UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways
2024-01-01 Treccarichi, Simone; Failla, Pinella; Vinci, Mirella; Musumeci, Antonino; Gloria, Angelo; Vasta, Anna; Calabrese, Giuseppe; Papa, Carla; Federico, Concetta; Saccone, Salvatore; Calì, Francesco
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs
2021-01-01 Nicotera, Antonio Gennaro; Di Rosa, Gabriella; Turriziani, Laura; Costanzo, Maria Cristina; Stracuzzi, Emanuela; Vitello, Girolamo Aurelio; Rando, Rosanna Galati; Musumeci, Antonino; Vinci, Mirella; Musumeci, Sebastiano Antonino; Calì, Francesco
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy
2022-01-01 Musumeci, Antonino; Calì, Francesco; Scuderi, Carmela; Vinci, Mirella; Vitello, Girolamo Aurelio; Musumeci, Sebastiano Antonino; Chiavetta, Valeria; Federico, Concetta; Amore, Greta; Saccone, Salvatore; Di Rosa, Gabriella; Nicotera, Antonio Gennaro
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review
2022-01-01 Amore, Greta; Butera, Ambra; Spoto, Giulia; Valentini, Giulia; Saia, Maria Concetta; Salpietro, Vincenzo; Calì, Francesco; Di Rosa, Gabriella; Nicotera, Antonio Gennaro
An odd precocious case of progressive osseous heteroplasia
2021-01-01 Schepis, Carmelo; Lentini, Maria; Calì, Francesco
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy
2020-01-01 Schepis, Carmelo; Failla, Pinella; Siragusa, Maddalena; Vinci, Mirella; Calì, Francesco
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding
2010-01-01 Sbacchi, Silvia; Acquadro, Francesco; Calo, Ignazio; Cali, Francesco; Romano, Valentino
GENETIC RELATIONSHIPS OF BRASSICA VEGETABLES AND WILD RELATIVES IN SOUTHERN ITALY DETERMINED BY FIVE SSR
2013-01-01 Branca, F.; Ragusa, L.; Tribulato, A.; Di Gaetano, C.; Calì, F.
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
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
Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities
2016-01-01 Fallea, Antonio; Zuccarello, Rosa; Calì, Francesco
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
Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes
2001-01-01 Giannattasio, Sergio; Dianzani, Irma; Lattanzio, Paolo; Spada, Marco; Romano, Valentino; Calì, Francesco; Andria, Generoso; Ponzone, Alberto; Marra, Ersilia; Piazza, Alberto
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
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
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective
2006-01-01 Capelli, C.; Redhead, N.; Romano, V.; Calì, F.; Lefranc, G.; Delague, V.; Megarbane, A.; Felice, A. E.; Pascali, V. L.; Neophytou, P. I.; Poulli, Z.; Novelletto, A.; Malaspina, P.; Terrenato, L.; Berebbi, A.; Fellous, M.; Thomas, M. G.; Goldstein, D. B.
