MORGUTTI, MARCELLO
MORGUTTI, MARCELLO
Collaboratori
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients
2011-01-01 Crovella, Sergio; Segat, Ludovica; Amato, Annalisa; Athanasakis, Emmanouil; Bezzerri, Valentino; Braggion, Cesare; Casciaro, Rosaria; Castaldo, Giuseppe; Colombo, Carla; Covone, Angela Elvira; De Rose, Virginia; Gagliardini, Rolando; Lanzara, Carmen; Minicucci, Laura; Morgutti, Marcello; Nicolis, Elena; Pardo, Francesca; Quattrucci, Serena; Raia, Valeria; Ravazzolo, Roberto; Seia, Manuela; Stanzial, Valentino; Termini, Lisa; Zazzeron, Laura; Cabrini, Giulio; Gasparini, Paolo
Five new OTOF gene mutations and auditory neuropathy
2010-01-01 Zadro, Cristina; Ciorba, Andrea; Fabris, Annalisa; Morgutti, Marcello; Trevisi, Patrizia; Gasparini, Paolo; Martini, Alessandro
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations
2018-01-01 Morgan, Anna; Lenarduzzi, Stefania; Cappellani, Stefania; Pecile, Vanna; Morgutti, Marcello; Orzan, Eva; Ghiselli, Sara; Ambrosetti, Umberto; Brumat, Marco; Gajendrarao, Poornima; La Bianca, Martina; Faletra, Flavio; Grosso, Enrico; Sirchia, Fabio; Sensi, Alberto; Graziano, Claudio; Seri, Marco; Gasparini, Paolo; Girotto, Giorgia
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss
2019-01-01 Lenarduzzi, S.; Morgan, A.; Faletra, F.; Cappellani, S.; Morgutti, M.; Mezzavilla, M.; Peruzzi, A.; Ghiselli, S.; Ambrosetti, U.; Graziano, C.; Seri, M.; Gasparini, P.; Girotto, G.
Short Communication Novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients
2014-01-01 Lenarduzzi, Stefania; Morgutti, Marcello; Crovella, Sergio; Coiana, A; Rosatelli, M. C.
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
2022-01-01 Persico, I.; Feresin, A.; Faleschini, M.; Fontana, G.; Sirchia, F.; Faletra, F.; La Bianca, M.; Suergiu, S.; Morgutti, M.; Maschio, M.; D'Adamo, A. P.; Raraigh, K.; Savoia, A.; Bottega, R.
Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis
2015-01-01 Lenarduzzi, Stefania; Vozzi, Diego; Morgan, Anna; Rubinato, Elisa; D'Eustacchio, A.; Osland, TERESA MARIA; Rossi, C.; Graziano, C.; Castorina, P.; Ambrosetti, U.; Morgutti, Marcello; Girotto, Giorgia