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Titolo Data di pubblicazione Autore(i) File
Two non-homologous co-regulated genes PDCD10 and SERPINI1: any possible related function? 1-gen-2014 C. Scimone; C. Rinaldi; A. Ruggeri; L. Donato; R. D'Angelo; A. Sidoti
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.
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
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
Novel intronic variants in unconventional gene cluster could lead to Retinitis pigmentosa phenotype 1-gen-2017 Donato, Luigi
‘Role of neurodevelopment involved genes in psychiatric comorbidities and modulation of inflammatory processes in Alzheimer's disease’ (J. Neurol. Sci. (2016) 370 (162–166)(S0022510X16306189)(10.1016/j.jns.2016.09.053)) 1-gen-2017 Porcelli, Stefano; Crisafulli, Concetta; Donato, Luigi; Calabro', Marco; Politis, Antonis; Liappas, Ioannis; Albani, Diego; Atti, Anna Rita; Salfi, Raffaele; Raimondi, Ilaria; Forloni, Gianluigi; Papadimitriou, George N.; De Ronchi, Diana; Serretti, Alessandro
Nine differentially expressed genes from a post mortem study and their association with suicidal status in a sample of suicide completers, attempters and controls 1-gen-2017 Balestri, Martina; Crisafulli, Concetta; Donato, Luigi; Giegling, Ina; Calati, Raffaella; Antypa, Niki; Schneider, Barbara; Marusic, Dragan; Tarozzi, Maria Eugenia; Marusic, Dorjan; Paragi, Metka; Hartmann, Annette M.; Konte, Bettina; Marsano, Agnese; Serretti, Alessandro; Rujescu, Dan
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data 1-gen-2017 D'Angelo, Rosalia; Donato, Luigi; Venza, Isabella; Scimone, Concetta; Aragona, Pasquale; 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
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance 1-gen-2018 Scimone, Concetta; Donato, Luigi; Katsarou, Zoe; Bostantjopoulou, Sevasti; D'Angelo, Rosalia; Sidoti, Antonina
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.
Bioinformatic analysis of a “functional cluster” probably related to retinitis pigmentosa 1-gen-2018 Donato, L.; Denaro, L.
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.
Trimethylaminuria: do abnormal chaperons play a pathogenic role? 1-gen-2018 D’Angelo, Rosalia; Scimone, C; Donato, L; Esposito, T; Cappello, F; Macario, Ajl; Conway de Macario, E; 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
Mostrati risultati da 1 a 20 di 47
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