Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome
2008-01-01 Di Gaetano, Cornelia; Cerutti, Nicoletta; Crobu, Francesca; Robino, Carlo; Inturri, Serena; Gino, Sarah; Guarrera, Simonetta; Underhill, Peter A; King, Roy J; Romano, Valentino; Cali, Francesco; Gasparini, Mauro; Matullo, Giuseppe; Salerno, Alfredo; Torre, Carlo; Piazza, Alberto
Molecular basis of mild hyperphenylalaninaemia in Turkey
2000-01-01 Yilmaz, E.; Cali, F.; Romano, V.; Özalp, I.; Coşkun, T.; Tokatli, A.; Kalkanoğlu, H. S.; Özgüç, M.
Mutations and polymorphisms of the PAH gene in Sicily: comparison with other DNA polymorphisms
2000-01-01 Romano, V.; Calì, F.; Ayala, G. F.; De Leo, G.; D'Anna, R. P.; Flugý, A.; D'Anna, C.; Bonanno, C. T.; Salerno, A.; Matullo, G.; Piazza, A.
Towards a genetic history of Sicily
2000-01-01 Piazza, Alberto; Matullo, G.; Romano, V.; Ayala, G. F.; Bonanno, C. T.; Calì, F.; D'Anna, C.; D'Anna, R.; De Leo, G.; Giambalvo, O.; Guarrera, S.; Guglielmino, C. R.; Salerno, A.; Zei, G.
The phenylketonuria mouse model: a meeting review
2002-01-01 David Mcdonald, J; Andriolo, Maria; Calì, Francesco; Mirisola, Mario; Puglisi-Allegra, Stefano; Romano, Valentino; Sarkissian, Christineh N; Smith, Carolyn B
Tracing European Founder Lineages in the Near Eastern mtDNA Pool
2000-01-01 Richards, Martin; Macaulay, Vincent; Hickey, Eileen; Vega, Emilce; Sykes, Bryan; Guida, Valentina; Rengo, Chiara; Sellitto, Daniele; Cruciani, Fulvio; Kivisild, Toomas; Villems, Richard; Thomas, Mark; Rychkov, Serge; Rychkov, Oksana; Rychkov, Yuri; Gölge, Mukaddes; Dimitrov, Dimitar; Hill, Emmeline; Bradley, Dan; Romano, Valentino; Calì, Francesco; Vona, Giuseppe; Demaine, Andrew; Papiha, Surinder; Triantaphyllidis, Costas; Stefanescu, Gheorghe; Hatina, Jiři; Belledi, Michele; Di Rienzo, Anna; Novelletto, Andrea; Oppenheim, Ariella; Nørby, Søren; Al-Zaheri, Nadia; Santachiara-Benerecetti, Silvana; Scozzari, Rosaria; Torroni, Antonio; Bandelt, Hans-Jürgen
Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders
2025-01-01 Vinci, Mirella; Greco, Donatella; Treccarichi, Simone; Musumeci, Antonino; Gloria, Angelo; Federico, Concetta; Saccone, Salvatore; Calì, Francesco; Sirrs, Sandra
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy
2025-01-01 Musumeci, Antonino; Vinci, Mirella; Verbinnen, Iris; Treccarichi, Simone; Nigliato, Eleonora; Chiavetta, Valeria; Greco, Donatella; Vitello, Girolamo Aurelio; Federico, Concetta; Janssens, Veerle; Saccone, Salvatore; Calì, Francesco
Cell line DNA typing in forensic genetics—the necessity of reliable standards
2003-01-01 Szibor, Reinhard; Edelmann, Jeanett; Hering, Sandra; Plate, Ines; Wittig, Holger; Roewer, Lutz; Wiegand, Peter; Calì, Francesco; Romano, Valentino; Michael, Matthias
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes
2009-01-01 Salemi, Michele; Romano, Corrado; Barone, Concetta; Calì, Francesco; Caraci, Filippo; Romano, Carmelo; Scavuzzo, Cataldo; Scillato, Francesco; Salluzzo, Maria Grazia; Piccione, Maria; Martines, Manuela; Corsello, Giovanni; Nicoletti, Ferdinando; Bosco, Paolo
Carrier screening for spinal muscular atrophy in Italian population
2014-01-01 Cali, Francesco; Ruggeri, Giuseppa; Chiavetta, Valeria; Scuderi, Carmela; Bianca, Sebastiano; Barone, Chiara; Ragalmuto, Alda; Schinocca, Pietro; Vitello, Girolamo Aurelio; Romano, Valentino; Musumeci, Sebastiano
