GURRIERI, FIORELLA
GURRIERI, FIORELLA
Facoltà Dipartimentale di Medicina e Chirurgia
"MARCATORI MOLECOLARI PER L'AUTISMO"
2008-01-01 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
2003-01-01 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
1991-01-01 Gurrieri, F; Neri, G
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing
2024-01-01 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
2005-01-01 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
2005-01-01 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?
2023-01-01 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
1996-01-01 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.
2015-01-01 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
1992-01-01 Gurrieri, F; Neri, G
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
2017-01-01 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.
2017-01-01 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.
2018-01-01 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
2022-01-01 Azzarà, Alessia; Cassano, Ilaria; Paccagnella, Elisa; Lintas, Carla; Laino, Luigi; Sacco, Roberto; Grammatico, Paola; Gurrieri, Fiorella
Chromosome 15 cryptic rearrangements in pervasive developmental disorders.
2001-01-01 Gurrieri, F; Russo, L; Giordano, T; De Vincenzi, E; Neri, G
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome
1998-01-01 Neri, G; Gurrieri, F; Zanni, G; Lin, A
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome
2005-01-01 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
2015-01-01 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
2013-01-01 Gurrieri, Fiorella; Everman, Db
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
2014-01-01 Gurrieri, Fiorella
| 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 |