Sfoglia per Autore
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome
2013-01-01 Calì,F;Failla,P;Chiavetta,V;Ragalmuto,A;Ruggeri,G;Schinocca,P;Schepis,C;Romano,V;Romano,C
Copy Number Variants and microRNAs in Autism Spectrum Disorders: a whole-genome analysis
2014-01-01 Marrale, M; Albanese, NN; Calì, F; Romano, V.
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation
2014-01-01 Marrale, M; Albanese, N.N; Francesco Calı`, F; Romano, V
Carrier screening for spinal muscular atrophy in Italian population
2014-01-01 Calì,F;Ruggeri,G;Chiavetta,V;Scuderi,C;Bianca,S;Barone,C;Ragalmuto,A;Schinocca,P;Vitello,GA; Romano,V;Musumeci,S
Ancient human genomes suggest three ancestral populations for present-day Europeans
2014-01-01 Lazaridis,I; Patterson,P;Mittnik,A;Renaud,G; Mallick,S;Kirsanow,K;Sudmant,PH;Schraiber,JG;Castellano,S;Lipson,M;Berger,B;Economou,C; Bollongino,R;Fu,Q;Bos,KI;Nordenfelt,S;Li,H; De Filippo,C;Pruefer,K;Sawyer,;Posth,C; Haak1,H;Hallgren,F;Fornander,E;Rohland,N; Delsate,D;Francken,M;Guinet,JM;Wah,J;Ayodo,G;Babiker,HA;Bailliet,G;Balanovska,E;Balanovsky,O;Barrantes,R;Bedoya,G;Ben-Ami,H;Bene,J;Berrada,F;Bravi,CM;Brisighelli,F;Busby,GBJ;Cali,F;Churnosov,M;Cole,DEC;Corach,D;Damba,L;van Driem,G;Dryomov,S;Dugoujon,JM; Fedorova,SA; Gallego Romero,I;Gubina,M;Hammer,M;Henn,BM; Hervig,T;Hodoglugi,U;Jha,AR;Karachanak-Yankova,S;Khusainova,R;Khusnutdinova,E; Kittles,R:Kivisild,T;Klitz,W;Kucˇinskas,V;Kushniarevich,A;Laredj,L;Litvinov,S;Loukidis,T; Mahley,RW;Melegh,B;Metspalu,E;Molina,J; Mountain,J;Na¨kka¨la¨ja¨rvi,K;Nesheva,D;Nyambo,T;Osipova,L;Parik,J;Platonov,F;Posukh,O; Romano,V;Rothhammer,F;Rudan,I;Ruizbakiev,R; Sahakyan,H;Sajantila,A;Salas,A;Starikovskaya,EB;Tarekegn,A;Toncheva,D;Turdikulova,S;Uktveryte,I;Utevska,O;Vasquez,R;Villena,M;Voevoda,M;Winkler,CA;Yepiskoposyan,L;Zalloua,P;Zemunik,T;Cooper;Capelli,C;Thomas,MG;Ruiz-inares,A; Tishkoff,SA;Singh,L;Thangaraj,K;Villems,R; Comas,D;Sukernik,R;Metspalu,M;Meyer,M;Eichler,EE;Burger,J;Slatkin,M;Pa¨a¨bo,S;Kelso,J; Reich,D;Krause,J
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.
2015-10-05 Busby, G.; Hellenthal, G.; Montinaro, F.; Tofanelli, S.; Bulayeva, K.; Rudan, I.; Zemunik, T.; Hayward, C.; Toncheva, D.; Karachanak-Yankova, S.; Nesheva, D.; Anagnostou, P.; Cali, F.; Brisighelli, F.; Romano, V.; Lefranc, G.; Buresi, C.; Ben Chibani, J.; Haj-Khelil, A.; Denden, S.; Ploski, R.; Krajewski, P.; Hervig, T.; Moen, T.; Herrera, R.; Wilson, J.; Myers, S.; Capelli, C.
Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis
2016-01-01 Calì, F.; Mandarà, G.; Ruggeri, G.; Romano, C.; Chiavetta, V.; Ragalmuto, A.; Salluzzo, R.; Romano, V.; Tardanico, M.; A, C.
A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.
2016-01-01 Chiavetta, V.; Romano, C.; Calì, F.; Ruggeri, G.; Siragusa, M.; Greco, D.; Romano, V.; Schepis, C.
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily.
2016-01-01 Tofanelli, S.; Brisighelli, F.; Anagnostou, P.; Busby, G.; Ferri, G.; Thomas, M.; Taglioli, L.; Rudan, I.; Zemunik, T.; Hayward, C.; Bolnick, D.; Romano, V.; Cali, F.; Luiselli, D.; Shepherd, G.; Tusa, S.; Facella, A.; Capelli, C.
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
2017-01-01 Calã¬, F.; Chiavetta, V.; Ruggeri, G.; Piccione, M.; Selicorni, A.; Palazzo, D.; Bonsignore, M.; Cereda, A.; Elia, M.; Failla, P.; Figura, M.; Fiumara, A.; Maitz, S.; Luana Mandarà , G.; Mattina, T.; Ragalmuto, A.; Romano, C.; Ruggieri, M.; Salluzzo, R.; Saporoso, A.; Schepis, C.; Sorge, G.; Spanã², M.; Tortorella, G.; Romano, V.
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy
2020-01-01 Vetri L.; Cali F.; Vinci M.; Amato C.; Roccella M.; Granata T.; Freri E.; Solazzi R.; Romano V.; Elia M.
Are mutations in the dhrs9 gene causally linked to epilepsy? A case report
2020-01-01 Cali F.; Elia M.; Vinci M.; Vetri L.; Correnti E.; Trapolino E.; Roccella M.; Vanadia F.; Romano V.
Letter to the Editor Regarding the Article Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy
2020-01-01 Vetri, L; Cali, F; Vinci, M; Amato, C; Roccella, M; Granata, T; Freri, E; Solazzi, R; Romano, V; Elia, M
Boolean Networks: A Primer
2021-01-01 Contino, Salvatore; Bertolazzi, Giorgio; Calì, Francesco; Cantone, Martina; Vera-González, Julio; Romano, Valentino
Archaeogenetics and landscape dynamics in sicily during the holocene: A review
2021-08-24 Romano V.; Catalano G.; Bazan G.; Cali F.; Sineo L.
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene
2022-09-01 Vinci, Mirella; Kursula, Petri; Greco, Donatella; Elia, Maurizio; Vetri, Luigi; Schepis, Carmelo; Chiavetta, Valeria; Donadio, Serena; Roccella, Michele; Carotenuto, Marco; Romano, Valentino; Calì, Francesco
Modeling of Hardy-Weinberg Equilibrium Using Dynamic Random Networks in an ABM Framework
2023-01-01 Riccardo Tarantino; Greta Panunzi; Valentino Romano
| Data di pubblicazione | Titolo | Autori | Tipologia | Autore(i) | File |
|---|---|---|---|---|---|
| 1-gen-2013 | Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome | ROMANO, Valentino + | 01 - Contributo in rivista::1.01 Articolo in rivista | Calì,F;Failla,P;Chiavetta,V;Ragalmuto,A;Ruggeri,G;Schinocca,P;Schepis,C;Romano,V;Romano,C | |
| 1-gen-2014 | Copy Number Variants and microRNAs in Autism Spectrum Disorders: a whole-genome analysis | MARRALE, MaurizioALBANESE, Nadia NinfaROMANO, Valentino + | 10 - Proceedings::Proceedings | Marrale, M; Albanese, NN; Calì, F; Romano, V. | |
