IRIS PubliCatt

Sfoglia per Autore  

Opzioni
Mostrati risultati da 21 a 40 di 66
Data di pubblicazione Titolo Autore(i) File
1-gen-2016 Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects. La Carpia, Francesca; Rendeli, Claudia; Molinario, Clelia; Milillo, Annamaria; Farroni, C.; Cannelli, Natalia; Ausili, Emanuele; Paolucci, V.; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella
1-gen-2016 Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects La Carpia, Francesca; Rendeli, Claudia; Clelia, Molinario; Milillo, Annamaria; Farroni, Chiara; Cannelli, Natalia; Ausili, Emanuele; Paolucci, Valentina; Neri, Giovanni; Romagnoli, Costantino; Sangiorgi, Eugenio; Gurrieri, Fiorella
1-gen-2016 Recognizable facial features in patients with alternating hemiplegia of childhood. Gurrieri, Fiorella; Tiziano, Francesco Danilo; Zampino, Giuseppe; Neri, Giovanni
1-gen-2015 A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy Milillo, A; La Carpia, F; Costanzi, S; D'Urbano, V; Martini, Maurizio; Lanuti, P; Vischini, G; Larocca, Luigi Maria; Marchisio, M; Miscia, S; Amoroso, A; Gurrieri, Fiorella; Sangiorgi, Eugenio
1-gen-2015 Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype Gurrieri, Fiorella; Ponzi, Emanuela; Asaro, Alessia; Orteschi, Daniela; Genuardi, Maurizio; Zollino, Marcella
1-gen-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
1-gen-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.
1-gen-2015 NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. Gurrieri, Fiorella; Cavaliere, Ml; Priolo, M; Wischmeijer, A; Mammì, C; Neri, G; Pisanti, Ma; Rodella, G; Laganà, C.
1-gen-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.
1-gen-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.
1-gen-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.
1-gen-2013 Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update Gurrieri, Fiorella; Everman, Db
1-gen-2013 Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. Gurrieri, Fiorella; Zollino, Marcella; Oliva, Antonio; Pascali, Vincenzo Lorenzo; Orteschi, Daniela; Pietrobono, Roberta; Camporeale, Antonia; Bellocci, Fulvio; Neri, Giovanni; Coll Vidal, Monica; Partemi, Sara; Brugada, R.
1-gen-2013 Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. Genuardi, Maurizio; Gurrieri, Fiorella; Zollino, M.
1-gen-2013 Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Boccuto, Luigi; Lauri, Maria; Sarasua, Sm; Skinner, Cd; Buccella, D; Dwivedi, A; Zollino, Marcella; Orteschi, Daniela; Visconti, P; Dupont, B; Tiziano, Francesco Danilo; Schroer, Rj; Neri, Giovanni; Stevenson, Re; Gurrieri, Fiorella; Schwartz, Ce; Collins, Js
1-gen-2013 Encomium: Giovanni Neri--polyhedral and down-to-earth mentor Genuardi, Maurizio; Gurrieri, Fiorella; Zollino, Marcella
1-gen-2012 Working up autism: the practical role of medical genetics. Gurrieri, Fiorella
1-gen-2012 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Heinzen, El; Swoboda, Kj; Hitomi, Y; Gurrieri, Fiorella; Tiziano, Francesco Danilo; Nicole, S; Fontaine, B; De Vries, B; Walley, Nm; Heavin, S; Panagiotakaki, E; Koelewijn, S; Kamphorst, J; Geilenkirchen, M; Pelzer, N; Laan, L; Haan, J; Ferrari, Mirella; Van Den Maagdenberg, A; Fiori, S; Abiusi, E; Di Pietro, Lorena; Sweney, Mt; Newcomb, Tm; Viollet, L; Huff, C; Jorde, Lb; Reyna, Sp; Murphy, Kj; Shianna, Kv; Gumbs, Ce; Little, L; Silver, K; Ptáček, Lj; Haan, J; Herke, S Gk; Whitelaw, Cm; Webb, D; Lynch, Bj; Uldall, P; King, Md; Scheffer, Ie; Neri, Giovanni; Arzimanoglou, A; Sisodiya, Sm; Mikati, Ma; Goldstein, Db
1-gen-2012 Coding exons function as tissue-specific enhancers of nearby genes. Gurrieri, Fiorella; Altri Autori, Stranieri
1-gen-2012 Functional characterization of tissue-specific enhancers in the DLX5/6 locus Birnbaum, Ry; Gurrieri, Fiorella; Ahituv, N; Schwartz, Ce; Everman, Db; Murphy, Kk
Mostrati risultati da 21 a 40 di 66
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile