donatella, Cerutti, Marta, Pezzani, Lidia, Maffei, Pietro, Milan, Gabriella, Esposito, Susanna
Publicado no Ital J Pediatr (2014)

Clinical utility gene card for: Alström syndrome

Por Marshall, Jan D, Maffei, Pietro, Beck, Sebastian, Barrett, Timothy G, Paisey, Richard B
Publicado em 2011

The case: Familial occurrence of retinitis pigmentosa, deafness and renal involvement

Por Izzi, Claudia, Maffei, Pietro, Milan, Gabriella, Tardanico, Regina, Foini, Paolo, Marshall, Jan, Scolari, Francesco
Publicado em 2011

Clinical utility gene card for: Alström Syndrome - update 2013

Por Marshall, Jan D, Maffei, Pietro, Beck, Sebastian, Barrett, Timothy G, Paisey, Richard, Naggert, Jürgen K
Publicado em 2013

Alström Syndrome: Cardiac Magnetic Resonance findings

Por Corbetti, Francesco, Razzolini, Renato, Bettini, Vera, Marshall, Jan D, Naggert, Jurgen, Tona, Francesco, Milan, Gabriella, Maffei, Pietro
Publicado em 2012

The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway

Por Collin, Gayle B., Marshall, Jan D., King, Benjamin L., Milan, Gabriella, Maffei, Pietro, Jagger, Daniel J., Naggert, Jürgen K.
Publicado em 2012

GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1(GT/GT), a Mouse Model for Obesity and Insulin Resistance

Por Favaretto, Francesca, Milan, Gabriella, Collin, Gayle B., Marshall, Jan D., Stasi, Fabio, Maffei, Pietro, Vettor, Roberto, Naggert, Jürgen K.
Publicado em 2014

Protection From Clinical Peripheral Sensory Neuropathy in Alström Syndrome in Contrast to Early-Onset Type 2 Diabetes

Por Paisey, Richard B., Paisey, Rosamund M., Thomson, Mary P., Bower, Lynne, Maffei, Pietro, Shield, Julian P.H., Barnett, Sue, Marshall, Jan D.
Publicado em 2009

Brain involvement in Alström syndrome

Por Citton, Valentina, Favaro, Angela, Bettini, Vera, Gabrieli, Joseph, Milan, Gabriella, Greggio, Nella Augusta, Marshall, Jan D, Naggert, Jürgen K, Manara, Renzo, Maffei, Pietro
Publicado em 2013

Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome

Por Paisey, Richard B., Smith, Jamie, Carey, Catherine, Barrett, Timothy, Campbell, Fiona, Maffei, Pietro, Marshall, Jan D., Paisey, Christopher, Steeds, Richard P., Edwards, Nicola C., Bunce, Susan, Geberhiwot, Tarekegn
Publicado no J Clin Endocrinol Metab (2015)

Alström Syndrome: Mutation spectrum of ALMS1

Por Marshall, Jan D., Muller, Jean, Collin, Gayle B., Milan, Gabriella, Kingsmore, Stephen F., Dinwiddie, Darrell, Farrow, Emily G., Miller, Neil A., Favaretto, Francesca, Maffei, Pietro, Dollfus, Hélène, Vettor, Roberto, Naggert, Jürgen K.
Publicado no Hum Mutat (2015)

The progression from obesity to type 2 diabetes in Alström syndrome

Por Bettini, Vera, Maffei, Pietro, Pagano, Claudio, Romano, Sara, Milan, Gabriella, Favaretto, Francesca, Marshall, Jan D., Paisey, Richard, Scolari, Francesco, Greggio, Nella A., Tosetto, Ilaria, Naggert, Jϋrgen K., Sicolo, Nicola, Vettor, Roberto
Publicado em 2011

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

Por Farmer, Amy, Aymé, Ségolène, de Heredia, Miguel Lopez, Maffei, Pietro, McCafferty, Susan, Młynarski, Wojciech, Nunes, Virginia, Parkinson, Kay, Paquis-Flucklinger, Véronique, Rohayem, Julia, Sinnott, Richard, Tillmann, Vallo, Tranebjærg, Lisbeth, Barrett, Timothy G
Publicado em 2013

ALMS1-Deficient Fibroblasts Over-Express Extra-Cellular Matrix Components, Display Cell Cycle Delay and Are Resistant to Apoptosis

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

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

Por 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
Publicado no PLoS One (2016)