Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines

Por Panza, Emanuele, Marini, Monica, Pecci, Alessandro, Giacopelli, Francesca, Bozzi, Valeria, Seri, Marco, Balduini, Carlo, Ravazzolo, Roberto
Publicado em 2008

Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling

Por Godino, Lea, Pompilii, Eva, D'Anna, Federica, Morselli-Labate, Antonio M, Nardi, Elena, Seri, Marco, Rizzo, Nicola, Pilu, Gianluigi, Turchetti, Daniela
Publicado no Eur J Hum Genet (2016)

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Por Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio
Publicado em 2013

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype

Por Pelleri, Maria Chiara, Cicchini, Elena, Locatelli, Chiara, Vitale, Lorenza, Caracausi, Maria, Piovesan, Allison, Rocca, Alessandro, Poletti, Giulia, Seri, Marco, Strippoli, Pierluigi, Cocchi, Guido
Publicado no Hum Mol Genet (2016)

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

Por Marconi, Caterina, Canobbio, Ilaria, Bozzi, Valeria, Pippucci, Tommaso, Simonetti, Giorgia, Melazzini, Federica, Angori, Silvia, Martinelli, Giovanni, Saglio, Giuseppe, Torti, Mauro, Pastan, Ira, Seri, Marco, Pecci, Alessandro
Publicado no J Hematol Oncol (2017)

Where Birt–Hogg–Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours

Por Pradella, Laura Maria, Lang, Martin, Kurelac, Ivana, Mariani, Elisa, Guerra, Flora, Zuntini, Roberta, Tallini, Giovanni, MacKay, Alan, Reis-Filho, Jorge S, Seri, Marco, Turchetti, Daniela, Gasparre, Giuseppe
Publicado em 2013

Messenger RNA processing is altered in autosomal dominant leukodystrophy(†)

Por Bartoletti-Stella, Anna, Gasparini, Laura, Giacomini, Caterina, Corrado, Patrizia, Terlizzi, Rossana, Giorgio, Elisa, Magini, Pamela, Seri, Marco, Baruzzi, Agostino, Parchi, Piero, Brusco, Alfredo, Cortelli, Pietro, Capellari, Sabina
Publicado no Hum Mol Genet (2015)

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

Por Magini, Pamela, Poscente, Monica, Ferrari, Simona, Vargiolu, Manuela, Bacchelli, Elena, Graziano, Claudio, Wischmeijer, Anita, Turchetti, Daniela, Malaspina, Elisabetta, Marchiani, Valentina, Cordelli, Duccio Maria, Franzoni, Emilio, Romeo, Giovanni, Seri, Marco
Publicado no Mol Cytogenet (2015)

Novel mutations in the USH1C gene in Usher syndrome patients

Por Aparisi, María José, García-García, Gema, Jaijo, Teresa, Rodrigo, Regina, Graziano, Claudio, Seri, Marco, Simsek, Tulay, Simsek, Enver, Bernal, Sara, Baiget, Montserrat, Pérez-Garrigues, Herminio, Aller, Elena, Millán, José María
Publicado em 2010

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

Por Marconi, Caterina, Brunamonti Binello, Paolo, Badiali, Giovanni, Caci, Emanuela, Cusano, Roberto, Garibaldi, Joseph, Pippucci, Tommaso, Merlini, Alberto, Marchetti, Claudio, Rhoden, Kerry J, Galietta, Luis J V, Lalatta, Faustina, Balbi, Paolo, Seri, Marco
Publicado em 2013

Epilepsy with auditory features: A heterogeneous clinico-molecular disease

Por Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Palombo, Flavia, Menghi, Veronica, D'Aurizio, Romina, Leta, Chiara, Stipa, Carlotta, Boero, Giovanni, d'Orsi, Giuseppe, Magi, Alberto, Scheffer, Ingrid, Seri, Marco, Tinuper, Paolo, Bisulli, Francesca
Publicado no Neurol Genet (2015)

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

Por Bottega, Roberta, Marconi, Caterina, Faleschini, Michela, Baj, Gabriele, Cagioni, Claudia, Pecci, Alessandro, Pippucci, Tommaso, Ramenghi, Ugo, Pardini, Simonetta, Ngu, Loretta, Baronci, Carlo, Kunishima, Shinji, Balduini, Carlo L., Seri, Marco, Savoia, Anna, Noris, Patrizia
Publicado no Blood (2015)