mtDNA analysis of the human remains buried in the sarcophagus of Federico II
2005-01-01 Salerno, Alfredo; Lago, Giampietro; Berti, Andrea; Cali, Francesco; Mirisola, Mario; Carta, Patrizia; Ferro, Carmen; Romano, Valentino
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder
2023-01-01 Nicotera, Antonio Gennaro; Amore, Greta; Saia, Maria Concetta; Vinci, Mirella; Musumeci, Antonino; Chiavetta, Valeria; Federico, Concetta; Spoto, Giulia; Saccone, Salvatore; Di Rosa, Gabriella; Cali, Francesco
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape
2015-01-01 Georgebj, Busby; Garrett, Hellenthal; Francesco, Montinaro; Sergio, Tofanelli; Kazima, Bulayeva; Igor, Rudan; Tatijana, Zemunik; Caroline, Hayward; Draga, Toncheva; Sena, Karachanak-Yankova; Desislava, Nesheva; Paolo, Anagnostou; Cali', Francesco; Francesca, Brisighelli; Valentino, Romano; Gerard, Lefranc; Catherine, Buresi; Ben , ; Jemni, Chibani; Amel, Haj-Khelil; Sabri, Denden; Rafal, Ploski; Pawel, Krajewski; Tor, Hervig; Torolf, Moen; Rene , Herrera; James , Wilson; Simon, Myers; Cristian, Capelli
Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset
2020-01-01 Costanzo, Maria Cristina; Nicotera, Antonio Gennaro; Vinci, Mirella; Vitello, Aurelio; Fiumara, Agata; Cali, Francesco; Musumeci, Sebastiano Antonino
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis
2018-01-01 Vinci, Mirella; Fichera, Marco; Musumeci, Sebastiano Antonino; Cali, Francesco; Vitello, Girolamo Aurelio
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
2003-01-01 Tighe, Orna; Dunican, Donncha; O'Neill, Charles; Bertorelle, Giorgio; Beattie, Diane; Graham, Colin; Zschocke, Johannes; Cali, Francesco; Romano, Valentino; Hrabincova, Eva; Kozak, Libor; Nechyporenko, Marina; Livshits, Ludmilla; Guldberg, Per; Jurkowska, Monika; Zekanowski, Cezary; Perez, Belen; Desviat, Lourdes Ruiz; Ugarte, Magdalena; Ku?inskas, Vaidutis; Knappskog, Per; Treacy, Eileen; Naughten, Eileen; Tyfield, Linda; Byck, Susan; Scriver, Charles R.; Mayne, Philip D.; Croke, David T.
A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia
2001-01-01 Romano, V.; Lio, D.; Cali', Francesco; Scola, L.; Leggio, L.; D»anna, C.; De Leo, G.; Salerno, A.
PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis
2001-01-01 Mirisola, Mario G.; Cali, Francesco; Gloria, Angelo; Schinocca, Pietro; D'Amato, Monica; Cassara, Georgia; Leo, Giacomo De; Palillo, Letizia; Meli, Concetta; Romano, Valentino
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population
1996-01-01 Romano, V.; Guldberg, P.; Güttler, F.; Meli, C.; Mollica, F.; Pavone, L.; Giovannini, M.; Riva, E.; Biasucci, G.; Luotti, D.; Palillo, L.; Cali, F.; Ceratto, N.; Anello, G.; Bosco, P.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome | 1-gen-2008 | Di Gaetano, Cornelia; Cerutti, Nicoletta; Crobu, Francesca; Robino, Carlo; Inturri, Serena; Gino, Sarah; Guarrera, Simonetta; Underhill, Peter A; King, Roy J; Romano, Valentino; Cali, Francesco; Gasparini, Mauro; Matullo, Giuseppe; Salerno, Alfredo; Torre, Carlo; Piazza, Alberto | |
| Molecular basis of mild hyperphenylalaninaemia in Turkey | 1-gen-2000 | Yilmaz, E.; Cali, F.; Romano, V.; Özalp, I.; Coşkun, T.; Tokatli, A.; Kalkanoğlu, H. S.; Özgüç, M. | |
