Identification and validation of loss of function variants in clinical contexts

le Lescai, Francesco, Marasco, Elena, Bacchelli, Chiara, Stanier, Philip, Mantovani, Vilma, Beales, Philip
Foilsithe 2014

Maternal Supplementation With Krill Oil During Breastfeeding and Long-Chain Polyunsaturated Fatty Acids (LCPUFAs) Composition of Human Milk: A Feasibility Study

le Cimatti, Anna Giulia, Martini, Silvia, Munarini, Alessandra, Zioutas, Maximilano, Vitali, Francesca, Aceti, Arianna, Mantovani, Vilma, Faldella, Giacomo, Corvaglia, Luigi
Foilsithe in Front Pediatr (2018)

Double Heterozygous Mutations Involving Both HNF1A/MODY3 and HNF4A/MODY1 Genes: A case report

le Forlani, Gabriele, Zucchini, Stefano, Di Rocco, Antonio, Di Luzio, Raffaella, Scipione, Mirella, Marasco, Elena, Romeo, Giovanni, Marchesini, Giulio, Mantovani, Vilma
Foilsithe 2010

Single step multiple genotyping by MALDI-TOF mass spectrometry, for evaluation of minor histocompatibility antigens in patients submitted to allogeneic stem cell transplantation fr...

le Cattina, Federica, Bernardi, Simona, Mantovani, Vilma, Toffoletti, Eleonora, Santoro, Alessandra, Pastore, Domenico, Martino, Bruno, Console, Giuseppe, Martinelli, Giovanni, Malagola, Michele
Foilsithe in Hematol Rep (2017)

TRPV1 Channels Regulate Cortical Excitability in Humans

le Mori, Francesco, Ribolsi, Michele, Kusayanagi, Hajime, Monteleone, Fabrizia, Mantovani, Vilma, Buttari, Fabio, Marasco, Elena, Bernardi, Giorgio, Maccarrone, Mauro, Centonze, Diego
Foilsithe in J Neurosci (2012)

Genetic distinctions between autoimmune hepatitis in Italy and North America

le Muratori, Paolo, Czaja, Albert J., Muratori, Luigi, Pappas, Georgios, Maccariello, Silvana, Cassani, Fabio, Granito, Alessandro, Ferrari, Rodolfo, Mantovani, Vilma, Lenzi, Marco, Bianchi, Francesco B.
Foilsithe in World J Gastroenterol (2005)

5-Methyltetrahydrofolate Administration Is Associated with Prolonged Survival and Reduced Inflammation in ESRD Patients

le Cianciolo, Giuseppe, La Manna, Gaetano, Colì, Luigi, Donati, Gabriele, D'Addio, Francesca, Persici, Elisa, Comai, Giorgia, Wratten, Marylou, Dormi, Ada, Mantovani, Vilma, Grossi, Gabriele, Stefoni, Sergio
Foilsithe 2008

Space/Population and Time/Age in DNA methylation variability in humans: a study on IGF2/H19 locus in different Italian populations and in mono- and di-zygotic twins of different ag...

le Pirazzini, Chiara, Giuliani, Cristina, Bacalini, Maria Giulia, Boattini, Alessio, Capri, Miriam, Fontanesi, Elisa, Marasco, Elena, Mantovani, Vilma, Pierini, Michela, Pini, Elisa, Luiselli, Donata, Franceschi, Claudio, Garagnani, Paolo
Foilsithe 2012

Glutathione transferase-A2 S112T polymorphism predicts survival, transplant-related mortality, busulfan and bilirubin blood levels after allogeneic stem cell transplantation

le Bonifazi, Francesca, Storci, Gianluca, Bandini, Giuseppe, Marasco, Elena, Dan, Elisa, Zani, Elena, Albani, Fiorenzo, Bertoni, Sara, Bontadini, Andrea, De Carolis, Sabrina, Sapienza, Maria Rosaria, Rizzi, Simonetta, Motta, Maria Rosa, Ferioli, Martina, Garagnani, Paolo, Cavo, Michele, Mantovani, Vilma, Bonafè, Massimiliano
Foilsithe 2014

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

le 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
Foilsithe 2014

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

le 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
Foilsithe in EMBO Mol Med (2014)

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies

le La Morgia, Chiara, Ross-Cisneros, Fred N., Sadun, Alfredo A., Hannibal, Jens, Munarini, Alessandra, Mantovani, Vilma, Barboni, Piero, Cantalupo, Gaetano, Tozer, Kevin R., Sancisi, Elisa, Salomao, Solange R., Moraes, Milton N., Moraes-Filho, Milton N., Heegaard, Steffen, Milea, Dan, Kjer, Poul, Montagna, Pasquale, Carelli, Valerio
Foilsithe 2010

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Cha...

le Mantovani, Vilma, Bin, Sofia, Graziano, Claudio, Capelli, Irene, Minardi, Raffaella, Aiello, Valeria, Ambrosini, Enrico, Cristalli, Carlotta Pia, Mattiaccio, Alessandro, Pariali, Milena, De Fanti, Sara, Faletra, Flavio, Grosso, Enrico, Cantone, Rachele, Mancini, Elena, Mencarelli, Francesca, Pasini, Andrea, Wischmeijer, Anita, Sciascia, Nicola, Seri, Marco, La Manna, Gaetano
Foilsithe in Front Genet (2020)

Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula

le Sazzini, Marco, Gnecchi Ruscone, Guido Alberto, Giuliani, Cristina, Sarno, Stefania, Quagliariello, Andrea, De Fanti, Sara, Boattini, Alessio, Gentilini, Davide, Fiorito, Giovanni, Catanoso, Mariagrazia, Boiardi, Luigi, Croci, Stefania, Macchioni, Pierluigi, Mantovani, Vilma, Di Blasio, Anna Maria, Matullo, Giuseppe, Salvarani, Carlo, Franceschi, Claudio, Pettener, Davide, Garagnani, Paolo, Luiselli, Donata
Foilsithe in Sci Rep (2016)

Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells

le Daniele, Giulia, Simonetti, Giorgia, Fusilli, Caterina, Iacobucci, Ilaria, Lonoce, Angelo, Palazzo, Antonio, Lomiento, Mariana, Mammoli, Fabiana, Marsano, Renè Massimiliano, Marasco, Elena, Mantovani, Vilma, Quentmeier, Hilmar, Drexler, Hans G, Ding, Jie, Palumbo, Orazio, Carella, Massimo, Nadarajah, Niroshan, Perricone, Margherita, Ottaviani, Emanuela, Baldazzi, Carmen, Testoni, Nicoletta, Papayannidis, Cristina, Ferrari, Sergio, Mazza, Tommaso, Martinelli, Giovanni, Storlazzi, Clelia Tiziana
Foilsithe in Haematologica (2017)