Identification of human D lactate dehydrogenase deficiency
2019-01-01 Monroe, Glen R.; Van Eerde, Albertien M.; Tessadori, Federico; Duran, Karen J.; Savelberg, Sanne M. C.; Van Alfen, Johanna C.; Terhal, Paulien A.; Van Der Crabben, Saskia N.; Lichtenbelt, Klaske D.; Fuchs, Sabine A.; Gerrits, Johan; Van Roosmalen, Markus J.; Van Gassen, Koen L.; Van Aalderen, Mirjam; Koot, Bart G.; Oostendorp, Marlies; Duran, Marinus; Visser, Gepke; De Koning, Tom J.; Calì, Francesco; Bosco, Paolo; Geleijns, Karin; de Sain-van der Velden, Monique G. M.; Knoers, Nine V.; Bakkers, Jeroen; Verhoeven-Duif, Nanda M.; Van Haaften, Gijs; Jans, Judith J.
Ancient human genomes suggest three ancestral populations for present-day Europeans
2014-01-01 Lazaridis, Iosif; Patterson, Nick; Mittnik, Alissa; Renaud, Gabriel; Mallick, Swapan; Kirsanow, Karola; Sudmant, Peter H.; Schraiber, Joshua G.; Castellano, Sergi; Lipson, Mark; Berger, Bonnie; Economou, Christos; Bollongino, Ruth; Qiaomei, Fu; Bos, Kirsten I.; Nordenfelt, Susanne; Heng, Li; De Filippo, Cesare; Prüfer, Kay; Sawyer, Susanna; Posth, Cosimo; Haak, Wolfgang; Hallgren, Fredrik; Fornander, Elin; Rohland, Nadin; Delsate, Dominique; Francken, Michael; Guinet, Jean-Michel; Wahl, Joachim; Ayodo, George; Babiker, Hamza A.; Bailliet, Graciela; Balanovska, Elena; Balanovsky, Oleg; Barrantes, Ramiro; Bedoya, Gabriel; Ben-Ami, Haim; Bene, Judit; Berrada, Fouad; Bravi, Claudio M.; Brisighelli, Francesca; Busby, George B. J.; Cali, Francesco; Churnosov, Mikhail; Cole, David E. C.; Corach, Daniel; Damba, Larissa; Van Driem, George; Dryomov, Stanislav; Dugoujon, Jean-Michel; Fedorova, Sardana A.; Gallego Romero, Irene; Gubina, Marina; Hammer, Michael; Henn, Brenna M.; Hervig, Tor; Hodoglugil, Ugur; Jha, Aashish R.; Karachanak-Yankova, Sena; Khusainova, Rita; Khusnutdinova, Elza; Kittles, Rick; Kivisild, Toomas; Klitz, William; Kučinskas, Vaidutis; Kushniarevich, Alena; Laredj, Leila; Litvinov, Sergey; Loukidis, Theologos; Mahley, Robert W.; Melegh, Béla; Metspalu, Ene; Molina, Julio; Mountain, Joanna; Näkkäläjärvi, Klemetti; Nesheva, Desislava; Nyambo, Thomas; Osipova, Ludmila; Parik, Jüri; Platonov, Fedor; Posukh, Olga; Romano, Valentino; Rothhammer, Francisco; Rudan, Igor; Ruizbakiev, Ruslan; Sahakyan, Hovhannes; Sajantila, Antti; Salas, Antonio; Starikovskaya, Elena B.; Tarekegn, Ayele; Toncheva, Draga; Turdikulova, Shahlo; Uktveryte, Ingrida; Utevska, Olga; Vasquez, René; Villena, Mercedes; Voevoda, Mikhail; Winkler, Cheryl A.; Yepiskoposyan, Levon; Zalloua, Pierre; Zemunik, Tatijana; Cooper, Alan; Capelli, Cristian; Thomas, Mark G.; Ruiz-Linares, Andres; Tishkoff, Sarah A.; Singh, Lalji; Thangaraj, Kumarasamy; Villems, Richard; Comas, David; Sukernik, Rem; Metspalu, Mait; Meyer, Matthias; Eichler, Evan E.; Burger, Joachim; Slatkin, Montgomery; Pääbo, Svante; Kelso, Janet; Reich, David; Krause, Johannes
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily
2015-01-01 Tofanelli, Sergio; Brisighelli, Francesca; Anagnostou, Paolo; Busby, George B J; Ferri, Gianmarco; Thomas, Mark G; Taglioli, Luca; Rudan, Igor; Zemunik, Tatijana; Hayward, Caroline; Bolnick, Deborah; Romano, Valentino; Cali, Francesco; Luiselli, Donata; Shepherd, Gillian B; Tusa, Sebastiano; Facella, Antonino; Capelli, Cristian
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe
2009-01-01 Capelli, Cristian; Onofri, Valerio; Brisighelli, Francesca; Boschi, Ilaria; Scarnicci, Francesca; Masullo, Mara; Ferri, Gianmarco; Tofanelli, Sergio; Tagliabracci, Adriano; Gusmao, Leonor; Amorim, Antonio; Gatto, Francesco; Kirin, Mirna; Merlitti, Davide; Brion, Maria; Verea, Alejandro Blanco; Romano, Valentino; Cali, Francesco; Pascali, Vincenzo