Prucalopride exerts neuroprotection in human enteric neurons

Por Bianco, Francesca, Bonora, Elena, Natarajan, Dipa, Vargiolu, Manuela, Thapar, Nikhil, Torresan, Francesco, Giancola, Fiorella, Boschetti, Elisa, Volta, Umberto, Bazzoli, Franco, Mazzoni, Maurizio, Seri, Marco, Clavenzani, Paolo, Stanghellini, Vincenzo, Sternini, Catia, De Giorgio, Roberto
Publicado no Am J Physiol Gastrointest Liver Physiol (2016)

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Por Magi, Alberto, Tattini, Lorenzo, Cifola, Ingrid, D’Aurizio, Romina, Benelli, Matteo, Mangano, Eleonora, Battaglia, Cristina, Bonora, Elena, Kurg, Ants, Seri, Marco, Magini, Pamela, Giusti, Betti, Romeo, Giovanni, Pippucci, Tommaso, Bellis, Gianluca De, Abbate, Rosanna, Gensini, Gian Franco
Publicado em 2013

Localization of a Gene for Nonsyndromic Renal Hypodysplasia to Chromosome 1p32-33

Por Sanna-Cherchi, Simone, Caridi, Gianluca, Weng, Patricia L., Dagnino, Monica, Seri, Marco, Konka, Anita, Somenzi, Danio, Carrea, Alba, Izzi, Claudia, Casu, Domenica, Allegri, Landino, Schmidt-Ott, Kai M., Barasch, Jonathan, Scolari, Francesco, Ravazzolo, Roberto, Ghiggeri, Gian Marco, Gharavi, Ali G.
Publicado em 2007

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

Por Pippucci, Tommaso, Maresca, Alessandra, Magini, Pamela, Cenacchi, Giovanna, Donadio, Vincenzo, Palombo, Flavia, Papa, Valentina, Incensi, Alex, Gasparre, Giuseppe, Valentino, Maria Lucia, Preziuso, Carmela, Pisano, Annalinda, Ragno, Michele, Liguori, Rocco, Giordano, Carla, Tonon, Caterina, Lodi, Raffaele, Parmeggiani, Antonia, Carelli, Valerio, Seri, Marco
Publicado no EMBO Mol Med (2015)

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Por Bonora, Elena, Graziano, Claudio, Minopoli, Fiorella, Bacchelli, Elena, Magini, Pamela, Diquigiovanni, Chiara, Lomartire, Silvia, Bianco, Francesca, Vargiolu, Manuela, Parchi, Piero, Marasco, Elena, Mantovani, Vilma, Rampoldi, Luca, Trudu, Matteo, Parmeggiani, Antonia, Battaglia, Agatino, Mazzone, Luigi, Tortora, Giada, Maestrini, Elena, Seri, Marco, Romeo, Giovanni
Publicado em 2014

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Por Bonora, Elena, Graziano, Claudio, Minopoli, Fiorella, Bacchelli, Elena, Magini, Pamela, Diquigiovanni, Chiara, Lomartire, Silvia, Bianco, Francesca, Vargiolu, Manuela, Parchi, Piero, Marasco, Elena, Mantovani, Vilma, Rampoldi, Luca, Trudu, Matteo, Parmeggiani, Antonia, Battaglia, Agatino, Mazzone, Luigi, Tortora, Giada, Maestrini, Elena, Seri, Marco, Romeo, Giovanni
Publicado no EMBO Mol Med (2014)

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Por Melazzini, Federica, Palombo, Flavia, Balduini, Alessandra, De Rocco, Daniela, Marconi, Caterina, Noris, Patrizia, Gnan, Chiara, Pippucci, Tommaso, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Doubek, Michael, Di Buduo, Christian A., Kozubik, Katerina Stano, Radova, Lenka, Loffredo, Giuseppe, Pospisilova, Sarka, Alfano, Caterina, Seri, Marco, Balduini, Carlo L., Pecci, Alessandro, Savoia, Anna
Publicado no Haematologica (2016)

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

Por Pippucci, Tommaso, Savoia, Anna, Perrotta, Silverio, Pujol-Moix, Núria, Noris, Patrizia, Castegnaro, Giovanni, Pecci, Alessandro, Gnan, Chiara, Punzo, Francesca, Marconi, Caterina, Gherardi, Samuele, Loffredo, Giuseppe, De Rocco, Daniela, Scianguetta, Saverio, Barozzi, Serena, Magini, Pamela, Bozzi, Valeria, Dezzani, Luca, Di Stazio, Mariateresa, Ferraro, Marcella, Perini, Giovanni, Seri, Marco, Balduini, Carlo L.
Publicado em 2011