GURRIERI, FIORELLA

GURRIERI, FIORELLA  

Facoltà Dipartimentale di Medicina e Chirurgia  

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Titolo Data di pubblicazione Autore(i) File
"MARCATORI MOLECOLARI PER L'AUTISMO" 1-gen-2008 Castagnola, M; Neri, G; Torrioli, Mg; Messana, I; Cabras, T; Gurrieri, F; Inzitari, R; Fanali, C
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 1-gen-2003 de Mollerat, Xj; Gurrieri, F; Morgan, Ct; Sangiorgi, E; Everman, Db; Gaspari, P; Amiel, J; Bamshad, Mj; Lyle, R; Blouin, Jl; Allanson, Je; Le Marec, B; Wilson, M; Braverman, Ne; Radhakrishna, U; Delozier-Blanchet, C; Abbott, A; Elghouzzi, V; Antonarakis, S; Stevenson, Re; Munnich, A; Neri, G; Schwartz, Ce
A GIRL WITH THE LUJAN-FRYNS SYNDROME 1-gen-1991 Gurrieri, F; Neri, G
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing 1-gen-2024 Azzarà, Alessia; Cassano, Ilaria; Lintas, Carla; Bernardini, Laura; Pilato, Fabio; Capone, Fioravante; Di Lazzaro, Vincenzo; Gurrieri, Fiorella
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes 1-gen-2005 Russo, L; Mariotti, P; Sangiorgi, E; Giordano, T; Ricci, I; Lupi, F; Chiera, R; Guzzetta, F; Neri, G; Gurrieri, F
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer 1-gen-2005 Lucci-Cordisco, E; Zollino, M; Baglioni, S; Mancuso, I; Lecce, R; Gurrieri, F; Crucitti, A; Papi, L; Neri, G; Genuardi, M
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? 1-gen-2023 Bottillo, Irene; Laino, Luigi; Azzarà, Alessia; Lintas, Carla; Cassano, Ilaria; Di Lazzaro, Vincenzo; Ursini, Francesca; Motolese, Francesco; Bargiacchi, Simone; Formicola, Daniela; Grammatico, Paola; Gurrieri, Fiorella
A split hand-split foot (SHFM3) gene is located at 10q24-->25 1-gen-1996 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.
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy. 1-gen-2015 Sangiorgi, Eugenio; Gurrieri, Fiorella; Milillo, Annamaria; La Carpia, Francesca; Costanzi, Stefano; Martini, Maurizio; Larocca, Luigi Maria; Vischini, Gisella
AN ADDITIONAL PATIENT WITH THE 3C SYNDROME 1-gen-1992 Gurrieri, F; Neri, G
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus 1-gen-2017 Carbonella, Angela; Mancano, Giorgia; Gremese, Elisa; Alkuraya, F. S.; Patel, N.; Gurrieri, Fiorella; Ferraccioli, Gianfranco
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. 1-gen-2017 Giacanelli, M; Petrucci, A; Lispi, L; Luna, R; Neri, G; Gurrieri, F; Angelini, C
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 1-gen-2018 Stagnaro, M; Pisciotta, L; Gherzi, M; Di Rocco, M; Gurrieri, F; Parrini, E; Prato, G; Veneselli, E; De Grandis, E.
AUTS2-Related Neuropsychiatric Disorders with Intrafamilial Variability 1-gen-2022 Azzarà, Alessia; Cassano, Ilaria; Paccagnella, Elisa; Lintas, Carla; Laino, Luigi; Sacco, Roberto; Grammatico, Paola; Gurrieri, Fiorella
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 1-gen-2001 Gurrieri, F; Russo, L; Giordano, T; De Vincenzi, E; Neri, G
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 1-gen-1998 Neri, G; Gurrieri, F; Zanni, G; Lin, A
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome 1-gen-2005 Rodriguez-Criado, G; Magano, L; Segovia, M; Gurrieri, F; Neri, G; Gonzalez-Meneses, A; de Terreros, Ig; Valdez, Ir; Gracia, R; Lapunzina, P
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients 1-gen-2015 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.
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update 1-gen-2013 Gurrieri, Fiorella; Everman, Db
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 1-gen-2014 Gurrieri, Fiorella