Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes
Miceli, Martina, Failla, Pinella, Saccuzzo, Lucia, Galesi, Ornella, Amata, Silvestra, Romano, Corrado, Bonaglia, Maria Clara, Fichera, Marco
Published in Genes & genomics (01.04.2023)
Published in Genes & genomics (01.04.2023)
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Identification of novel mutations in L1CAM gene by a DHPLC-based assay
Vinci, Mirella, Falco, Michele, Castiglia, Lucia, Grillo, Lucia, Spalletta, Angela, Sturnio, Maurizio, Galesi, Ornella, Salemi, Michele, Gloria, Angelo, Amata, Silvestra, Piccione, Maria, Antona, Vincenzo, Vitello, Girolamo Aurelio, Fichera, Marco
Published in Genes & genomics (01.12.2016)
Published in Genes & genomics (01.12.2016)
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Journal Article
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis
Grillo, Lucia, Greco, Donatella, Pettinato, Rosa, Avola, Emanuela, Potenza, Nabor, Castiglia, Lucia, Spalletta, Angela, Amata, Silvestra, Di Benedetto, Daniela, Luciano, Daniela, Romano, Corrado, Fichera, Marco
Published in Gene (25.01.2014)
Published in Gene (25.01.2014)
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Journal Article
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
Fichera, Marco, Barone, Rita, Grillo, Lucia, De Grandi, Mariaclara, Fiore, Valerio, Morana, Ignazio, Maniscalchi, Tiziana, Vinci, Mirella, Amata, Silvestra, Spalletta, Angela, Sorge, Giovanni, Signorelli, Salvatore Santo
Published in Molecular cytogenetics (19.12.2014)
Published in Molecular cytogenetics (19.12.2014)
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Journal Article
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay
Falco, Michele, Romano, Corrado, Alberti, Antonino, Greco, Donatella, Scuderi, Carmela, Avola, Emanuela, Failla, Pinella, Belli, Serena, Tolmie, John L, Amata, Silvestra, Fichera, Marco
Published in Clinical chemistry (Baltimore, Md.) (01.12.2005)
Published in Clinical chemistry (Baltimore, Md.) (01.12.2005)
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Journal Article
Identification of novel mutations in patients with cof fin-lowry syndrome by a denaturing HPLC-based assay
FALCO, Michele, ROMANO, Corrado, FICHERA, Marco, ALBERTI, Antonino, GRECO, Donatella, SCUDERI, Carmela, AVOLA, Emanuela, FAILLA, Pinella, BELLI, Serena, TOLMIE, John L, AMATA, Silvestra
Published in Clinical chemistry (Baltimore, Md.) (2005)
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Published in Clinical chemistry (Baltimore, Md.) (2005)
Journal Article
Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G-->A mutation: role of the beta-globin gene haplotype
Ragusa, A, Amata, S, Lombardo, T, Castiglia, L, Maier-Redelsperger, M, Labie, D, Bernini, L
Published in Haematologica (Roma) (01.10.2003)
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Published in Haematologica (Roma) (01.10.2003)
Journal Article
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
Fichera, Marco, Barone, Rita, Grillo, Lucia, De Grandi, Mariaclara, Fiore, Valerio, Morana, Ignazio, Maniscalchi, Tiziana, Vinci, Mirella, Amata, Silvestra, Spalletta, Angela, Sorge, Giovanni, Signorelli, Salvatore Santo
Published in Molecular cytogenetics (01.01.2014)
Published in Molecular cytogenetics (01.01.2014)
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