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Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report 1-gen-2014 D'Angelo, Rosalia; Scimone, Concetta; Teresa, Esposito; Bruschetta, Daniele; Rinaldi, Carmela; Alessia, Ruggeri; 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.
The Combination of New Missense Mutation with [A(TA)7TAA] Dinucleotide Repeat in UGT1A1 Gene Promoter Causes Gilbert's Syndrome 1-gen-2015 D'Angelo, Rosalia; Rinaldi, Carmela; Donato, Luigi; Nicocia, Giacomo; Sidoti, Antonina
Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms in Italian patients with sporadic cerebral cavernous malformations: a pilot study 1-gen-2015 Rinaldi, Carmela; Bramanti, Placido; Famà, A.; Scimone, C.; Donato, L.; Antognelli, C.; Alafaci, Concetta; Tomasello, Francesco; D'Angelo, Rosalia; Sidoti, Antonina
First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation 1-gen-2016 Scimone, Concetta; Donato, Luigi; Rinaldi, Carmela; Sidoti, Antonina; D'Angelo, Rosalia
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
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations 1-gen-2017 Rinaldi, Carmela; Bramanti, Placido; Scimone, Concetta; Donato, Luigi; Alafaci, Concetta; D'Angelo, Rosalia; Sidoti, Antonina
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations 1-gen-2017 Scimone, Concetta; Bramanti, Placido; Alafaci, Concetta; Granata, Francesca; Piva, Francesco; Rinaldi, Carmela; Donato, Luigi; Greco, Federica; Sidoti, Antonina; D'Angelo, Rosalia
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
Quantification of trimethylamine (TMA) and trimethylamine oxide (TMAO) for diagnostic and targeted diet purposes. 1-gen-2018 Anchesi, I; Sidoti, A; La Torre, Gl; Salvo, A; Scimone, C; Donato, L; Rinaldi, C; D’Angelo, Rosalia; Dugo, G; Rotondo, A.
miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions 1-gen-2018 Donato, L; Bramantì, P; Scimone, C; Rinaldi, C; Giorgianni, F; Beranova‐Giorgianni, S; Diwa Koirala, C; D'Angelo, R; Sidoti, A.
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 1-gen-2018 DONATO, Luigi; SCIMONE, CONCETTA; RINALDI, Carmela; ARAGONA, Pasquale; BRIUGLIA, Silvana; D'ASCOLA, Angela; D'ANGELO, Rosalia; SIDOTI, Antonina
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
An intronic variant in PTEN gene is probably involved in splicing alteration events 1-gen-2019 Rinaldi, Carmela; Freni, Josè
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.
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa 1-gen-2020 Donato, Luigi; Scimone, Concetta; Alibrandi, Simona; Rinaldi, Carmela; Sidoti, Antonina; D'Angelo, Rosalia
Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies 1-gen-2020 Donato, Luigi; D'Angelo, Rosalia; Alibrandi, Simona; Rinaldi, Carmela; Sidoti, Antonina; Scimone, Concetta
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations 1-gen-2020 Scimone, Concetta; Donato, Luigi; Alafaci, Concetta; Granata, Francesca; Rinaldi, Carmela; Longo, Marcello; D'Angelo, Rosalia; Sidoti, Antonina
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
The biological pathways of Alzheimer disease: a review 1-gen-2021 Calabro', Marco; Rinaldi, Carmela; Santoro, Giuseppe; Crisafulli, Concetta
Mostrati risultati da 41 a 60 di 68
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