Brunetti Pierri, Raffaella
Brunetti Pierri, Raffaella
Dipartimento Multidisciplinare di Specialità Medico-Chirurgiche e Odontoiatriche
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot
2018 Alagia, Marianna; Cappuccio, Gerarda; Pinelli, Michele; Torella, Annalaura; Brunetti-Pierri, Raffaella; Simonelli, Francesca; Limongelli, Giuseppe; Oppido, Guido; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Brunetti Pierri, Raffaella
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency
2009 Nuzzo, V.; Tauchmanova, L.; Brunetti-Pierri, R.; Zuccoli, A.; Lupoli, G.; Colao, A.; Brunetti-Pierri, N.
Applications of Optical Coherence Tomography in the Ocular Diagnosis: From the Tear Film to the Sclera
2022 Iovino, Claudio; DI IORIO, Valentina; Brunetti Pierri, Raffaella; Lanza, Michele
Chlamydia trachomatis induces an upregulation of molecular biomarkers podoplanin, Wilms' tumour gene 1, osteopontin and inflammatory cytokines in human mesothelial cells.
2017 De Filippis, A; Buommino, E; Di Domenico, M; Feola, A; Brunetti Pierri, R; Rizzo, A.; Brunetti Pierri, Raffaella; DE FILIPPIS, Anna
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa
2020 Karali, M.; Testa, F.; Brunetti Pierri, R.; Di Iorio, V; Pizzo, M.; Melillo, P.; Barillari, M. R.; Torella, A.; Musacchia, F.; D'Angelo, L.; Banfi, S.; Simonelli, F.
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies
2017 Di Iorio, Valentina; Karali, Marianthi; Brunetti-pierri, Raffaella; Filippelli, Mariaelena; Di Fruscio, Giuseppina; Pizzo, Mariateresa; Mutarelli, Margherita; Nigro, Vincenzo; Testa, Francesco; Banfi, Sandro; Simonelli, Francesca
Clinical and molecular characterization of achromatopsia patients: A longitudinal study
2021 Brunetti-Pierri, R.; Karali, M.; Melillo, P.; Di Iorio, V.; De Benedictis, A.; Iaccarino, G.; Testa, F.; Banfi, S.; Simonelli, F.
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
2022 Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P M; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro
Infiltrating giant cell tumor in a case of Paget's disease of bone
2009 Nuzzo, V.; Ferrara, T.; Zuccoli, A.; Brunetti-Pierri, R.; De Rosa, R.; Falchetti, A.; Franco, R.; Brunetti-Pierri, N.; Brunetti Pierri, Raffaella
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy
2017 Testa, Francesco; Filippelli, Mariaelena; Brunetti-Pierri, Raffaella; Di Fruscio, Giuseppina; Di Iorio, Valentina; Pizzo, Mariateresa; Torella, Annalaura; Barillari, Maria Rosaria; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Simonelli, Francesca; Banfi, Sandro
Post-operative results of corneal collagen cross-linking for progressive keratoconus
2012 Rossi, Settimio; Testa, Francesco; Santamaria, C; Orrico, A; Boccia, R; BRUNETTI PIERRI, R; D’Alterio, F. M.; Simonelli, Francesca; DE ROSA, Giuseppe; Brunetti Pierri, Raffaella
Prevalence of macular abnormalities assessed by Optical Coherence Tomography in patients with Usher Syndrome
2016 Gallo, Beatrice; Colucci, Raffaella; De Benedictis, Antonella; Brunetti-Pierri, Raffaella; Melillo, Paolo; Rossi, Settimio; Testa, Francesco; Azzolini, Claudio; Della Corte, Michele; Simonelli, Francesca; Brunetti Pierri, Raffaella
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome
2018 Testa, Francesco; Melillo, Paolo; Rossi, Settimio; Marcelli, Vincenzo; de Benedictis, Antonella; Colucci, Raffaella; Gallo, Beatrice; Brunetti Pierri, Raffaella; Donati, Simone; Azzolini, Claudio; Marciano, Elio; Simonelli, Francesca
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
2019 Cappuccio, Gerarda; Brunetti-Pierri, Raffaella; Torella, Annalaura; Pinelli, Michele; Castello, Raffaele; Casari, Giorgio; Nigro, Vincenzo; Banfi, Sandro; Simonelli, Francesca; Brunetti-Pierri, Nicola
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations
2020 Di Iorio, Valentina; Karali, Marianthi; Melillo, Paolo; Testa, Francesco; Brunetti-Pierri, Raffaella; Musacchia, Francesco; Condroyer, Christel; Neidhardt, John; Audo, Isabelle; Zeitz, Christina; Banfi, Sandro; Simonelli, Francesca
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: A case report
2012 Rossi, S; Testa, F; Gargiulo, A; Di Iorio, V; Brunetti Pierri, R; D'Alterio, Fm; Corte, Md; Surace, E; Simonelli, F.
