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Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis 1-gen-2016 Salvi, Alessandro; Giacopuzzi, Edoardo; Bardellini, Elena; Amadori, Francesca; Ferrari, Lia; DE PETRO, Giuseppina; Borsani, Giuseppe; Majorana, Alessandra
Genome-wide analysis of RNA-editing levels in human blood identified interactions with mRNA processing genes and suggested correlation with biological and drug-related variables 1-gen-2017 Giacopuzzi, Edoardo; Gennarelli, Massimo; Barbon, Alessandro
Genome-wide analysis of RNA-editing levels in human blood identifies interactions with mRNA processing genes and suggests correlation with biological and drug-related variables 1-gen-2017 Giacopuzzi, E; Magri, C; Gennarelli, M; Barbon, A
The impairment of GABAergic pathway as one of the driver forces in the etiopathogenesis of schizophrenia: evidence from functional studies and gene-set enrichment analyses 1-gen-2017 Magri, Chiara; Giacopuzzi, Edoardo; La Via, L.; Bonini, D.; Ravasio, V.; Elhussiny, M. E. A.; Valsecchi, P.; Bresciani, R.; Barbon, A.; Vita, A.; Gennarelli, M.
New biological pathways for major depression: gene expression decomposition in G x E components 1-gen-2017 Sacco, Chiara; Giacopuzzi, E; Gennarelli, M; Magri, C
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 1-gen-2017 Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Carini, Giulia; Cinquina, Valeria; Chiarelli, Nicola; Majore, Silvia; Colombi, Marina; Castori, Marco
Functional study of a novel homozygous mutation in the GAD1 gene, detected in a patient with schizophrenia. 1-gen-2017 Magri, Chiara; Giacopuzzi, Edoardo; Barbon, Alessandro; La Via, Luca; Congiu, Chiara; Orizio, Flavia; Ferraboli, Sergio; Bresciani, Roberto; Borsani, Giuseppe; Sacchetti, Emilio; Gennarelli, Massimo
Genomic and biochemical characterization of sialic acid acetylesterase (siae) in zebrafish 1-gen-2017 Ravasio, Viola; Damiati, Eufemia; Zizioli, Daniela; Orizio, Flavia; Giacopuzzi, Edoardo; Manzoni, Marta; Bresciani, Roberto; Borsani, Giuseppe; Monti, Eugenio
Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways 1-gen-2017 Giacopuzzi, Edoardo; Gennarelli, Massimo; Minelli, Alessandra; Gardella, Rita; Valsecchi, Paolo; Traversa, Michele; Bonvicini, Cristian; Vita, Antonio; Sacchetti, Emilio; Magri, Chiara
The effect of childhood trauma on blood transcriptome expression in major depressive disorder 1-gen-2017 Minelli, Alessandra; Magri, Chiara; Giacopuzzi, Edoardo; Gennarelli, Massimo
Mesenchymal stromal cells (MSCs) induce ex vivo proliferation and erythroid commitment of cord blood haematopoietic stem cells (CB-CD34+ cells) 1-gen-2017 Perucca, Simone; DI PALMA, Andrea; Piccaluga, Pier Paolo; Gemelli, Claudia; Zoratti, Elisa; Bassi, Giulio; Giacopuzzi, Edoardo; Lojacono, Andrea; Borsani, Giuseppe; Tagliafico, Enrico; Scupoli, Maria Teresa; Bernardi, Simona; Zanaglio, Camilla; Cattina, Federica; Cancelli, Valeria; Malagola, Michele; Krampera, Mauro; Marini, Mirella; Almici, Camillo; Ferrari, Sergio; Russo, Domenico
Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing 1-gen-2017 Ritelli, Marco; Palit, Aparna; Giacopuzzi, Edoardo; Inamadar, Arun C.; Dordoni, Chiara; Mujja, Ajay; Murgude, Meghana S.; Colombi, Marina
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency 1-gen-2018 Giacopuzzi, Edoardo; Laffranchi, Mattia; Berardelli, Romina; Ravasio, Viola; Ferrarotti, Ilaria; Gooptu, Bibek; Borsani, Giuseppe; Fra, Annamaria
GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS 1-gen-2018 Ravasio, V.; Ritelli, M.; Legati, A.; Giacopuzzi, E.
A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme 1-gen-2018 Magri, Chiara; Giacopuzzi, Edoardo; LA VIA, Luca; Bonini, Daniela; Ravasio, Viola; Elhussiny, MOHAMMED ELHUSSINY ALI; Orizio, Flavia; Gangemi, Fabrizio; Valsecchi, Paolo; Bresciani, Roberto; Barbon, Alessandro; Vita, Antonio; Gennarelli, Massimo
The effect of childhood trauma on blood transcriptome expression in major depressive disorder 1-gen-2018 Minelli, A.; Magri, C; Giacopuzzi, E.; Gennarelli, M
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain 1-gen-2018 Filippini, Alice; Bonini, Daniela; Giacopuzzi, Edoardo; La Via, Luca; Gangemi, Fabrizio; Colombi, Marina; Barbon, Alessandro
Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables 1-gen-2018 Giacopuzzi, Edoardo; Gennarelli, Massimo; Sacco, Chiara; Filippini, Alice; Mingardi, Jessica; Magri, Chiara; Barbon, Alessandro
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 1-gen-2018 Ritelli, Marco Giuseppe; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco
Analysis of Citalopram response heterogeneity among STAR*D patients using in-silico methods 1-gen-2019 Shoaib, Muhammad; Giacopuzzi, Edoardo; Magri, Chiara; Vitali, Erika; Minelli, Alessandra; Gennarelli, Massimo
Mostrati risultati da 21 a 40 di 48
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