CALI', FRANCESCO
CALI', FRANCESCO
Dipartimento di Medicina e Chirurgia
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features
2007-01-01 Alberti, A; Romano, C; Falco, M; Calì, F; Schinocca, P; Galesi, O; Spalletta, A; Di Benedetto, D; Fichera, M
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study
2020-01-01 Lanza, Giuseppe; Calì, Francesco; Vinci, Mirella; Cosentino, Filomena Irene Ilaria; Tripodi, Mariangela; Spada, Rosario Sebastiano; Cantone, Mariagiovanna; Bella, Rita; Mattina, Teresa; Ferri, Raffaele
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy
2020-01-01 Vetri, Luigi; Calì, Francesco; Vinci, Mirella; Amato, Carmelo; Roccella, Michele; Granata, Tiziana; Freri, Elena; Solazzi, Roberta; Romano, Valentino; Elia, Maurizio
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.
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype
2021-01-01 Nicotera, Antonio Gennaro; Spoto, Giulia; Calì, Francesco; Romeo, Giusi; Musumeci, Antonino; Vinci, Mirella; Fiumara, Agata; Barone, Rita; Di Rosa, Gabriella; Musumeci, Sebastiano Antonino
An odd precocious case of progressive osseous heteroplasia
2021-01-01 Schepis, Carmelo; Lentini, Maria; Calì, Francesco
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
Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis
2018-01-01 Schepis, Carmelo; Failla, Pinella; Siragusa, Maddalena; Chiavetta, Valeria; Ruggeri, Giuseppa; Calì, Francesco
Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review
2021-01-01 Romano, Valentino; Catalano, Giulio; Bazan, Giuseppe; Calì, Francesco; Sineo, Luca
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report
2020-01-01 Calì, Francesco; Elia, Maurizio; Vinci, Mirella; Vetri, Luigi; Correnti, Edvige; Trapolino, Emanuele; Roccella, Michele; Vanadia, Francesca; Romano, Valentino
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation
2014-01-01 Marrale, Maurizio; Albanese, Nadia Ninfa; Calì, Francesco; Romano, Valentino
Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily
1994-01-01 Romano, V; Calì, F; Guldberg, P; Güttler, F; Indelicato, A; Bosco, P; Ceratto, N
Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy)
2003-01-01 Romano, V.; Calì, F.; Ragalmuto, A.; D'Anna, R. P.; Flugy, A.; De Leo, G.; Giambalvo, O.; Lisa, A.; Fiorani, O.; Di Gaetano, C.; Salerno, A.; Tamouza, R.; Charron, D.; Zei, G.; Matullo, G.; Piazza, A.
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant
2024-01-01 Norata, Davide; Alonge, Paolo; Grillo, Lucia; Calì, Francesco; Sturnio, Maurizio; Lupica, Antonino; Costa, Vanessa; Brighina, Filippo; Di Stefano, Vincenzo
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms
2024-01-01 Vinci, Mirella; Greco, Donatella; Treccarichi, Simone; Chiavetta, Valeria; Figura, Maria Grazia; Musumeci, Antonino; Greco, Vittoria; Federico, Concetta; Calì, Francesco; Saccone, Salvatore
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
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
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants
2025-01-01 Greco, Vittoria; Greco, Donatella; Treccarichi, Simone; Bottitta, Maria; Failla, Pinella; Musumeci, Antonino; Papa, Carla; Chiavetta, Valeria; Calì, Francesco; Vinci, Mirella
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients
2013-01-01 Calì, F.; Chiavetta, V.; Ragalmuto, A.; Vinci, M.; Ruggeri, G.; Schinocca, P.; Romano, V.
