A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome

od Cassina, Matteo, Cerqua, Cristina, Rossi, Silvia, Salviati, Leonardo, Martini, Alessandro, Clementi, Maurizio, Trevisson, Eva
Wydane w Eur J Hum Genet (2017)

A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus

od Zanetti, Alessandra, Tomanin, Rosella, Rampazzo, Angelica, Rigon, Chiara, Gasparotto, Nicoletta, Cassina, Matteo, Clementi, Maurizio, Scarpa, Maurizio
Wydane w JIMD Rep (2014)

ADPKD: Prototype of Cardiorenal Syndrome Type 4

od Virzì, Grazia Maria, Corradi, Valentina, Panagiotou, Anthi, Gastaldon, Fiorella, Cruz, Dinna N., de Cal, Massimo, Clementi, Maurizio, Ronco, Claudio
Wydane 2010

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

od Toldo, Irene, Bruson, Alice, Casarin, Alberto, Salviati, Leonardo, Boniver, Clementina, Sartori, Stefano, Montagna, Pasquale, Battistella, Pier Antonio, Clementi, Maurizio
Wydane 2011

Comorbidity between headache and epilepsy in a pediatric headache center

od Toldo, Irene, Perissinotto, Egle, Menegazzo, Francesca, Boniver, Clementina, Sartori, Stefano, Salviati, Leonardo, Clementi, Maurizio, Montagna, Pasquale, Battistella, Pier Antonio
Wydane 2010

A new clinical tool for assessing numerical abilities in neurological diseases: numerical activities of daily living

od Semenza, Carlo, Meneghello, Francesca, Arcara, Giorgio, Burgio, Francesca, Gnoato, Francesca, Facchini, Silvia, Benavides-Varela, Silvia, Clementi, Maurizio, Butterworth, Brian
Wydane 2014

Advances in the Pathogenesis of Cardiorenal Syndrome Type 3

od Clementi, Anna, Virzì, Grazia Maria, Brocca, Alessandra, de Cal, Massimo, Pastori, Silvia, Clementi, Maurizio, Granata, Antonio, Vescovo, Giorgio, Ronco, Claudio
Wydane w Oxid Med Cell Longev (2015)

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

od Trevisson, Eva, Morbidoni, Valeria, Forzan, Monica, Daolio, Cecilia, Fumini, Valentina, Parrozzani, Raffaele, Cassina, Matteo, Midena, Edoardo, Salviati, Leonardo, Clementi, Maurizio
Wydane w Mol Genet Genomic Med (2019)

Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations

od Cassina, Matteo, Frizziero, Luisa, Opocher, Enrico, Parrozzani, Raffaele, Sorrentino, Ugo, Viscardi, Elisabetta, Miglionico, Giacomo, Midena, Edoardo, Clementi, Maurizio, Trevisson, Eva
Wydane w Cancers (Basel) (2019)

High‐Resolution Melt as a Screening Method in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

od Virzì, Grazia Maria, Bruson, Alice, Corradi, Valentina, Gastaldon, Fiorella, de Cal, Massimo, Donà, Marta, Cruz, Dinna N., Clementi, Maurizio, Ronco, Claudio
Wydane w J Clin Lab Anal (2014)

NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

od Riva, Paola, Corrado, Lucia, Natacci, Federica, Castorina, Pierangela, Wu, Bai-Li, Schneider, Gretchen H., Clementi, Maurizio, Tenconi, Romano, Korf, Bruce R., Larizza, Lidia
Wydane 2000

Paroxetine and fluoxetine in pregnancy: a prospective, multicentre, controlled, observational study

od Diav-Citrin, Orna, Shechtman, Svetlana, Weinbaum, Dafna, Wajnberg, Rebecka, Avgil, Meytal, Di Gianantonio, Elena, Clementi, Maurizio, Weber-Schoendorfer, Corinna, Schaefer, Christof, Ornoy, Asher
Wydane 2008

Catechol-O-methyltransferase genotype modifies executive functioning and prefrontal functional connectivity in women with anorexia nervosa

od Favaro, Angela, Clementi, Maurizio, Manara, Renzo, Bosello, Romina, Forzan, Monica, Bruson, Alice, Tenconi, Elena, Degortes, Daniela, Titton, Francesca, Di Salle, Francesco, Santonastaso, Paolo
Wydane 2013

Visual outcome of a cohort of children with neurofibromatosis type 1 and optic pathway glioma followed by a pediatric neuro-oncology program

od Via, Paola Dalla, Opocher, Enrico, Pinello, Maria Luisa, Calderone, Milena, Viscardi, Elisabetta, Clementi, Maurizio, Battistella, Pier Antonio, Laverda, Anna Maria, Dalt, Liviana Da, Perilongo, Giorgio
Wydane 2007

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

od Morbidoni, Valeria, Baschiera, Elisa, Forzan, Monica, Fumini, Valentina, Ali, Dario Seif, Giorgi, Gianpietro, Buson, Lisa, Desbats, Maria Andrea, Cassina, Matteo, Clementi, Maurizio, Salviati, Leonardo, Trevisson, Eva
Wydane w Cancers (Basel) (2021)

The Role of Cell-Free Plasma DNA in Peritoneal Dialysis Patients with Peritonitis

od Virzì, Grazia Maria, Manani, Sabrina Milan, Cantaluppi, Vincenzo, Brocca, Alessandra, de Cal, Massimo, Tantillo, Ilaria, Mason, Giacomo, Ramponi, Francesco, Berti, Sonia, Crepaldi, Carlo, Clementi, Maurizio, Ronco, Claudio
Wydane w Perit Dial Int (2015)

Advances in Alport syndrome diagnosis using next-generation sequencing

od Artuso, Rosangela, Fallerini, Chiara, Dosa, Laura, Scionti, Francesca, Clementi, Maurizio, Garosi, Guido, Massella, Laura, Epistolato, Maria Carmela, Mancini, Roberta, Mari, Francesca, Longo, Ilaria, Ariani, Francesca, Renieri, Alessandra, Bruttini, Mirella
Wydane 2012

Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

od Evans, D. Gareth R., Kallionpää, Roope A., Clementi, Maurizio, Trevisson, Eva, Mautner, Victor-Felix, Howell, Sacha J., Lewis, Lauren, Zehou, Ouidad, Peltonen, Sirkku, Brunello, Antonella, Harkness, Elaine F., Wolkenstein, Pierre, Peltonen, Juha
Wydane w Genet Med (2019)

Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

od Evans, D. Gareth R., Kallionpää, Roope A., Clementi, Maurizio, Trevisson, Eva, Mautner, Victor-Felix, Howell, Sacha J., Lewis, Lauren, Zehou, Ouidad, Peltonen, Sirkku, Brunello, Antonella, Harkness, Elaine F., Wolkenstein, Pierre, Peltonen, Juha
Wydane w Genet Med (2019)

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

od Casarin, Alberto, Giorgi, Gianpietro, Pertegato, Vanessa, Siviero, Roberta, Cerqua, Cristina, Doimo, Mara, Basso, Giuseppe, Sacconi, Sabrina, Cassina, Matteo, Rizzuto, Rosario, Brosel, Sonja, M Davidson, Mercy, DiMauro, Salvatore, Schon, Eric A, Clementi, Maurizio, Trevisson, Eva, Salviati, Leonardo
Wydane 2012