Identification and validation of loss of function variants in clinical contexts

av Lescai, Francesco, Marasco, Elena, Bacchelli, Chiara, Stanier, Philip, Mantovani, Vilma, Beales, Philip
Publicerad 2014

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

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

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

av Forlani, Gabriele, Zucchini, Stefano, Di Rocco, Antonio, Di Luzio, Raffaella, Scipione, Mirella, Marasco, Elena, Romeo, Giovanni, Marchesini, Giulio, Mantovani, Vilma
Publicerad 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...

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

TRPV1 Channels Regulate Cortical Excitability in Humans

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

Genetic distinctions between autoimmune hepatitis in Italy and North America

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

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

av 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
Publicerad 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...

av 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
Publicerad 2012

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

av 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
Publicerad 2014

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

av 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
Publicerad 2014

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

av 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
I publikationen EMBO Mol Med (2014)

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

av 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
Publicerad 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...

av 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
I publikationen Front Genet (2020)

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

av 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
I publikationen Sci Rep (2016)

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

av 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
I publikationen Haematologica (2017)