Thyroid hormones increase collagen I and cartilage oligomeric matrix protein (COMP) expression in vitro human tenocytes

Por Berardi, Anna C., Oliva, Francesco, Berardocco, Martina, la Rovere, Marina, Accorsi, Patrizia, Maffulli, Nicola
Publicado no Muscles Ligaments Tendons J (2014)

RPGRIP1L mutations are mainly associated with the cerebellorenal phenotype of Joubert Syndrome Related Disorders

Por Brancati, Francesco, Travaglini, Lorena, Zablocka, Dominika, Boltshauser, Eugen, Accorsi, Patrizia, Montagna, Giorgia, Silhavy, Jennifer L., Barrano, Giuseppe, Bertini, Enrico, Emma, Francesco, Rigoli, Luciana, Dallapiccola, Bruno, Gleeson, Joseph G, Valente, Enza Maria
Publicado em 2008

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

Por Giardino, Daniela, Vignoli, Aglaia, Ballarati, Lucia, Recalcati, Maria Paola, Russo, Silvia, Camporeale, Nicole, Marchi, Margherita, Finelli, Palma, Accorsi, Patrizia, Giordano, Lucio, La Briola, Francesca, Chiesa, Valentina, Canevini, Maria Paola, Larizza, Lidia
Publicado em 2010

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Por Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.
Publicado em 2013

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Por Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria
Publicado no Hum Genet (2014)