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
Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation
2005-01-01 Fichera, M; Falco, M; Lo Giudice, M; Castiglia, L; Guarnaccia, V; Calì, F; Spalletta, A; Scuderi, C; Avola, E
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma
2008-01-01 Salemi, Michele; Bosco, Paolo; Calì, Francesco; Calogero, Aldo E.; Soma, Pier Franco; Galia, Antonio; Lanzafame, Manuela; Romano, Carmelo; Vicari, Enzo; Grasso, Giuseppe; Siragò, Paolo; Rappazzo, Giancarlo
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria
2000-01-01 Puglisi-Allegra, Stefano; Cabib, Simona; Pascucci, Tiziana; Ventura, Rossella; Cali, Francesco; Romano, Valentino
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways | 1-gen-2024 | Treccarichi, Simone; Failla, Pinella; Vinci, Mirella; Musumeci, Antonino; Gloria, Angelo; Vasta, Anna; Calabrese, Giuseppe; Papa, Carla; Federico, Concetta; Saccone, Salvatore; Calì, Francesco | |
| Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs | 1-gen-2021 | Nicotera, Antonio Gennaro; Di Rosa, Gabriella; Turriziani, Laura; Costanzo, Maria Cristina; Stracuzzi, Emanuela; Vitello, Girolamo Aurelio; Rando, Rosanna Galati; Musumeci, Antonino; Vinci, Mirella; Musumeci, Sebastiano Antonino; Calì, Francesco | |
| Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy | 1-gen-2022 | Musumeci, Antonino; Calì, Francesco; Scuderi, Carmela; Vinci, Mirella; Vitello, Girolamo Aurelio; Musumeci, Sebastiano Antonino; Chiavetta, Valeria; Federico, Concetta; Amore, Greta; Saccone, Salvatore; Di Rosa, Gabriella; Nicotera, Antonio Gennaro | |
| KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review | 1-gen-2022 | Amore, Greta; Butera, Ambra; Spoto, Giulia; Valentini, Giulia; Saia, Maria Concetta; Salpietro, Vincenzo; Calì, Francesco; Di Rosa, Gabriella; Nicotera, Antonio Gennaro | |
| An odd precocious case of progressive osseous heteroplasia | 1-gen-2021 | Schepis, Carmelo; Lentini, Maria; Calì, Francesco | |
| Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy | 1-gen-2020 | Schepis, Carmelo; Failla, Pinella; Siragusa, Maddalena; Vinci, Mirella; Calì, Francesco | |
| Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding | 1-gen-2010 | Sbacchi, Silvia; Acquadro, Francesco; Calo, Ignazio; Cali, Francesco; Romano, Valentino | |
| GENETIC RELATIONSHIPS OF BRASSICA VEGETABLES AND WILD RELATIVES IN SOUTHERN ITALY DETERMINED BY FIVE SSR | 1-gen-2013 | Branca, F.; Ragusa, L.; Tribulato, A.; Di Gaetano, C.; Calì, F. | |
| 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 | |
| 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 | |
| Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities | 1-gen-2016 | Fallea, Antonio; Zuccarello, Rosa; Calì, Francesco | |
| 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 | |
| Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes | 1-gen-2001 | Giannattasio, Sergio; Dianzani, Irma; Lattanzio, Paolo; Spada, Marco; Romano, Valentino; Calì, Francesco; Andria, Generoso; Ponzone, Alberto; Marra, Ersilia; Piazza, Alberto | |
| 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 | |
| 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 | |
| Population Structure in the Mediterranean Basin: A Y Chromosome Perspective | 1-gen-2006 | Capelli, C.; Redhead, N.; Romano, V.; Calì, F.; Lefranc, G.; Delague, V.; Megarbane, A.; Felice, A. E.; Pascali, V. L.; Neophytou, P. I.; Poulli, Z.; Novelletto, A.; Malaspina, P.; Terrenato, L.; Berebbi, A.; Fellous, M.; Thomas, M. G.; Goldstein, D. B. | |
| 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 | |
| Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation | 1-gen-2005 | Fichera, M; Falco, M; Lo Giudice, M; Castiglia, L; Guarnaccia, V; Calì, F; Spalletta, A; Scuderi, C; Avola, E | |
| SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma | 1-gen-2008 | Salemi, Michele; Bosco, Paolo; Calì, Francesco; Calogero, Aldo E.; Soma, Pier Franco; Galia, Antonio; Lanzafame, Manuela; Romano, Carmelo; Vicari, Enzo; Grasso, Giuseppe; Siragò, Paolo; Rappazzo, Giancarlo | |
| Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria | 1-gen-2000 | Puglisi-Allegra, Stefano; Cabib, Simona; Pascucci, Tiziana; Ventura, Rossella; Cali, Francesco; Romano, Valentino |
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