Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

Por Conte, Chiara, D'Apice, Maria Rosaria, Rinaldi, Fabrizio, Gambardella, Stefano, Sangiuolo, Federica, Novelli, Giuseppe
Publicado em 2011

All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype

Por Pellegrini, Camilla, Columbaro, Marta, Capanni, Cristina, D'Apice, Maria Rosaria, Cavallo, Carola, Murdocca, Michela, Lattanzi, Giovanna, Squarzoni, Stefano
Publicado no Oncotarget (2015)

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

Por D'Apice, Maria Rosaria, Gambardella, Stefano, Bengala, Mario, Russo, Silvia, Nardone, Anna Maria, Lucidi, Vincenzina, Sangiuolo, Federica, Novelli, Giuseppe
Publicado em 2004

Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

Por Garg, Abhimanyu, Subramanyam, Lalitha, Agarwal, Anil K., Simha, Vinaya, Levine, Benjamin, D'Apice, Maria Rosaria, Novelli, Giuseppe, Crow, Yanick
Publicado em 2009

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution

Por Capanni, Cristina, Squarzoni, Stefano, Cenni, Vittoria, D’Apice, Maria Rosaria, Gambineri, Alessandra, Novelli, Giuseppe, Wehnert, Manfred, Pasquali, Renato, Maraldi, Nadir M., Lattanzi, Giovanna
Publicado em 2012

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

Por Botta, Annalisa, Rossi, Giulia, Marcaurelio, Marzia, Fontana, Luana, D'Apice, Maria Rosaria, Brancati, Francesco, Massa, Roberto, G Monckton, Darren, Sangiuolo, Federica, Novelli, Giuseppe
Publicado no Eur J Hum Genet (2017)

Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment

Por Camozzi, Daria, D’Apice, Maria Rosaria, Schena, Elisa, Cenni, Vittoria, Columbaro, Marta, Capanni, Cristina, Maraldi, Nadir M., Squarzoni, Stefano, Ortolani, Michela, Novelli, Giuseppe, Lattanzi, Giovanna
Publicado em 2012

Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins

Por Evangelisti, Camilla, Bernasconi, Pia, Cavalcante, Paola, Cappelletti, Cristina, D'Apice, Maria Rosaria, Sbraccia, Paolo, Novelli, Giuseppe, Prencipe, Sabino, Lemma, Silvia, Baldini, Nicola, Avnet, Sofia, Squarzoni, Stefano, Martelli, Alberto M., Lattanzi, Giovanna
Publicado no Oncotarget (2015)

Rapamycin treatment of Mandibuloacral Dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics

Por Cenni, Vittoria, Capanni, Cristina, Mattioli, Elisabetta, Columbaro, Marta, Wehnert, Manfred, Ortolani, Michela, Fini, Milena, Novelli, Giuseppe, Bertacchini, Jessika, Maraldi, Nadir M., Marmiroli, Sandra, D'Apice, Maria Rosaria, Prencipe, Sabino, Squarzoni, Stefano, Lattanzi, Giovanna
Publicado no Aging (Albany NY) (2014)

The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence

Por Burla, Romina, Carcuro, Mariateresa, Torre, Mattia La, Fratini, Federica, Crescenzi, Marco, D'Apice, Maria Rosaria, Spitalieri, Paola, Raffa, Grazia Daniela, Astrologo, Letizia, Lattanzi, Giovanna, Cundari, Enrico, Raimondo, Domenico, Biroccio, Annamaria, Gatti, Maurizio, Saggio, Isabella
Publicado no Open Biol (2016)

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Por Novelli, Giuseppe, Muchir, Antoine, Sangiuolo, Federica, Helbling-Leclerc, Anne, D’Apice, Maria Rosaria, Massart, Catherine, Capon, Francesca, Sbraccia, Paolo, Federici, Massimo, Lauro, Renato, Tudisco, Cosimo, Pallotta, Rosanna, Scarano, Gioacchino, Dallapiccola, Bruno, Merlini, Luciano, Bonne, Gisèle
Publicado em 2002

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Por D’Apice, Maria Rosaria, Novelli, Antonio, di Masi, Alessandra, Biancolella, Michela, Antoccia, Antonio, Gullotta, Francesca, Licata, Norma, Minella, Daniela, Testa, Barbara, Nardone, Anna Maria, Palmieri, Giampiero, Calabrese, Emma, Biancone, Livia, Tanzarella, Caterina, Frontali, Marina, Sangiuolo, Federica, Novelli, Giuseppe, Pallone, Francesco
Publicado no BMC Med Genet (2015)

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Por Ruggieri, Alessandra, Brancati, Francesco, Zanotti, Simona, Maggi, Lorenzo, Pasanisi, Maria Barbara, Saredi, Simona, Terracciano, Chiara, Antozzi, Carlo, D′Apice, Maria Rosaria, Sangiuolo, Federica, Novelli, Giuseppe, Marshall, Christian R., Scherer, Stephen W., Morandi, Lucia, Federici, Luca, Massa, Roberto, Mora, Marina, Minassian, Berge A.
Publicado no Acta Neuropathol Commun (2015)

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Por Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Jr., Milan, Claustres, Mireille, Cutting, Garry R.
Publicado em 2004

The empowerment of translational research: lessons from laminopathies

Por Benedetti, Sara, Bernasconi, Pia, Bertini, Enrico, Biagini, Elena, Boriani, Giuseppe, Capanni, Cristina, Carboni, Nicola, Cenacchi, Giovanna, Columbaro, Marta, D'Adamo, Monica, D’Amico, Adele, D’Apice, Maria Rosaria, Fontana, Marianna, Gambineri, Alessandra, Lattanzi, Giovanna, Liguori, Rocco, Maraldi, Nadir M, Mazzanti, Laura, Mercuri, Eugenio, Mongini, Tiziana, Morandi, Lucia O, Neri, Iria, Nigro, Giovanni, Novelli, Giuseppe, Ortolani, Michela, Pasquali, Renato, Pini, Antonella, Petrini, Stefania, Politano, Luisa, Previtali, Stefano, Pucci, Lisa, Rapezzi, Claudio, Ricci, Giulia, Rodolico, Carmelo, Sbraccia, Paolo, Scarano, Emanuela, Siciliano, Gabriele, Squarzoni, Stefano, Toscano, Antonio, Vercelli, Liliana, Ziacchi, Matteo
Publicado em 2012