| 1-gen-2014 | Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation | MARRALE, MaurizioALBANESE, Nadia NinfaROMANO, Valentino + | 01 - Contributo in rivista::1.01 Articolo in rivista | Marrale, M; Albanese, N.N; Francesco Calı`, F; Romano, V | |
| 1-gen-2014 | Carrier screening for spinal muscular atrophy in Italian population | ROMANO, Valentino + | 01 - Contributo in rivista::1.01 Articolo in rivista | Calì,F;Ruggeri,G;Chiavetta,V;Scuderi,C;Bianca,S;Barone,C;Ragalmuto,A;Schinocca,P;Vitello,GA; Romano,V;Musumeci,S | |
| 1-gen-2014 | Ancient human genomes suggest three ancestral populations for present-day Europeans | ROMANO, Valentino + | 01 - Contributo in rivista::1.01 Articolo in rivista | Lazaridis,I; Patterson,P;Mittnik,A;Renaud,G; Mallick,S;Kirsanow,K;Sudmant,PH;Schraiber,JG;Castellano,S;Lipson,M;Berger,B;Economou,C; Bollongino,R;Fu,Q;Bos,KI;Nordenfelt,S;Li,H; De Filippo,C;Pruefer,K;Sawyer,;Posth,C; Haak1,H;Hallgren,F;Fornander,E;Rohland,N; Delsate,D;Francken,M;Guinet,JM;Wah,J;Ayodo,G;Babiker,HA;Bailliet,G;Balanovska,E;Balanovsky,O;Barrantes,R;Bedoya,G;Ben-Ami,H;Bene,J;Berrada,F;Bravi,CM;Brisighelli,F;Busby,GBJ;Cali,F;Churnosov,M;Cole,DEC;Corach,D;Damba,L;van Driem,G;Dryomov,S;Dugoujon,JM; Fedorova,SA; Gallego Romero,I;Gubina,M;Hammer,M;Henn,BM; Hervig,T;Hodoglugi,U;Jha,AR;Karachanak-Yankova,S;Khusainova,R;Khusnutdinova,E; Kittles,R:Kivisild,T;Klitz,W;Kucˇinskas,V;Kushniarevich,A;Laredj,L;Litvinov,S;Loukidis,T; Mahley,RW;Melegh,B;Metspalu,E;Molina,J; Mountain,J;Na¨kka¨la¨ja¨rvi,K;Nesheva,D;Nyambo,T;Osipova,L;Parik,J;Platonov,F;Posukh,O; Romano,V;Rothhammer,F;Rudan,I;Ruizbakiev,R; Sahakyan,H;Sajantila,A;Salas,A;Starikovskaya,EB;Tarekegn,A;Toncheva,D;Turdikulova,S;Uktveryte,I;Utevska,O;Vasquez,R;Villena,M;Voevoda,M;Winkler,CA;Yepiskoposyan,L;Zalloua,P;Zemunik,T;Cooper;Capelli,C;Thomas,MG;Ruiz-inares,A; Tishkoff,SA;Singh,L;Thangaraj,K;Villems,R; Comas,D;Sukernik,R;Metspalu,M;Meyer,M;Eichler,EE;Burger,J;Slatkin,M;Pa¨a¨bo,S;Kelso,J; Reich,D;Krause,J | |
| 5-ott-2015 | The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape. | Romano Valentino + | 01 - Contributo in rivista::1.01 Articolo in rivista | Busby, G.; Hellenthal, G.; Montinaro, F.; Tofanelli, S.; Bulayeva, K.; Rudan, I.; Zemunik, T.; Hayward, C.; Toncheva, D.; Karachanak-Yankova, S.; Nesheva, D.; Anagnostou, P.; Cali, F.; Brisighelli, F.; Romano, V.; Lefranc, G.; Buresi, C.; Ben Chibani, J.; Haj-Khelil, A.; Denden, S.; Ploski, R.; Krajewski, P.; Hervig, T.; Moen, T.; Herrera, R.; Wilson, J.; Myers, S.; Capelli, C. | |
| 1-gen-2016 | Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis | V. Romano + | 01 - Contributo in rivista::1.01 Articolo in rivista | Calì, F.; Mandarà, G.; Ruggeri, G.; Romano, C.; Chiavetta, V.; Ragalmuto, A.; Salluzzo, R.; Romano, V.; Tardanico, M.; A, C. | |
| 1-gen-2016 | A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease. | Romano V + | 01 - Contributo in rivista::1.01 Articolo in rivista | Chiavetta, V.; Romano, C.; Calì, F.; Ruggeri, G.; Siragusa, M.; Greco, D.; Romano, V.; Schepis, C. | |
