DI STAZIO, MARIATERESA
DI STAZIO, MARIATERESA
Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute
Collaboratori
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family
2014-01-01 Callea, M; Nieminen, P; Willoughby, Ce; Clarich, G; Yavuz, I; Vinciguerra, A; DI STAZIO, Mariateresa; Giglio, S; Sani, I; Maglione, Michele; Pensiero, Stefano; Tadini, G; Bellacchio, E.
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA
2007-01-01 Martinelli, M; DI STAZIO, Mariateresa; Scapoli, L; Marchesini, J; DI BARI, F; Pezzetti, F; Carinci, F; Palmieri, A; Carinci, P; Savoia, Anna
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
2011-01-01 Savoia, Anna; Pastore, A.; DE ROCCO, Daniela; Civaschi, E.; DI STAZIO, Mariateresa; Bottega, Roberta; Melazzini, F.; Bozzi, V.; Pecci, A.; Magrin, S.; Balduini, C. L.; Noris, P.
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations
2007-01-01 Savoia, Anna; Dufour, C; Locatelli, F; Noris, P; Ambaglio, C; Rosti, V; Zecca, M; Ferrari, S; DI BARI, F; Corcione, A; DI STAZIO, Mariateresa; Seri, M; Balduini, Cl
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II non-muscle myosin heavy chains
2004-01-01 Marigo, V; Nigro, A; Pecci, A; Montanaro, D; DI STAZIO, Mariateresa; Balduini, Cl; Savoia, Anna
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss
2015-01-01 Vuckovic, Dragana; Dawson, Sally; Scheffer, Deborah I; Rantanen, Taina; Morgan, Anna; DI STAZIO, Mariateresa; Vozzi, Diego; Nutile, Teresa; Concas, MARIA PINA; Biino, Ginevra; Nolan, Lisa; Bahl, Aileen; Loukola, Anu; Viljanen, Anne; Davis, Adrian; Ciullo, Marina; Corey, David P; Pirastu, Mario; Gasparini, Paolo; Girotto, Giorgia
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders
2023-01-01 Di Stazio, Mariateresa; Zanus, Caterina; Faletra, Flavio; Pesaresi, Alessia; Ziccardi, Ilaria; Morgan, Anna; Girotto, Giorgia; Costa, Paola; Carrozzi, Marco; D’Adamo, Adamo P.; Musante, Luciana
Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes
2021-01-01 Di Stazio, Mariateresa; Bigoni, Stefania; Iuso, Nicola; Vuch, Josef; Selvatici, Rita; Ulivi, Sheila; D’Adamo, Pio Adamo
Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate.
2008-01-01 Martinelli, M; Arlotti, M; Palmieri, A; Scapoli, L; Savoia, Anna; DI STAZIO, Mariateresa; Pezzetti, F; Masiero, E; Carinci, F.
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
2011-01-01 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.
New age-related hearing loss candidate genes in humans: an ongoing challenge
2020-01-01 Di Stazio, M.; Morgan, A.; Brumat, M.; Bassani, S.; Dell'Orco, D.; Marino, V.; Garagnani, P.; Giuliani, C.; Gasparini, P.; Girotto, G.
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss
2019-01-01 Girotto, Giorgia; Morgan, Anna; Krishnamoorthy, Navaneethakrishnan; Cocca, Massimiliano; Brumat, Marco; Bassani, Sissy; La Bianca, Martina; Di Stazio, Mariateresa; Gasparini, Paolo
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
2019-01-01 Morgan, Anna; Vuckovic, Dragana; Krishnamoorthy, Navaneethakrishnan; Rubinato, Elisa; Ambrosetti, Umberto; Castorina, Pierangela; Franzè, Annamaria; Vozzi, Diego; La Bianca, Martina; Cappellani, Stefania; Di Stazio, Mariateresa; Gasparini, Paolo; Girotto, Giorgia
PSIP1/LEDGF: A new gene likely involved in sensorineural progressive hearing loss
2015-01-01 Girotto, Giorgia; Scheffer, Déborah I.; Morgan, Anna; Vozzi, Diego; Rubinato, Elisa; DI STAZIO, Mariateresa; Muzzi, Enrico; Pensiero, Stefano; Giersch, Anne B.; Corey, David P.; Gasparini, Paolo
Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers
In corso di stampa Balasan, Nour; Kharrat, Feras; Di Lorenzo, Giovanni; Athanasakis, Emmanouil; Bianco, Anna Monica; Conti, Andrea; Di Stazio, Maria Teresa; Butera, Giulia; Cicogna, Stefania; Mangogna, Alessandro; Romano, Federico; Ricci, Giuseppe; D'Adamo, Adamo Pio
Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique
2021-01-01 Di Stazio, M.; Foschi, N.; Athanasakis, E.; Gasparini, P.; D'Adamo, A. P.
TBL1Y: a new gene involved in syndromic hearing loss
2019-01-01 DI STAZIO, Mariateresa; Collesi, Chiara; Vozzi, Diego; Liu, Wei; Myers, Mike; Morgan, Anna; D'Adamo, ADAMO PIO; Girotto, Giorgia; Rubinato, Elisa; Giacca, Mauro; Gasparini, Paolo
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
2022-01-01 Bianco, Anna Monica; Ragusa, Giulia; Di Carlo, Valentina; Faletra, Flavio; Di Stazio, Mariateresa; Racano, Costantina; Trisolino, Giovanni; Cappellani, Stefania; De Pellegrin, Maurizio; D’Addetta, Ignazio; Carluccio, Giuseppe; Monforte, Sergio; Andreacchio, Antonio; Dibello, Daniela; D’Adamo, Adamo P.