Continental and subcontinental distributions of mtDNA control region types
2002-01-01 Forster, Peter; Cali, Francesco; Röhl, Arne; Metspalu, Ene; D'Anna, Rosalba; Mirisola, Mario; De Leo, Giacomo; Flugy, Anna; Salerno, Alfredo; Ayala, Giovanni; Kouvatsi, Anastasia; Villems, Richard; Romano, Valentino
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features | 1-gen-2007 | Alberti, A; Romano, C; Falco, M; Calì, F; Schinocca, P; Galesi, O; Spalletta, A; Di Benedetto, D; Fichera, M | |
| A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study | 1-gen-2020 | Lanza, Giuseppe; Calì, Francesco; Vinci, Mirella; Cosentino, Filomena Irene Ilaria; Tripodi, Mariangela; Spada, Rosario Sebastiano; Cantone, Mariagiovanna; Bella, Rita; Mattina, Teresa; Ferri, Raffaele | |
| A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy | 1-gen-2020 | Vetri, Luigi; Calì, Francesco; Vinci, Mirella; Amato, Carmelo; Roccella, Michele; Granata, Tiziana; Freri, Elena; Solazzi, Roberta; Romano, Valentino; Elia, Maurizio | |
| 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. | |
| A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype | 1-gen-2021 | Nicotera, Antonio Gennaro; Spoto, Giulia; Calì, Francesco; Romeo, Giusi; Musumeci, Antonino; Vinci, Mirella; Fiumara, Agata; Barone, Rita; Di Rosa, Gabriella; Musumeci, Sebastiano Antonino | |
| An odd precocious case of progressive osseous heteroplasia | 1-gen-2021 | Schepis, Carmelo; Lentini, Maria; Calì, Francesco | |
| 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 | |
| Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis | 1-gen-2018 | Schepis, Carmelo; Failla, Pinella; Siragusa, Maddalena; Chiavetta, Valeria; Ruggeri, Giuseppa; Calì, Francesco | |
| Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review | 1-gen-2021 | Romano, Valentino; Catalano, Giulio; Bazan, Giuseppe; Calì, Francesco; Sineo, Luca | |
| Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report | 1-gen-2020 | Calì, Francesco; Elia, Maurizio; Vinci, Mirella; Vetri, Luigi; Correnti, Edvige; Trapolino, Emanuele; Roccella, Michele; Vanadia, Francesca; Romano, Valentino | |
| Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation | 1-gen-2014 | Marrale, Maurizio; Albanese, Nadia Ninfa; Calì, Francesco; Romano, Valentino | |
| Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily | 1-gen-1994 | Romano, V; Calì, F; Guldberg, P; Güttler, F; Indelicato, A; Bosco, P; Ceratto, N | |
| Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy) | 1-gen-2003 | Romano, V.; Calì, F.; Ragalmuto, A.; D'Anna, R. P.; Flugy, A.; De Leo, G.; Giambalvo, O.; Lisa, A.; Fiorani, O.; Di Gaetano, C.; Salerno, A.; Tamouza, R.; Charron, D.; Zei, G.; Matullo, G.; Piazza, A. | |
| Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant | 1-gen-2024 | Norata, Davide; Alonge, Paolo; Grillo, Lucia; Calì, Francesco; Sturnio, Maurizio; Lupica, Antonino; Costa, Vanessa; Brighina, Filippo; Di Stefano, Vincenzo | |
| Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms | 1-gen-2024 | Vinci, Mirella; Greco, Donatella; Treccarichi, Simone; Chiavetta, Valeria; Figura, Maria Grazia; Musumeci, Antonino; Greco, Vittoria; Federico, Concetta; Calì, Francesco; Saccone, Salvatore | |
| 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 | |
| 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 | |
| Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants | 1-gen-2025 | Greco, Vittoria; Greco, Donatella; Treccarichi, Simone; Bottitta, Maria; Failla, Pinella; Musumeci, Antonino; Papa, Carla; Chiavetta, Valeria; Calì, Francesco; Vinci, Mirella | |
| Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients | 1-gen-2013 | Calì, F.; Chiavetta, V.; Ragalmuto, A.; Vinci, M.; Ruggeri, G.; Schinocca, P.; Romano, V. | |
| Continental and subcontinental distributions of mtDNA control region types | 1-gen-2002 | Forster, Peter; Cali, Francesco; Röhl, Arne; Metspalu, Ene; D'Anna, Rosalba; Mirisola, Mario; De Leo, Giacomo; Flugy, Anna; Salerno, Alfredo; Ayala, Giovanni; Kouvatsi, Anastasia; Villems, Richard; Romano, Valentino |