IRIS PubliCatt
PubliCatt è il repository istituzionale ad accesso aperto dell'Università Cattolica del Sacro Cuore, dove gli utenti autorizzati afferenti all'Ateneo provvedono direttamente e autonomamente a depositare e a rendere visibili le proprie pubblicazioni, inserendo i dati descrittivi del documento stesso ("metadati", quali il titolo, autore, abstract, etc.) e, laddove possibile, il testo della pubblicazione stessa (full-text).
PubliCatt utilizza la piattaforma IRIS (Institutional Research Information System) sviluppata da CINECA.
ItalianoGurrieri, Fiorella
Dettaglio
Gurrieri, Fiorella
Pubblicazioni
Risultati 1 - 20 di 54 (tempo di esecuzione: 0.001 secondi).
| Data di pubblicazione | Titolo | Autore(i) | File | |
|---|---|---|---|---|
| 1 | 1996 | A split hand-split foot (SHFM3) gene is located at 10q24-->25 | Gurrieri, Fiorella; Prinos, P; Tackels, D; Kilpatrick, Mw; Allanson, J; Genuardi, M; Vuckov, A; Nanni, L; Sangiorgi, Eugenio; Garofalo, G; Nunes, Me; Neri, Giovanni; Schwartz, C; Tsipouras, P. | - |
| 2 | 2015 | A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. | Sangiorgi, Eugenio; Gurrieri, Fiorella; Milillo, Annamaria; La Carpia, Francesca; Costanzi, Stefano; Martini, Maurizio; Larocca, Luigi Maria; Vischini, Gisella | - |
| 3 | 2001 | Advances in the genetics of progressive myoclonus epilepsy | Torrisi, L.; Sangiorgi, E.; Russo, L.; Gurrieri, F. | - |
| 4 | 2017 | ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. | Giacanelli, M; Petrucci, A; Lispi, L; Luna, R; Neri, G; Gurrieri, F; Angelini, C | - |
| 5 | 2018 | ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. | Stagnaro, M; Pisciotta, L; Gherzi, M; Di Rocco, M; Gurrieri, F; Parrini, E; Prato, G; Veneselli, E; De Grandis, E. | - |
| 6 | 2017 | An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus | Carbonella, Angela; Mancano, Giorgia; Gremese, Elisa; Alkuraya, F. S.; Patel, N.; Gurrieri, Fiorella; Ferraccioli, Gianfranco | - |
| 7 | 2015 | Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients | Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; De Vries, B; Goubau, C; Weckhuysen, S; Kemlink, D; Scheffer, I; Lesca, G; Rabilloud, M; Klich, A; Ramirez Camacho, A; Ulate Campos, A; Campistol, J; Giannotta, M; Moutard, M; Doummar, D; Hubsch Bonneaud, C; Jaffer, F; Cross, H; Gurrieri, Fiorella; Tiziano, Francesco Danilo; Nevsimalova, S; Nicole, S; Neville, B; Van Den Maagdenberg, Amjm; Mikati, M; Goldstein, Db; Vavassori, R; Arzimanoglou, A. | Open Access |
| 8 | 2015 | Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. | Gurrieri, Fiorella; Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; Tiziano, Francesco Danilo; Nicole, ; Nevsimalova, S; Neville, B; Van Den Maagdenberg, Am; Mikati, M; Goldstein, D. | - |
| 9 | 2013 | Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update | Gurrieri, Fiorella; Everman, Db | - |
| 10 | 2014 | CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study | Gurrieri, Fiorella; Del, Giudice; Macca, M; Imperati, F; D'Amico, A; Parent, P; Pasquier, L; Layet, V; Lyonnet, S; Stamboul-Darmency, V; Thauvin-Robinet, C; Franco, B. | - |
| 11 | 2012 | Coding exons function as tissue-specific enhancers of nearby genes. | Gurrieri, Fiorella; Altri Autori, Stranieri | - |
| 12 | 2020 | Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers | Marangi, G.; Garcovich, S.; Di Sante, G.; Orteschi, D.; Frangella, S.; Scaldaferri, F.; Genuardi, M.; Peris, K.; Gurrieri, F.; Zollino, M. | - |
| 13 | 2018 | Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schonlein purpura | Milillo, A; Molinario, C; Costanzi, S; Vischini, G; La Carpia, F; La Greca, F; Rigante, D; Gambaro, G; Gurrieri, F; Sangiorgi, E | - |
| 14 | 2018 | Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura | Milillo, A; Molinario, C; Costanzi, S; Vischini, G; La Carpia, F; La Greca, F; Rigante, D; Gambaro, G; Gurrieri, F; Sangiorgi, E. | - |
| 15 | 2009 | Defective loxytocin function: a clue to understanding the cause of autism? | Neri, Giovanni; Gurrieri, Fiorella | - |
| 16 | 2009 | Defective oxytocin function: a clue to understanding the cause of autism | Gurrieri, Fiorella; Neri, Giovanni | - |
| 17 | 2007 | Difetti genetici dello sviluppo embrionale | Gurrieri, Fiorella; Sangiorgi, Eugenio | - |
| 18 | 2014 | Distinct neurological disorders with ATP1A3 mutations. | Gurrieri, Fiorella; Heinzen, Erin; Arzimanoglou, A; Brashear, A; Clapcote, S; Goldstein, D; Joannesson, S; Mikati, M; Neville, B; Nicole, S; Ozelius, L; Poulsen, A; Schyns, T; Sweander, K; Maagdenberg, A; Vilsen, B. | - |
| 19 | 2009 | Elements of Morphology: standard terminology for the hands and feet | Biesecker, Leslie; Aase, John; Clericuzio, Carol; Gurrieri, Fiorella; Temple, Karin; Toriello, Helga | - |
| 20 | 2013 | Encomium: Giovanni Neri--polyhedral and down-to-earth mentor | Genuardi, Maurizio; Gurrieri, Fiorella; Zollino, Marcella | - |
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