| Mutations and polymorphisms of the PAH gene in Sicily: comparison with other DNA polymorphisms | 1-gen-2000 | Romano, V.; Calì, F.; Ayala, G. F.; De Leo, G.; D'Anna, R. P.; Flugý, A.; D'Anna, C.; Bonanno, C. T.; Salerno, A.; Matullo, G.; Piazza, A. | |
| Towards a genetic history of Sicily | 1-gen-2000 | Piazza, Alberto; Matullo, G.; Romano, V.; Ayala, G. F.; Bonanno, C. T.; Calì, F.; D'Anna, C.; D'Anna, R.; De Leo, G.; Giambalvo, O.; Guarrera, S.; Guglielmino, C. R.; Salerno, A.; Zei, G. | |
| The phenylketonuria mouse model: a meeting review | 1-gen-2002 | David Mcdonald, J; Andriolo, Maria; Calì, Francesco; Mirisola, Mario; Puglisi-Allegra, Stefano; Romano, Valentino; Sarkissian, Christineh N; Smith, Carolyn B | |
| Tracing European Founder Lineages in the Near Eastern mtDNA Pool | 1-gen-2000 | Richards, Martin; Macaulay, Vincent; Hickey, Eileen; Vega, Emilce; Sykes, Bryan; Guida, Valentina; Rengo, Chiara; Sellitto, Daniele; Cruciani, Fulvio; Kivisild, Toomas; Villems, Richard; Thomas, Mark; Rychkov, Serge; Rychkov, Oksana; Rychkov, Yuri; Gölge, Mukaddes; Dimitrov, Dimitar; Hill, Emmeline; Bradley, Dan; Romano, Valentino; Calì, Francesco; Vona, Giuseppe; Demaine, Andrew; Papiha, Surinder; Triantaphyllidis, Costas; Stefanescu, Gheorghe; Hatina, Jiři; Belledi, Michele; Di Rienzo, Anna; Novelletto, Andrea; Oppenheim, Ariella; Nørby, Søren; Al-Zaheri, Nadia; Santachiara-Benerecetti, Silvana; Scozzari, Rosaria; Torroni, Antonio; Bandelt, Hans-Jürgen | |
| Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders | 1-gen-2025 | Vinci, Mirella; Greco, Donatella; Treccarichi, Simone; Musumeci, Antonino; Gloria, Angelo; Federico, Concetta; Saccone, Salvatore; Calì, Francesco; Sirrs, Sandra | |
| PPP2R5E: New gene potentially involved in specific learning disorders and myopathy | 1-gen-2025 | Musumeci, Antonino; Vinci, Mirella; Verbinnen, Iris; Treccarichi, Simone; Nigliato, Eleonora; Chiavetta, Valeria; Greco, Donatella; Vitello, Girolamo Aurelio; Federico, Concetta; Janssens, Veerle; Saccone, Salvatore; Calì, Francesco | |
| Cell line DNA typing in forensic genetics—the necessity of reliable standards | 1-gen-2003 | Szibor, Reinhard; Edelmann, Jeanett; Hering, Sandra; Plate, Ines; Wittig, Holger; Roewer, Lutz; Wiegand, Peter; Calì, Francesco; Romano, Valentino; Michael, Matthias | |
| SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes | 1-gen-2009 | Salemi, Michele; Romano, Corrado; Barone, Concetta; Calì, Francesco; Caraci, Filippo; Romano, Carmelo; Scavuzzo, Cataldo; Scillato, Francesco; Salluzzo, Maria Grazia; Piccione, Maria; Martines, Manuela; Corsello, Giovanni; Nicoletti, Ferdinando; Bosco, Paolo | |
| Carrier screening for spinal muscular atrophy in Italian population | 1-gen-2014 | Cali, Francesco; Ruggeri, Giuseppa; Chiavetta, Valeria; Scuderi, Carmela; Bianca, Sebastiano; Barone, Chiara; Ragalmuto, Alda; Schinocca, Pietro; Vitello, Girolamo Aurelio; Romano, Valentino; Musumeci, Sebastiano | |
| mtDNA analysis of the human remains buried in the sarcophagus of Federico II | 1-gen-2005 | Salerno, Alfredo; Lago, Giampietro; Berti, Andrea; Cali, Francesco; Mirisola, Mario; Carta, Patrizia; Ferro, Carmen; Romano, Valentino | |
| Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder | 1-gen-2023 | Nicotera, Antonio Gennaro; Amore, Greta; Saia, Maria Concetta; Vinci, Mirella; Musumeci, Antonino; Chiavetta, Valeria; Federico, Concetta; Spoto, Giulia; Saccone, Salvatore; Di Rosa, Gabriella; Cali, Francesco | |
