SCIMONE, Concetta
SCIMONE, Concetta
Dipartimento di Scienze biomediche, odontoiatriche e delle immagini morfologiche e funzionali
A MOLECULAR- GENETIC ANALYSIS OF FLAVIN-CONTAINING MONOOXYGENASE3 GENE (FMO3) IN AN ITALIAN CHILD WITH A TMAURIA LIKE-PHENOTYPE
2014-01-01 Scimone, C.; Ruggeri, Alessia; Bruschetta, Daniele; Rinaldi, Carmela; D'Angelo, Rosalia; Sidoti, Antonina
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens
2017-01-01 Scimone, Concetta; Donato, Luigi; Esposito, Teresa; Rinaldi, Carmela; D'Angelo, Rosalia; Sidoti, Antonina
A rare case of TMAU associated with suspected Currarino triad
2015-01-01 Scimone, C; Rinaldi, C; Nicocia, G; Greco, F; Donato, L; D'Angelo, Rosalia; Sidoti, A.
Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations
2021-01-01 Scimone, Concetta; D'Angelo, Rosalia; Alibrandi, Simona; Nicita, Fabiana; Donato, Luigi; Sidoti, Antonina
Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes
2021-01-01 Alibrandi, Simona; Nicita, Fabiana; Donato, Luigi; Scimone, Concetta; Rinaldi, Carmela; D’Angelo, Rosalia; Sidoti, Antonina
Advances in Bioinformatics, Biostatistics and Omic Sciences
2020-01-01 Donato, Luigi; Alibrandi, Simona; D’Angelo, Rosalia; Scimone, Concetta; Sidoti, Antonina; Costa, Alessandra
Aged fingerprints for DNA profile: First report of successful typing
2019-01-01 Giovanni Romano, Carlo; Mangiaracina, Rosaria; Donato, Luigi; D'Angelo, Rosalia; Scimone, Concetta; Sidoti, Antonina
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells
2023-01-01 Scimone, Concetta; Alibrandi, Simona; Donato, Luigi; DE GAETANO, Giuseppe Valerio; Fusco, Carmela; Nardella, Grazia; Castori, Marco; Rinaldi, Carmela; Alafaci, Concetta; Antonino, Germano`; D'Angelo, Rosalia; Sidoti, Antonina
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin
2021-01-01 Scimone, Concetta; Alibrandi, Simona; Donato, Luigi; Giofre', Salvatore Vincenzo; Rao, Giacomo; Sidoti, Antonina; D'Angelo, Rosalia
Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: A pilot study
2019-01-01 Donato, L.; Scimone, C.; Rinaldi, C.; D'Angelo, R.; Sidoti, A.
Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini’s Disease and Retinal Dystrophies
2023-01-01 Donato, Luigi; Mordà, Domenico; Scimone, Concetta; Alibrandi, Simona; D'Angelo, Rosalia; Sidoti, Antonina
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: A case-control study.
2012-01-01 D'Angelo, Rosalia; Scimone, C; Rinaldi, Carmela; Trimarchi, Giuseppe; Italiano, D; Bramanti, Placido; Amato, Aldo; Sidoti, Antonina
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
2016-01-01 Scimone, Concetta; Bramanti, Placido; Ruggeri, Alessia; Donato, Luigi; Alafaci, Concetta; Crisafulli, Concetta; Mucciardi, Massimo; Rinaldi, Carmela; Sidoti, Antonina; D'Angelo, Rosalia
Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy.
2025-01-01 Alibrandi, Simona; Scimone, Concetta; Abate, Giorgia; Zaccaria Scalinci, Sergio; Sidoti, Antonina; Donato, Luigi
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs
2022-01-01 Scimone, Concetta; Donato, Luigi; Alibrandi, Simona; Alafaci, Concetta; D'Ascola, Angela; Vinci, Sergio Lucio; D'Angelo, Rosalia; Sidoti, Antonina
Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity
2025-01-01 Mordà, Domenico; Alibrandi, Simona; Scimone, Concetta; Rinaldi, Carmela; Zaccaria Scalinci, Sergio; Abate, Giorgia; D'Angelo, Rosalia; Sidoti, Antonina; Donato, Luigi
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations
2015-01-01 Scimone, Concetta; Bramanti, Placido; Ruggeri, Alessia; Katsarou, Zoe; Donato, Luigi; Sidoti, Antonina; D'Angelo, Rosalia
Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa
2020-01-01 Donato, Luigi; Scimone, Concetta; Alibrandi, Simona; Nicocia, Giacomo; Rinaldi, Carmela; Sidoti, Antonina; D’Angelo, Rosalia
Down-expression of RHO gene in Egyptian patient with three regulative region variants could lead to retinitis punctata albescens phenotype
2019-01-01 Donato, Luigi; Scimone, Concetta; Alibrandi, Simona; Rinaldi, Carmela; D'Angelo, Rosalia; Sidoti, Antonina
Editome landscape of CCM-derived endothelial cells