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Identification of human D lactate dehydrogenase deficiency | 1-gen-2019 | Monroe, Glen R.; Van Eerde, Albertien M.; Tessadori, Federico; Duran, Karen J.; Savelberg, Sanne M. C.; Van Alfen, Johanna C.; Terhal, Paulien A.; Van Der Crabben, Saskia N.; Lichtenbelt, Klaske D.; Fuchs, Sabine A.; Gerrits, Johan; Van Roosmalen, Markus J.; Van Gassen, Koen L.; Van Aalderen, Mirjam; Koot, Bart G.; Oostendorp, Marlies; Duran, Marinus; Visser, Gepke; De Koning, Tom J.; Calì, Francesco; Bosco, Paolo; Geleijns, Karin; de Sain-van der Velden, Monique G. M.; Knoers, Nine V.; Bakkers, Jeroen; Verhoeven-Duif, Nanda M.; Van Haaften, Gijs; Jans, Judith J. | |
| Ancient human genomes suggest three ancestral populations for present-day Europeans | 1-gen-2014 | Lazaridis, Iosif; Patterson, Nick; Mittnik, Alissa; Renaud, Gabriel; Mallick, Swapan; Kirsanow, Karola; Sudmant, Peter H.; Schraiber, Joshua G.; Castellano, Sergi; Lipson, Mark; Berger, Bonnie; Economou, Christos; Bollongino, Ruth; Qiaomei, Fu; Bos, Kirsten I.; Nordenfelt, Susanne; Heng, Li; De Filippo, Cesare; Prüfer, Kay; Sawyer, Susanna; Posth, Cosimo; Haak, Wolfgang; Hallgren, Fredrik; Fornander, Elin; Rohland, Nadin; Delsate, Dominique; Francken, Michael; Guinet, Jean-Michel; Wahl, Joachim; Ayodo, George; Babiker, Hamza A.; Bailliet, Graciela; Balanovska, Elena; Balanovsky, Oleg; Barrantes, Ramiro; Bedoya, Gabriel; Ben-Ami, Haim; Bene, Judit; Berrada, Fouad; Bravi, Claudio M.; Brisighelli, Francesca; Busby, George B. J.; Cali, Francesco; Churnosov, Mikhail; Cole, David E. C.; Corach, Daniel; Damba, Larissa; Van Driem, George; Dryomov, Stanislav; Dugoujon, Jean-Michel; Fedorova, Sardana A.; Gallego Romero, Irene; Gubina, Marina; Hammer, Michael; Henn, Brenna M.; Hervig, Tor; Hodoglugil, Ugur; Jha, Aashish R.; Karachanak-Yankova, Sena; Khusainova, Rita; Khusnutdinova, Elza; Kittles, Rick; Kivisild, Toomas; Klitz, William; Kučinskas, Vaidutis; Kushniarevich, Alena; Laredj, Leila; Litvinov, Sergey; Loukidis, Theologos; Mahley, Robert W.; Melegh, Béla; Metspalu, Ene; Molina, Julio; Mountain, Joanna; Näkkäläjärvi, Klemetti; Nesheva, Desislava; Nyambo, Thomas; Osipova, Ludmila; Parik, Jüri; Platonov, Fedor; Posukh, Olga; Romano, Valentino; Rothhammer, Francisco; Rudan, Igor; Ruizbakiev, Ruslan; Sahakyan, Hovhannes; Sajantila, Antti; Salas, Antonio; Starikovskaya, Elena B.; Tarekegn, Ayele; Toncheva, Draga; Turdikulova, Shahlo; Uktveryte, Ingrida; Utevska, Olga; Vasquez, René; Villena, Mercedes; Voevoda, Mikhail; Winkler, Cheryl A.; Yepiskoposyan, Levon; Zalloua, Pierre; Zemunik, Tatijana; Cooper, Alan; Capelli, Cristian; Thomas, Mark G.; Ruiz-Linares, Andres; Tishkoff, Sarah A.; Singh, Lalji; Thangaraj, Kumarasamy; Villems, Richard; Comas, David; Sukernik, Rem; Metspalu, Mait; Meyer, Matthias; Eichler, Evan E.; Burger, Joachim; Slatkin, Montgomery; Pääbo, Svante; Kelso, Janet; Reich, David; Krause, Johannes | |
| The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily | 1-gen-2015 | Tofanelli, Sergio; Brisighelli, Francesca; Anagnostou, Paolo; Busby, George B J; Ferri, Gianmarco; Thomas, Mark G; Taglioli, Luca; Rudan, Igor; Zemunik, Tatijana; Hayward, Caroline; Bolnick, Deborah; Romano, Valentino; Cali, Francesco; Luiselli, Donata; Shepherd, Gillian B; Tusa, Sebastiano; Facella, Antonino; Capelli, Cristian | |
| Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe | 1-gen-2009 | Capelli, Cristian; Onofri, Valerio; Brisighelli, Francesca; Boschi, Ilaria; Scarnicci, Francesca; Masullo, Mara; Ferri, Gianmarco; Tofanelli, Sergio; Tagliabracci, Adriano; Gusmao, Leonor; Amorim, Antonio; Gatto, Francesco; Kirin, Mirna; Merlitti, Davide; Brion, Maria; Verea, Alejandro Blanco; Romano, Valentino; Cali, Francesco; Pascali, Vincenzo | |
| 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 |
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