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Titolo Data di pubblicazione Autore(i) File
Molecular analysis of CCM genes promoter regions 1-gen-2011 R. D’Angelo; C. Rinaldi; C. Scimone; M. Calabrò; A. Ruggeri; C. Crisafulli; A. Sidoti; A. Amato
FMO3 allelic variants in a Mediterranean population frequency and linkage analysis. 1-gen-2011 D’Angelo R.; Calabrò M.; Scimone C.; Crisafulli C.; Esposito T.; Varriale B.; Amato A;Sidoti A.
NOVEL PDCD10 PROMOTER VARIANTS IN PATIENTS WITH CEREBRAL CAVERNOUSMALFORMATIONS 1-gen-2012 R. D’ Angelo; A. Ruggeri; C. Scimone; C. Crisafulli; M. Calabrò; C. Rinaldi; A. Sidoti
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
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation? 1-gen-2013 D'Angelo, Rosalia; Scimone, Concetta; Marco, Calabrò; Carla, Schettino; Mario, Fratta; Sidoti, Antonina
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients 1-gen-2013 D'Angelo, Rosalia; Alafaci, Concetta; Scimone, C; Ruggeri, Alessia; Salpietro, Francesco; Bramanti, Placido; Tomasello, Francesco; Sidoti, Antonina
PON I and GLO I Gene Polymorphisms and Their Association with Breast Cancer: A Case-Control Study in a Population from Southern Italy 1-gen-2014 Carmela Rinaldi; Rosalia D'Angelo; Alessia Ruggeri; Marco Calabrò; Concetta Scimone; Antonina Sidoti
Transcriptome wide investigation of parent-of-origin expressed genes in mule (horse x donkey) by next-generation semiconductor-based sequencing 1-gen-2014 Bertolini F.; D'Alessandro E.; Schiavo G.; Greco I.; Scimone C.; Ghionda M.; Martelli P.; Casadio R.; Chiofalo V.; Fontanesi L.
A MOLECULAR- GENETIC ANALYSIS OF FLAVIN-CONTAINING MONOOXYGENASE3 GENE (FMO3) IN AN ITALIAN CHILD WITH A TMAURIA LIKE-PHENOTYPE 1-gen-2014 C. Scimone; A. Ruggeri; D. Bruschetta; C. Rinaldi; R. D'Angelo; A. Sidoti
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
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.
Next generation semiconductor based sequencing of the donkey (Equus asinus) genome provided comparative sequence data against the horse genome and a few millions of single nucleotide polymorphisms 1-gen-2015 Bertolini, Francesca; Scimone, Concetta; Geraci, Claudia; Schiavo, Giuseppina; Joe Utzer, Valerio; Chiofalo, Vincenzo; Fontanesi, Luca
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
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
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
Mostrati risultati da 1 a 20 di 52
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