Gurrieri, Fiorella
Gurrieri, Fiorella
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
2023 Amenta, Simona; Marangi, Giuseppe; Orteschi, D.; Frangella, Silvia; Gurrieri, Fiorella; Paccagnella, E.; Torella, A.; Cappuccio, G.; Musacchia, F.; Mutarelli, Massimiano; Carrella, D.; Vitiello, G.; Parenti, Gian Paolo; Leuzzi, V.; Selicorni, A.; Maitz, S.; Brunetti-Pierri, N.; Banfi, S.; Montomoli, M.; Milani, Daniela; Romano, Maria Concetta; Tummolo, Aida Angela; De Brasi, D.; Coppola, A.; Santoro, C.; Scala, M.; Romano, Federica; Capra, V.; Nigro, V.; Zollino, Marcella
RADX Gene Variant May Predispose to Familial Asperger Syndrome
2023 Azzarà, Alessia; Rumore, Roberto; Brugnoletti, Fulvia; Tabolacci, Elisabetta; Bottillo, Irene; Sangiorgi, Eugenio; Gurrieri, Fiorella
Identification of new candidate genes for spina bifida through exome sequencing
2021 Azzara, A.; Rendeli, Claudia; Crivello, Anna Maria; Brugnoletti, F.; Rumore, Roberto; Ausili, E.; Sangiorgi, Eugenio; Gurrieri, Fiorella
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients
2021 Di Donato, I.; Gallo, A.; Ricca, I.; Fini, N.; Silvestri, Gabriella; Gurrieri, Fiorella; Cirillo, M.; Cerase, A.; Natale, G.; Matrone, F.; Riso, V.; Melone, M. A. B.; Tessa, A.; De Michele, G.; Federico, A.; Filla, A.; Dotti, M. T.; Santorelli, F. M.
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis
2021 D'Ambrosio, Viola; Azzara, A.; Sangiorgi, Eugenio; Gurrieri, Fiorella; Hess, B.; Gambaro, Giovanni; Ferraro, Pietro Manuel
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers
2020 Marangi, G.; Garcovich, S.; Di Sante, G.; Orteschi, D.; Frangella, S.; Scaldaferri, F.; Genuardi, M.; Peris, K.; Gurrieri, F.; Zollino, M.
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
2020 Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, Veronica; Pennacchio, G.; Gurrieri, Fiorella; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
2019 Sangiorgi, Eugenio; Azzara, A; Molinario, C; Pietrobono, R; Rigante, Donato; Verrecchia, E; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
2019 Sangiorgi, Eugenio; Azzara', Alessia; Molinario, C; Pietrobono, Roberta; Rigante, Donato; Verrecchia, Elena; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
2018 Stagnaro, M; Pisciotta, L; Gherzi, M; Di Rocco, M; Gurrieri, Fiorella; Parrini, E; Prato, G; Veneselli, E; De Grandis, E.
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schonlein purpura
2018 Milillo, A; Molinario, C; Costanzi, S; Vischini, G; La Carpia, F; La Greca, F; Rigante, Donato; Gambaro, Giovanni; Gurrieri, Fiorella; Sangiorgi, Eugenio
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura
2018 Milillo, Annamaria; Molinario, Clelia; Costanzi, Stefano; Vischini, Gisella; La Carpia, Francesca; La Greca, F; Rigante, Donato; Gambaro, Giovanni; Gurrieri, Fiorella; Sangiorgi, Eugenio
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
2018 D'Amore, Angelica; Tessa, Alessandra; Casali, Carlo; Dotti, Maria Teresa; Filla, Alessandro; Silvestri, Gabriella; Antenora, Antonella; Astrea, Guja; Barghigiani, Melissa; Battini, Roberta; Battisti, Carla; Bruno, Irene; Cereda, Cristina; Dato, Clemente; Di Iorio, Giuseppe; Donadio, Vincenzo; Felicori, Monica; Fini, Nicola; Fiorillo, Chiara; Gallone, Salvatore; Gemignani, Federica; Gigli, Gian Luigi; Graziano, Claudio; Guerrini, Renzo; Gurrieri, Fiorella; Kariminejad, Ariana; Lieto, Maria; Marques LourenḈo, Charles; Malandrini, Alessandro; Mandich, Paola; Marcotulli, Christian; Mari, Francesco; Massacesi, Luca; Melone, Maria A B; Mignarri, Andrea; Milone, Roberta; Musumeci, Olimpia; Pegoraro, Elena; Perna, Alessia; Petrucci, Antonio; Pini, Antonella; Pochiero, Francesca; Pons, Maria Roser; Ricca, Ivana; Rossi, Salvatore; Seri, Marco; Stanzial, Franco; Tinelli, Francesca; Toscano, Antonio; Valente, Mariarosaria; Federico, Antonio; Rubegni, Anna; Santorelli, Filippo Maria
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
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.
2017 Giacanelli, M; Petrucci, A; Lispi, L; Luna, R; Neri, Giovanni; Gurrieri, Fiorella; Angelini, C
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.
2016 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
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.
2016 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
Recognizable facial features in patients with alternating hemiplegia of childhood.
2016 Gurrieri, Fiorella; Tiziano, Francesco Danilo; Zampino, Giuseppe; Neri, Giovanni
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy
2015 Milillo, A; La Carpia, F; Costanzi, S; D'Urbano, V; Martini, M; Lanuti, P; Vischini, G; Larocca, Lm; Marchisio, M; Miscia, S; Amoroso, A; Gurrieri, F; Sangiorgi, E
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.