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients
2021 Testa, F.; Melillo, P.; della Corte, M.; Di Iorio, V.; Brunetti Pierri, R.; Citro, A.; Ferrara, M.; Karali, M.; Annibale, R.; Banfi, S.; Rossi, S.; Simonelli, F.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot | 1-gen-2018 | Alagia, Marianna; Cappuccio, Gerarda; Pinelli, Michele; Torella, Annalaura; Brunetti-Pierri, Raffaella; Simonelli, Francesca; Limongelli, Giuseppe; Oppido, Guido; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Brunetti Pierri, Raffaella | |
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency | 1-gen-2009 | Nuzzo, V.; Tauchmanova, L.; Brunetti-Pierri, R.; Zuccoli, A.; Lupoli, G.; Colao, A.; Brunetti-Pierri, N. | |
Applications of Optical Coherence Tomography in the Ocular Diagnosis: From the Tear Film to the Sclera | 1-gen-2022 | Iovino, Claudio; DI IORIO, Valentina; Brunetti Pierri, Raffaella; Lanza, Michele | |
Chlamydia trachomatis induces an upregulation of molecular biomarkers podoplanin, Wilms' tumour gene 1, osteopontin and inflammatory cytokines in human mesothelial cells. | 1-gen-2017 | De Filippis, A; Buommino, E; Di Domenico, M; Feola, A; Brunetti Pierri, R; Rizzo, A.; Brunetti Pierri, Raffaella; DE FILIPPIS, Anna | |
Clinical and genetic analysis of a european cohort with pericentral retinitis pigmentosa | 1-gen-2020 | Karali, M.; Testa, F.; Brunetti Pierri, R.; Di Iorio, V; Pizzo, M.; Melillo, P.; Barillari, M. R.; Torella, A.; Musacchia, F.; D'Angelo, L.; Banfi, S.; Simonelli, F. | |
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies | 1-gen-2017 | Di Iorio, Valentina; Karali, Marianthi; Brunetti-pierri, Raffaella; Filippelli, Mariaelena; Di Fruscio, Giuseppina; Pizzo, Mariateresa; Mutarelli, Margherita; Nigro, Vincenzo; Testa, Francesco; Banfi, Sandro; Simonelli, Francesca | |
Clinical and molecular characterization of achromatopsia patients: A longitudinal study | 1-gen-2021 | Brunetti-Pierri, R.; Karali, M.; Melillo, P.; Di Iorio, V.; De Benedictis, A.; Iaccarino, G.; Testa, F.; Banfi, S.; Simonelli, F. | |
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy | 1-gen-2022 | Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P M; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro | |
Infiltrating giant cell tumor in a case of Paget's disease of bone | 1-gen-2009 | Nuzzo, V.; Ferrara, T.; Zuccoli, A.; Brunetti-Pierri, R.; De Rosa, R.; Falchetti, A.; Franco, R.; Brunetti-Pierri, N.; Brunetti Pierri, Raffaella | |
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy | 1-gen-2017 | Testa, Francesco; Filippelli, Mariaelena; Brunetti-Pierri, Raffaella; Di Fruscio, Giuseppina; Di Iorio, Valentina; Pizzo, Mariateresa; Torella, Annalaura; Barillari, Maria Rosaria; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Simonelli, Francesca; Banfi, Sandro | |
Post-operative results of corneal collagen cross-linking for progressive keratoconus | 1-gen-2012 | Rossi, Settimio; Testa, Francesco; Santamaria, C; Orrico, A; Boccia, R; BRUNETTI PIERRI, R; D’Alterio, F. M.; Simonelli, Francesca; DE ROSA, Giuseppe; Brunetti Pierri, Raffaella | |
Prevalence of macular abnormalities assessed by Optical Coherence Tomography in patients with Usher Syndrome | 1-gen-2016 | Gallo, Beatrice; Colucci, Raffaella; De Benedictis, Antonella; Brunetti-Pierri, Raffaella; Melillo, Paolo; Rossi, Settimio; Testa, Francesco; Azzolini, Claudio; Della Corte, Michele; Simonelli, Francesca; Brunetti Pierri, Raffaella | |
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome | 1-gen-2018 | Testa, Francesco; Melillo, Paolo; Rossi, Settimio; Marcelli, Vincenzo; de Benedictis, Antonella; Colucci, Raffaella; Gallo, Beatrice; Brunetti Pierri, Raffaella; Donati, Simone; Azzolini, Claudio; Marciano, Elio; Simonelli, Francesca | |
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 | 1-gen-2019 | Cappuccio, Gerarda; Brunetti-Pierri, Raffaella; Torella, Annalaura; Pinelli, Michele; Castello, Raffaele; Casari, Giorgio; Nigro, Vincenzo; Banfi, Sandro; Simonelli, Francesca; Brunetti-Pierri, Nicola | |
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations | 1-gen-2020 | Di Iorio, Valentina; Karali, Marianthi; Melillo, Paolo; Testa, Francesco; Brunetti-Pierri, Raffaella; Musacchia, Francesco; Condroyer, Christel; Neidhardt, John; Audo, Isabelle; Zeitz, Christina; Banfi, Sandro; Simonelli, Francesca | |
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: A case report | 1-gen-2012 | Rossi, S; Testa, F; Gargiulo, A; Di Iorio, V; Brunetti Pierri, R; D'Alterio, Fm; Corte, Md; Surace, E; Simonelli, F. | |
Voretigene neparvovec gene therapy in clinical practice: treatment of the first two italian pediatric patients | 1-gen-2021 | Testa, F.; Melillo, P.; della Corte, M.; Di Iorio, V.; Brunetti Pierri, R.; Citro, A.; Ferrara, M.; Karali, M.; Annibale, R.; Banfi, S.; Rossi, S.; Simonelli, F. |