Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy
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
Published in Biomedicines (14.09.2022)
Published in Biomedicines (14.09.2022)
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Journal Article
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies
Vetri, Luigi, Calì, Francesco, Saccone, Salvatore, Vinci, Mirella, Chiavetta, Natalia Valeria, Carotenuto, Marco, Roccella, Michele, Costanza, Carola, Elia, Maurizio
Published in International journal of molecular sciences (01.01.2024)
Published in International journal of molecular sciences (01.01.2024)
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Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene
Vinci, Mirella, Kursula, Petri, Greco, Donatella, Elia, Maurizio, Vetri, Luigi, Schepis, Carmelo, Chiavetta, Valeria, Donadio, Serena, Roccella, Michele, Carotenuto, Marco, Romano, Valentino, Calì, Francesco
Published in Molecular genetics & genomic medicine (01.09.2022)
Published in Molecular genetics & genomic medicine (01.09.2022)
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Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease
Cali, Francesco, Cantone, Mariagiovanna, Cosentino, Filomena Irene Ilaria, Lanza, Giuseppe, Ruggeri, Giuseppa, Chiavetta, Valeria, Salluzzo, Roberto, Ragalmuto, Alda, Vinci, Mirella, Ferri, Raffaele
Published in Journal of Parkinson's disease (01.01.2019)
Published in Journal of Parkinson's disease (01.01.2019)
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Journal Article
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
Calì, Francesco, Ragalmuto, Alda, Chiavetta, Valeria, Calabrese, Giuseppe, Fichera, Marco, Vinci, Mirella, Ruggeri, Giuseppa, Schinocca, Pietro, Sturnio, Maurizio, Romano, Salvatore, Romano, Valentino, Elia, Maurizio
Published in Experimental & molecular medicine (31.12.2010)
Published in Experimental & molecular medicine (31.12.2010)
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Journal Article
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
Calì, Francesco, Ruggeri, Giuseppa, Vinci, Mirella, Meli, Concetta, Carducci, Carla, Leuzzi, Vincenzo, Pozzessere, Simone, Schinocca, Pietro, Ragalmuto, Alda, Chiavetta, Valeria, Miccichè, Salvatore, Romano, Valentino
Published in Experimental & molecular medicine (28.02.2010)
Published in Experimental & molecular medicine (28.02.2010)
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Journal Article
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy
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
Published in Gene (15.01.2025)
Published in Gene (15.01.2025)
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Journal Article
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
Cali, Francesco, Ragalmuto, Alda, Chiavetta, Valeria, Calabrese, Giuseppe, Fichera, Marco, Vinci, Mirella, Ruggeri, Giuseppa, Schinocca, Pietro, Sturnio, Maurizio, Romano, Salvatore, Romano, Valentino, Elia, Maurizio
Published in Experimental & molecular medicine (2010)
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Published in Experimental & molecular medicine (2010)
Journal Article
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder
Nicotera, Antonio Gennaro, Amore, Greta, Saia, Maria Concetta, Vinci, Mirella, Musumeci, Antonino, Chiavetta, Valeria, Federico, Concetta, Spoto, Giulia, Saccone, Salvatore, Di Rosa, Gabriella, Calì, Francesco
Published in Neuromolecular medicine (01.12.2023)
Published in Neuromolecular medicine (01.12.2023)
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Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms
Vinci, Mirella, Greco, Donatella, Treccarichi, Simone, Chiavetta, Valeria, Figura, Maria Grazia, Musumeci, Antonino, Greco, Vittoria, Federico, Concetta, Calì, Francesco, Saccone, Salvatore
Published in Genes (11.08.2024)
Published in Genes (11.08.2024)
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Journal Article
Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis
Schepis, Carmelo, Failla, Pinella, Siragusa, Maddalena, Chiavetta, Valeria, Ruggeri, Giuseppa, Calì, Francesco
Published in EJD. European journal of dermatology (01.01.2018)
Published in EJD. European journal of dermatology (01.01.2018)
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Journal Article
Identification of a Novel Missense Mutation of IPOLR3A/I Gene in a Cohort of Sicilian Patients with Leukodystrophy
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
Published in Biomedicines (01.09.2022)
Published in Biomedicines (01.09.2022)
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Journal Article
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
Calì, Francesco, Chiavetta, Valeria, Ruggeri, Giuseppa, Piccione, Maria, Selicorni, Angelo, Palazzo, Daniela, Bonsignore, Maria, Cereda, Anna, Elia, Maurizio, Failla, Pinella, Figura, Maria Grazia, Fiumara, Agata, Maitz, Silvia, Luana Mandarà, Giuseppa Maria, Mattina, Teresa, Ragalmuto, Alda, Romano, Corrado, Ruggieri, Martino, Salluzzo, Roberto, Saporoso, Antonino, Schepis, Carmelo, Sorge, Giovanni, Spanò, Maria, Tortorella, Gaetano, Romano, Valentino
Published in European journal of medical genetics (01.02.2017)
Published in European journal of medical genetics (01.02.2017)
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Journal Article
An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis
Schepis, Carmelo, Failla, Pinella, Siragusa, Maddalena, Chiavetta, Valeria, Ruggeri, Giuseppa, Calì, Francesco
Published in EJD. European journal of dermatology (01.02.2018)
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Published in EJD. European journal of dermatology (01.02.2018)
Journal Article
Carrier screening for spinal muscular atrophy in Italian population
CALÌ, FRANCESCO, RUGGERI, GIUSEPPA, CHIAVETTA, VALERIA, SCUDERI, CARMELA, BIANCA, SEBASTIANO, BARONE, CHIARA, RAGALMUTO, ALDA, SCHINOCCA, PIETRO, VITELLO, GIROLAMO AURELIO, ROMANO, VALENTINO, MUSUMECI, SEBASTIANO
Published in Journal of genetics (01.04.2014)
Published in Journal of genetics (01.04.2014)
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Journal Article
A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis
Calì, Francesco, Mandarà, Giuseppa Maria Luana, Ruggeri, Giuseppa, Romano, Corrado, Chiavetta, Valeria, Ragalmuto, Alda, Salluzzo, Roberto, Romano, Valentino, Tardanico, Marilena Galati, Schepis, Carmelo
Published in Journal of biomedical science and engineering (2016)
Published in Journal of biomedical science and engineering (2016)
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Journal Article
A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease
Chiavetta, Valeria, Romano, Corrado, Calì, Francesco, Ruggeri, Giuseppa, Siragusa, Maddalena, Greco, Donatella, Romano, Valentino, Schepis, Carmelo
Published in Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia (01.10.2016)
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Published in Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia (01.10.2016)
Journal Article
An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis
Schepis, Carmelo, Failla, Pinella, Siragusa, Maddalena, Chiavetta, Valeria, Ruggeri, Giuseppa, Calì, Francesco
Published in European journal of dermatology : EJD (01.02.2018)
Published in European journal of dermatology : EJD (01.02.2018)
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