Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols

Por Giuliani, Rossella, Antonucci, Ivana, Torrente, Isabella, Grammatico, Paola, Palka, Giandomenico, Stuppia, Liborio
Publicado em 2010

Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma

Por Parisi Pasquale, Persechino Severino, Paolino Maria Chiara, Nicita Francesco, Torrente Isabella, Bozzao Alessandro, Villa Maria Pia
Publicado em 2013-02-01

Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma

Por Parisi, Pasquale, Persechino, Severino, Paolino, Maria Chiara, Nicita, Francesco, Torrente, Isabella, Bozzao, Alessandro, Villa, Maria Pia
Publicado em 2013

Functional analysis of splicing mutations in exon 7 of NF1 gene

Por Bottillo, Irene, De Luca, Alessandro, Schirinzi, Annalisa, Guida, Valentina, Torrente, Isabella, Calvieri, Stefano, Gervasini, Cristina, Larizza, Lidia, Pizzuti, Antonio, Dallapiccola, Bruno
Publicado em 2007

DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

Por Magliozzi, Monia, Piane, Maria, Torrente, Isabella, Sinibaldi, Lorenzo, Rizzo, Giovanni, Savio, Camilla, Lulli, Patrizia, De Luca, Alessandro, Dallapiccola, Bruno, Chessa, Luciana
Publicado em 2006

ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression

Por Guarini, Anna, Marinelli, Marilisa, Tavolaro, Simona, Bellacchio, Emanuele, Magliozzi, Monia, Chiaretti, Sabina, De Propris, Maria Stefania, Peragine, Nadia, Santangelo, Simona, Paoloni, Francesca, Nanni, Mauro, Del Giudice, Ilaria, Mauro, Francesca Romana, Torrente, Isabella, Foà, Robin
Publicado em 2012

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Por Pinna, Valentina, Lanari, Valentina, Daniele, Paola, Consoli, Federica, Agolini, Emanuele, Margiotti, Katia, Bottillo, Irene, Torrente, Isabella, Bruselles, Alessandro, Fusilli, Caterina, Ficcadenti, Anna, Bargiacchi, Sara, Trevisson, Eva, Forzan, Monica, Giustini, Sandra, Leoni, Chiara, Zampino, Giuseppe, Cristina Digilio, Maria, Dallapiccola, Bruno, Clementi, Maurizio, Tartaglia, Marco, De Luca, Alessandro
Publicado no Eur J Hum Genet (2015)