2015 Sangiorgi, Eugenio; Gurrieri, Fiorella; Milillo, Annamaria; La Carpia, Francesca; Costanzi, Stefano; Martini, Maurizio; Larocca, Luigi Maria; Vischini, Gisella
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2023 | CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories | Amenta, Simona; Marangi, Giuseppe; Orteschi, D.; Frangella, Silvia; Gurrieri, Fiorella; Paccagnella, E.; Torella, A.; Cappuccio, G.; Musacchia, F.; Mutarelli, Massimiano; Carrella, D.; Vitiello, G.; Parenti, Gian Paolo; Leuzzi, V.; Selicorni, A.; Maitz, S.; Brunetti-Pierri, N.; Banfi, S.; Montomoli, M.; Milani, Daniela; Romano, Maria Concetta; Tummolo, Aida Angela; De Brasi, D.; Coppola, A.; Santoro, C.; Scala, M.; Romano, Federica; Capra, V.; Nigro, V.; Zollino, Marcella | |
| 1-gen-2023 | RADX Gene Variant May Predispose to Familial Asperger Syndrome | Azzarà, Alessia; Rumore, Roberto; Brugnoletti, Fulvia; Tabolacci, Elisabetta; Bottillo, Irene; Sangiorgi, Eugenio; Gurrieri, Fiorella | |
| 1-gen-2021 | Identification of new candidate genes for spina bifida through exome sequencing | Azzara, A.; Rendeli, Claudia; Crivello, Anna Maria; Brugnoletti, F.; Rumore, Roberto; Ausili, E.; Sangiorgi, Eugenio; Gurrieri, Fiorella | |
| 1-gen-2021 | POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients | Di Donato, I.; Gallo, A.; Ricca, I.; Fini, N.; Silvestri, Gabriella; Gurrieri, Fiorella; Cirillo, M.; Cerase, A.; Natale, G.; Matrone, F.; Riso, V.; Melone, M. A. B.; Tessa, A.; De Michele, G.; Federico, A.; Filla, A.; Dotti, M. T.; Santorelli, F. M. | |
| 1-gen-2021 | Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis | D'Ambrosio, Viola; Azzara, A.; Sangiorgi, Eugenio; Gurrieri, Fiorella; Hess, B.; Gambaro, Giovanni; Ferraro, Pietro Manuel | |
| 1-gen-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. | |
| 1-gen-2020 | Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation | Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, Veronica; Pennacchio, G.; Gurrieri, Fiorella; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro | |
| 1-gen-2019 | Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome | Sangiorgi, Eugenio; Azzara, A; Molinario, C; Pietrobono, R; Rigante, Donato; Verrecchia, E; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele | |
| 1-gen-2019 | Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. | Sangiorgi, Eugenio; Azzara', Alessia; Molinario, C; Pietrobono, Roberta; Rigante, Donato; Verrecchia, Elena; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele | |
| 1-gen-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, Fiorella; Parrini, E; Prato, G; Veneselli, E; De Grandis, E. | |
| 1-gen-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, Donato; Gambaro, Giovanni; Gurrieri, Fiorella; Sangiorgi, Eugenio | |
| 1-gen-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, Annamaria; Molinario, Clelia; Costanzi, Stefano; Vischini, Gisella; La Carpia, Francesca; La Greca, F; Rigante, Donato; Gambaro, Giovanni; Gurrieri, Fiorella; Sangiorgi, Eugenio | |
| 1-gen-2018 | Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study | D'Amore, Angelica; Tessa, Alessandra; Casali, Carlo; Dotti, Maria Teresa; Filla, Alessandro; Silvestri, Gabriella; Antenora, Antonella; Astrea, Guja; Barghigiani, Melissa; Battini, Roberta; Battisti, Carla; Bruno, Irene; Cereda, Cristina; Dato, Clemente; Di Iorio, Giuseppe; Donadio, Vincenzo; Felicori, Monica; Fini, Nicola; Fiorillo, Chiara; Gallone, Salvatore; Gemignani, Federica; Gigli, Gian Luigi; Graziano, Claudio; Guerrini, Renzo; Gurrieri, Fiorella; Kariminejad, Ariana; Lieto, Maria; Marques LourenḈo, Charles; Malandrini, Alessandro; Mandich, Paola; Marcotulli, Christian; Mari, Francesco; Massacesi, Luca; Melone, Maria A B; Mignarri, Andrea; Milone, Roberta; Musumeci, Olimpia; Pegoraro, Elena; Perna, Alessia; Petrucci, Antonio; Pini, Antonella; Pochiero, Francesca; Pons, Maria Roser; Ricca, Ivana; Rossi, Salvatore; Seri, Marco; Stanzial, Franco; Tinelli, Francesca; Toscano, Antonio; Valente, Mariarosaria; Federico, Antonio; Rubegni, Anna; Santorelli, Filippo Maria | |
| 1-gen-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 | |
| 1-gen-2017 | ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. | Giacanelli, M; Petrucci, A; Lispi, L; Luna, R; Neri, Giovanni; Gurrieri, Fiorella; Angelini, C | |
| 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 | 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 | 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, M; Lanuti, P; Vischini, G; Larocca, Lm; Marchisio, M; Miscia, S; Amoroso, A; Gurrieri, F; Sangiorgi, E | |
| 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 |