| The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape | 1-gen-2015 | Georgebj, Busby; Garrett, Hellenthal; Francesco, Montinaro; Sergio, Tofanelli; Kazima, Bulayeva; Igor, Rudan; Tatijana, Zemunik; Caroline, Hayward; Draga, Toncheva; Sena, Karachanak-Yankova; Desislava, Nesheva; Paolo, Anagnostou; Cali', Francesco; Francesca, Brisighelli; Valentino, Romano; Gerard, Lefranc; Catherine, Buresi; Ben , ; Jemni, Chibani; Amel, Haj-Khelil; Sabri, Denden; Rafal, Ploski; Pawel, Krajewski; Tor, Hervig; Torolf, Moen; Rene , Herrera; James , Wilson; Simon, Myers; Cristian, Capelli | |
| Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset | 1-gen-2020 | Costanzo, Maria Cristina; Nicotera, Antonio Gennaro; Vinci, Mirella; Vitello, Aurelio; Fiumara, Agata; Cali, Francesco; Musumeci, Sebastiano Antonino | |
| Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis | 1-gen-2018 | Vinci, Mirella; Fichera, Marco; Musumeci, Sebastiano Antonino; Cali, Francesco; Vitello, Girolamo Aurelio | |
| Genetic diversity within the R408W phenylketonuria mutation lineages in Europe | 1-gen-2003 | Tighe, Orna; Dunican, Donncha; O'Neill, Charles; Bertorelle, Giorgio; Beattie, Diane; Graham, Colin; Zschocke, Johannes; Cali, Francesco; Romano, Valentino; Hrabincova, Eva; Kozak, Libor; Nechyporenko, Marina; Livshits, Ludmilla; Guldberg, Per; Jurkowska, Monika; Zekanowski, Cezary; Perez, Belen; Desviat, Lourdes Ruiz; Ugarte, Magdalena; Ku?inskas, Vaidutis; Knappskog, Per; Treacy, Eileen; Naughten, Eileen; Tyfield, Linda; Byck, Susan; Scriver, Charles R.; Mayne, Philip D.; Croke, David T. | |
| A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia | 1-gen-2001 | Romano, V.; Lio, D.; Cali', Francesco; Scola, L.; Leggio, L.; D»anna, C.; De Leo, G.; Salerno, A. | |
| PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis | 1-gen-2001 | Mirisola, Mario G.; Cali, Francesco; Gloria, Angelo; Schinocca, Pietro; D'Amato, Monica; Cassara, Georgia; Leo, Giacomo De; Palillo, Letizia; Meli, Concetta; Romano, Valentino | |
| PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population | 1-gen-1996 | Romano, V.; Guldberg, P.; Güttler, F.; Meli, C.; Mollica, F.; Pavone, L.; Giovannini, M.; Riva, E.; Biasucci, G.; Luotti, D.; Palillo, L.; Cali, F.; Ceratto, N.; Anello, G.; Bosco, P. |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile
Scopri
Tipologia
- 1 Contributo su Rivista16223
- 4 Contributo in Atti di Convegno ...2
- 2 Contributo in Volume1
Data di pubblicazione
- In corso di stampa18
- 2020 - 20267713
- 2010 - 20195913
- 2000 - 20091997
- 1990 - 1999523
- 1980 - 198961
- 1979 - 19791
Editore
- Trans Tech Publications1
Rivista
- INTERNATIONAL JOURNAL OF MOLECULA...235
- JOURNAL OF CLINICAL MEDICINE169
- CANCERS134
- INTERNATIONAL JOURNAL OF ENVIRONM...119
- DIAGNOSTICS88
- LNS. ACTIVITY REPORT85
- SCIENTIFIC REPORTS81
- PHD KORE REVIEW78
- RIVISTA DELLA COOPERAZIONE GIURID...76
- NUTRIENTS74
Serie
- ADVANCED MATERIALS RESEARCH1
- WORKING PAPERS RES1
Keyword
- COVID-19275
- Humans267
- Female142
- Male132
- SARS-CoV-2116
- inflammation108
- oxidative stress86
- Italy85
- Adult73
- Middle Aged72
Lingua
- eng11481
- ita2605
- fre66
- spa66
- lat12
- ger11
- por6
- ara3
- cat3
- enm3
Accesso al fulltext
- no fulltext16226