| 1-gen-2016 | The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily. | Romano V + | 01 - Contributo in rivista::1.01 Articolo in rivista | Tofanelli, S.; Brisighelli, F.; Anagnostou, P.; Busby, G.; Ferri, G.; Thomas, M.; Taglioli, L.; Rudan, I.; Zemunik, T.; Hayward, C.; Bolnick, D.; Romano, V.; Cali, F.; Luiselli, D.; Shepherd, G.; Tusa, S.; Facella, A.; Capelli, C. | |
| 1-gen-2017 | Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform | PICCIONE, MariaRomano, V. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Calã¬, F.; Chiavetta, V.; Ruggeri, G.; Piccione, M.; Selicorni, A.; Palazzo, D.; Bonsignore, M.; Cereda, A.; Elia, M.; Failla, P.; Figura, M.; Fiumara, A.; Maitz, S.; Luana Mandarà , G.; Mattina, T.; Ragalmuto, A.; Romano, C.; Ruggieri, M.; Salluzzo, R.; Saporoso, A.; Schepis, C.; Sorge, G.; Spanã², M.; Tortorella, G.; Romano, V. | |
| 1-gen-2020 | A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy | Roccella M.Romano V. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Vetri L.; Cali F.; Vinci M.; Amato C.; Roccella M.; Granata T.; Freri E.; Solazzi R.; Romano V.; Elia M. | |
| 1-gen-2020 | Are mutations in the dhrs9 gene causally linked to epilepsy? A case report | Vetri L.Correnti E.Roccella M.Romano V. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Cali F.; Elia M.; Vinci M.; Vetri L.; Correnti E.; Trapolino E.; Roccella M.; Vanadia F.; Romano V. | |
| 1-gen-2020 | Letter to the Editor Regarding the Article Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy | Roccella, MRomano, V + | 01 - Contributo in rivista::1.06 Lettera | Vetri, L; Cali, F; Vinci, M; Amato, C; Roccella, M; Granata, T; Freri, E; Solazzi, R; Romano, V; Elia, M | |
| 1-gen-2021 | Boolean Networks: A Primer | Contino, SalvatoreBertolazzi, GiorgioRomano, Valentino + | 02 - Contributo in volume::2.01 Capitolo o Saggio | Contino, Salvatore; Bertolazzi, Giorgio; Calì, Francesco; Cantone, Martina; Vera-González, Julio; Romano, Valentino | |
| 24-ago-2021 | Archaeogenetics and landscape dynamics in sicily during the holocene: A review | Romano V.Catalano G.Bazan G.Sineo L. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Romano V.; Catalano G.; Bazan G.; Cali F.; Sineo L. | |
| 1-set-2022 | Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene | Vinci, MirellaElia, MaurizioVetri, LuigiDonadio, SerenaRomano, Valentino + | 01 - Contributo in rivista::1.01 Articolo in rivista | Vinci, Mirella; Kursula, Petri; Greco, Donatella; Elia, Maurizio; Vetri, Luigi; Schepis, Carmelo; Chiavetta, Valeria; Donadio, Serena; Roccella, Michele; Carotenuto, Marco; Romano, Valentino; Calì, Francesco | |
| 1-gen-2023 | Modeling of Hardy-Weinberg Equilibrium Using Dynamic Random Networks in an ABM Framework | Riccardo TarantinoValentino Romano + | 02 - Contributo in volume::2.07 Contributo in atti di convegno pubblicato in volume | Riccardo Tarantino; Greta Panunzi; Valentino Romano |
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