PIZZUTI, Antonio

PIZZUTI, Antonio  

DIPARTIMENTO DI MEDICINA SPERIMENTALE  

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Titolo Data di pubblicazione Autore(i) File
. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 2003 Brancati, F; Valente, Em; Davies, Np; Sarkozy, A; Sweeney, Mg; Lomonaco, M; Pizzuti, Antonio; Hanna, Mg; Dallapiccola, B.
A cluster of 3 single nucleotide polymorphisms in the 3\'-untranslated region of human glycoprotein PC-1 gene stabilizes mRNA and associates with increased protein content and insulin resistance related abnormalities 2001 Lucia, Frittitta; Tonino, Ercolino; Maura, Bozzali; Alessandra, Argiolas; Salvo, Graci; MARIA G., Santagati; Daniela, Spampinato; ROSA DI, Paola; Vittorio, Tassi; Riccardo, Vigneri; Pizzuti, Antonio; Trischitta, Vincenzo
A homozigous GJA1 gene mutation causes a Hellermann-Streiff/ODDD overlapping phenotype 2004 Pizzuti, Antonio; Flex, E.; Mingarelli, R.; Salpietro, C; Zelante, L; Dallapiccola, B.
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 2004 Francesco, Brancati; E. M., Valente; A., Sarkozy; J., Feher; M., Castori; P., Del Duca; R., Mingarelli; Pizzuti, Antonio; B., Dallapiccola
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1 2020 Giuffrida, M. G.; Mastromoro, G.; Guida, V.; Truglio, M.; Fabbretti, M.; Torres, B.; Mazza, T.; De Luca, A.; Roggini, M.; Bernardini, L.; Pizzuti, A.
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome 2022 Micolonghi, Caterina; Piane, Maria; Germani, Aldo; Sadeghi, Soha; Libi, Fabio; Savio, Camilla; Fabiani, Marco; Mancini, Rita; Ranieri, Danilo; Pizzuti, Antonio; Corleto, Vito Domenico; Parisi, Pasquale; Visco, Vincenzo; Di Nardo, Giovanni; Petrucci, Simona
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non-migraine-like headache. Expanding the genotypic spectrum of CADASIL? 2022 Scala, Irene; Piane, Maria; Frisullo, Giovanni; Marotta, Jessica; Bellavia, Simone; Andrea Rizzo, Pier; Rollo, Eleonora; Vollono, Catello; Pizzuti, Antonio; Brunetti, Valerio; Della Marca, Giacomo
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy 2023 Micolonghi, Caterina; Fabiani, Marco; Pagannone, Erika; Savio, Camilla; Ricci, Marta; Caroselli, Silvia; Gambioli, Vittoria; Musumeci, Maria Beatrice; Germani, Aldo; TINI MELATO, Giacomo; Autore, Camillo; Pizzuti, Antonio; Visco, Vincenzo; Rubattu, Speranza Donatella; Petrucci, Simona; Piane, Maria
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome 2004 Sarkozy, A; Obregon, Mg; Conti, E; Esposito, G; Mingarelli, R; Pizzuti, Antonio; DALLA PICCOLA, Bruno
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series 2022 Mastromoro, Gioia; Guadagnolo, Daniele; Khaleghi Hashemian, Nader; Bernardini, Laura; Giancotti, Antonella; Piacentini, Gerardo; De Luca, Alessandro; Pizzuti, Antonio
A PC-1 aminoacid variant (K121Q) is associated with faster progression of renal disease in patients with type 1 diabetes and albuminuria. 2000 S., DE COSMO; A., Argiolas; G., Miscio; S., Thomas; Gp, Piras; R., Trevisan; P., CAVALLO PERIN; S., Bacci; L., Zucaro; M., Margaglione; L., Frittitta; Pizzuti, Antonio; V., Tassi; Gc, Viberti; Trischitta, Vincenzo
A polymorphism (K121Q) of the human glycoprotein PC-1 coding region is strongly associated with insulin resistance 1999 Pizzuti, Antonio; Frittitta, L; Argiolas, A; Baratta, R; GOLDFINE I., D; Bozzali, M; Ercolino, T; Scarlato, G; Iacoviello, L; Vigneri, R; Tassi, V; Trischitta, Vincenzo
A sketch of known and novel MYCN-associated miRNA networks in neuroblastoma 2017 Megiorni, Francesca; Colaiacovo, Moreno; Cialfi, Samantha; Mcdowell, Heather P; Guffanti, Alessandro; Camero, Simona; Felsani, Armando; Losty, Paul D; Pizer, Barry; Shukla, Rajeev; Cappelli, Carlo; Ferrara, Eva; Pizzuti, Antonio; Moles, Anna; Dominici, Carlo
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect 2006 Sarkozy, A; Lepri, F; MARINO TAUSSIG DE BODONIA, Bruno; Pizzuti, Antonio; Digilio, Mc; DALLA PICCOLA, Bruno
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patients 2023 Rigolin, Gian Matteo; Traversa, Alice; Caputo, Viviana; Del Giudice, Ilaria; Bardi, Antonella; Saccenti, Elena; Raponi, Sara; Ilari, Caterina; Cafforio, Luciana; Giovannetti, Agnese; Pizzuti, Antonio; Guarini, Anna; Foà, Robin; Cuneo, Antonio
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain 2006 A., Bertolino; G., Blasi; V., Latorre; V., Rubino; A., Rampino; Lorenzo, Sinibaldi; G., Caforio; V., Petruzzella; Pizzuti, Antonio; T., Scarabino; M., Nardini; D. R., Weinberger; B., Dallapiccola
Altered expression of candidate genes in Mayer–Rokitansky–Küster–Hauser syndrome may influence vaginal keratinocytes biologya. A focus on Protein Kinase X 2021 Pontecorvi, P.; Megiorni, F.; Camero, S.; Ceccarelli, S.; Bernardini, L.; Capalbo, A.; Anastasiadou, E.; Gerini, G.; Messina, E.; Perniola, G.; Panici, P. B.; Grammatico, P.; Pizzuti, A.; Marchese, C.
An ATG repeat in the 3’UTR of the hResistin gene is associated with a decreased risk of insulin resistance 2002 Pizzuti, Antonio; Argiolas, A; DI PAOLA, R; Baratta, R; Rauseo, A; Bozzali, M; Vigneri, R; Dallapiccola, B; Trischitta, Vincenzo; Frittitta, L.
An observational study to assess Italian obstetrics providers' knowledge about preventive practices and diagnosis of congenital cytomegalovirus 2020 Boccherini, C.; D'Ambrosio, V.; Corno, S.; Vena, F.; Pajno, C.; Piccioni, M. G.; Rech, F.; Ciolli, P.; Brunelli, R.; Benedetti Panici, P.; Pizzuti, A.; Muzii, L.; Giancotti, A.
An up-todate on the methabolic syndrome's epigenomic 2017 Pizzuti, Antonio; Perricone, Rosa Anna