2022-01-01 Scimone, Concetta; Alibrandi, Simona; Donato, Luigi; Alafaci, Concetta; Germanò, Antonino; Vinci, Sergio Lucio; D'Angelo, Rosalia; Sidoti, Antonina.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A MOLECULAR- GENETIC ANALYSIS OF FLAVIN-CONTAINING MONOOXYGENASE3 GENE (FMO3) IN AN ITALIAN CHILD WITH A TMAURIA LIKE-PHENOTYPE | 1-gen-2014 | Scimone, C.; Ruggeri, Alessia; Bruschetta, Daniele; Rinaldi, Carmela; D'Angelo, Rosalia; Sidoti, Antonina | |
| A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens | 1-gen-2017 | Scimone, Concetta; Donato, Luigi; Esposito, Teresa; Rinaldi, Carmela; D'Angelo, Rosalia; Sidoti, Antonina | |
| A rare case of TMAU associated with suspected Currarino triad | 1-gen-2015 | Scimone, C; Rinaldi, C; Nicocia, G; Greco, F; Donato, L; D'Angelo, Rosalia; Sidoti, A. | |
| Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations | 1-gen-2021 | Scimone, Concetta; D'Angelo, Rosalia; Alibrandi, Simona; Nicita, Fabiana; Donato, Luigi; Sidoti, Antonina | |
| Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes | 1-gen-2021 | Alibrandi, Simona; Nicita, Fabiana; Donato, Luigi; Scimone, Concetta; Rinaldi, Carmela; D’Angelo, Rosalia; Sidoti, Antonina | |
| Advances in Bioinformatics, Biostatistics and Omic Sciences | 1-gen-2020 | Donato, Luigi; Alibrandi, Simona; D’Angelo, Rosalia; Scimone, Concetta; Sidoti, Antonina; Costa, Alessandra | |
| Aged fingerprints for DNA profile: First report of successful typing | 1-gen-2019 | Giovanni Romano, Carlo; Mangiaracina, Rosaria; Donato, Luigi; D'Angelo, Rosalia; Scimone, Concetta; Sidoti, Antonina | |
| Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells | 1-gen-2023 | Scimone, Concetta; Alibrandi, Simona; Donato, Luigi; DE GAETANO, Giuseppe Valerio; Fusco, Carmela; Nardella, Grazia; Castori, Marco; Rinaldi, Carmela; Alafaci, Concetta; Antonino, Germano`; D'Angelo, Rosalia; Sidoti, Antonina | |
| Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin | 1-gen-2021 | Scimone, Concetta; Alibrandi, Simona; Donato, Luigi; Giofre', Salvatore Vincenzo; Rao, Giacomo; Sidoti, Antonina; D'Angelo, Rosalia | |
| Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: A pilot study | 1-gen-2019 | Donato, L.; Scimone, C.; Rinaldi, C.; D'Angelo, R.; Sidoti, A. | |
| Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini’s Disease and Retinal Dystrophies | 1-gen-2023 | Donato, Luigi; Mordà, Domenico; Scimone, Concetta; Alibrandi, Simona; D'Angelo, Rosalia; Sidoti, Antonina | |
| CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: A case-control study. | 1-gen-2012 | D'Angelo, Rosalia; Scimone, C; Rinaldi, Carmela; Trimarchi, Giuseppe; Italiano, D; Bramanti, Placido; Amato, Aldo; Sidoti, Antonina | |
| CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. | 1-gen-2016 | Scimone, Concetta; Bramanti, Placido; Ruggeri, Alessia; Donato, Luigi; Alafaci, Concetta; Crisafulli, Concetta; Mucciardi, Massimo; Rinaldi, Carmela; Sidoti, Antonina; D'Angelo, Rosalia | |
| Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy. | 1-gen-2025 | Alibrandi, Simona; Scimone, Concetta; Abate, Giorgia; Zaccaria Scalinci, Sergio; Sidoti, Antonina; Donato, Luigi | |
| Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs | 1-gen-2022 | Scimone, Concetta; Donato, Luigi; Alibrandi, Simona; Alafaci, Concetta; D'Ascola, Angela; Vinci, Sergio Lucio; D'Angelo, Rosalia; Sidoti, Antonina | |
| Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity | 1-gen-2025 | Mordà, Domenico; Alibrandi, Simona; Scimone, Concetta; Rinaldi, Carmela; Zaccaria Scalinci, Sergio; Abate, Giorgia; D'Angelo, Rosalia; Sidoti, Antonina; Donato, Luigi | |
| Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations | 1-gen-2015 | Scimone, Concetta; Bramanti, Placido; Ruggeri, Alessia; Katsarou, Zoe; Donato, Luigi; Sidoti, Antonina; D'Angelo, Rosalia | |
| Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa | 1-gen-2020 | Donato, Luigi; Scimone, Concetta; Alibrandi, Simona; Nicocia, Giacomo; Rinaldi, Carmela; Sidoti, Antonina; D’Angelo, Rosalia | |
| Down-expression of RHO gene in Egyptian patient with three regulative region variants could lead to retinitis punctata albescens phenotype | 1-gen-2019 | Donato, Luigi; Scimone, Concetta; Alibrandi, Simona; Rinaldi, Carmela; D'Angelo, Rosalia; Sidoti, Antonina | |
| Editome landscape of CCM-derived endothelial cells | 1-gen-2022 | Scimone, Concetta; Alibrandi, Simona; Donato, Luigi; Alafaci, Concetta; Germanò, Antonino; Vinci, Sergio Lucio; D'Angelo, Rosalia; Sidoti, Antonina. |