Sfoglia per Autore
Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia
2023-01-01 Luongo, Francesca Paola; Luddi, Alice; Ponchia, Rosetta; Ferrante, Rossella; Di Rado, Sara; Paccagnini, Eugenio; Gentile, Mariangela; Lupetti, Pietro; Guazzo, Raffaella; Orrico, Alfredo; Stuppia, Liborio; Piomboni, Paola
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes
2021-01-01 Doddato, G.; Valentino, F.; Giliberti, A.; Papa, F. T.; Tita, R.; Bruno, L. P.; Resciniti, S.; Fallerini, C.; Benetti, E.; Palmieri, M.; Mencarelli, M. A.; Fabbiani, A.; Bruttini, M.; Orrico, A.; Baldassarri, M.; Fava, F.; Lopergolo, D.; Lo Rizzo, C.; Lamacchia, V.; Mannucci, S.; Pinto, A. M.; Curro, A.; Mancini, V.; Mari, F.; Renieri, A.; Ariani, F.
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
2021-01-01 Doddato, G; Valentino, F; Giliberti, A; Papa, Ft; Tita, R; Bruno, Lp; Resciniti, S; Fallerini, C; Benetti, E; Palmieri, M; Mencarelli, Ma; Fabbiani, A; Bruttini, M; Orrico, A; Baldassarri, M; Fava, F; Lopergolo, D; Lo Rizzo, C; Lamacchia, V; Mannucci, S; Pinto, Am; Currò, A; Mancini, V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est; Mari, F; Renieri, A; Ariani, F
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435)
2021-01-01 Doddato, G.; Valentino, F.; Giliberti, A.; Papa, F. T.; Tita, R.; Bruno, L. P.; Resciniti, S.; Fallerini, C.; Benetti, E.; Palmieri, M.; Mencarelli, M. A.; Fabbiani, A.; Bruttini, M.; Orrico, A.; Baldassarri, M.; Fava, F.; Lopergolo, D.; Rizzo, C. L.; Lamacchia, V.; Mannucci, S.; Pinto, A. M.; Curro, A.; Mancini, V.; Mari, F.; Renieri, A.; Ariani, F.
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases
2018-01-01 Taglia, I.; Di Donato, I.; Bianchi, S.; Cerase, A.; Monti, L.; Marconi, R.; Orrico, A.; Rufa, A.; Federico, A.; Dotti, M. T.
Molecular dissection using array comparative genomic hybridization and clinical evaluation of an infertile male carrier of an unbalanced Y;21 traslocation:A case report and rewiew of the literature
2016-01-01 Orrico, Alfredo; Marseglia, ; Pescucci, Chiara; Cortesi, A; Piomboni, Paola; Giansanti, A; Gerundino, Francesca; Ponchietti, Roberto
Polymorphism of cytochrome P450 2D6 and its clinical significance in a sample of 73 consecutive patients
2014-01-01 Amodeo, G.; Blardi, P.; De Lalla, A.; Galli, L.; Orrico, A.; Koukouna, D.; Bossini, L.; Fagiolini, A.
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene
2010-01-01 Orrico, A.; Galli, L.; Faivre, L.; Clayton-Smith, J.; Azzarello-Burri, S. M.; Hertz, J. M.; Jacquemont, S.; Taurisano, R.; Carrera, I. A.; Tarantino, E.; Devriendt, K.; Melis, D.; Thelle, T.; Meinhardt, U.; Sorrentino, V.
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication
2009-01-01 Orrico, A.; Zollino, M.; Galli, L.; Buoni, S.; Marangi, G.; Sorrentino, V.
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly
2009-01-01 Orrico, A.; Galli, L.; Buoni, S.; Orsi, A.; Vonella, G.; Sorrentino, V.
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies
2009-01-01 Orrico, A.; Galli, L.; Grosso, S.; Buoni, S.; Pianigiani, R.; Balestri, P.; Sorrentino, V.
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia
2008-01-01 Malandrini, A.; Orrico, A.; Gaudiano, C.; Gambelli, S.; Galli, L.; Berti, G.; Tegazzin, V.; Dotti, M. T.; Federico, A.; Sorrentino, V.
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene
2007-01-01 Orrico, A.; Galli, L.; Obregon, M. G.; de Castro Perez, M. F.; Falciani, M.; Sorrentino, V.
SCN1A mutation associated with atypical Panayiotopoulos syndrome
2007-01-01 Grosso, S.; Orrico, A.; Galli, L.; Di Bartolo, R. M.; Sorrentino, V.; Balestri, P.
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1
2007-01-01 Gambelli, S.; Malandrini, A.; Berti, G.; Gaudiano, C.; Zicari, E.; Brunori, P.; Perticoni, G.; Orrico, A.; Galli, L.; Sorrentino, V.; Lunardi, J.; Federico, A.; Dotti, M. T.
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b
2006-01-01 Lam, C.; Yan, M. S.; Law, T.; Tong, S.; Orrico, A.; Galli, L.; Sorrentino, V.; Benedetti, A.
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy
2006-01-01 Buoni, S.; Orrico, A.; Galli, L.; Zannolli, R.; Burroni, L.; Hayek, J.; Fois, A.; Sorrentino, V.
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia
2006-01-01 Galli, L.; Orrico, A.; Lorenzini, S.; Censini, S.; Falciani, M.; Covacci, A.; Tegazzin, V.; Sorrentino, V.
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q)
2005-01-01 Orrico, A.; Galli, L.; Buoni, S.; Hayek, G.; Luchetti, A.; Lorenzini, S.; Zappella, M.; Pomponi, M. G.; Sorrentino, V.
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
2004-01-01 Orrico, A.; Galli, L.; Cavaliere, M. L.; Garavelli, L.; Fryns, J.; Crushell, E.; Rinaldi, M. M.; Medeira, A.; Sorrentino, V.
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia | 1-gen-2023 | Luongo, Francesca Paola; Luddi, Alice; Ponchia, Rosetta; Ferrante, Rossella; Di Rado, Sara; Paccagnini, Eugenio; Gentile, Mariangela; Lupetti, Pietro; Guazzo, Raffaella; Orrico, Alfredo; Stuppia, Liborio; Piomboni, Paola | - | |
| Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes | 1-gen-2021 | Doddato, G.; Valentino, F.; Giliberti, A.; Papa, F. T.; Tita, R.; Bruno, L. P.; Resciniti, S.; Fallerini, C.; Benetti, E.; Palmieri, M.; Mencarelli, M. A.; Fabbiani, A.; Bruttini, M.; Orrico, A.; Baldassarri, M.; Fava, F.; Lopergolo, D.; Lo Rizzo, C.; Lamacchia, V.; Mannucci, S.; Pinto, A. M.; Curro, A.; Mancini, V.; Mari, F.; Renieri, A.; Ariani, F. | - | |
| Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. | 1-gen-2021 | Doddato, G; Valentino, F; Giliberti, A; Papa, Ft; Tita, R; Bruno, Lp; Resciniti, S; Fallerini, C; Benetti, E; Palmieri, M; Mencarelli, Ma; Fabbiani, A; Bruttini, M; Orrico, A; Baldassarri, M; Fava, F; Lopergolo, D; Lo Rizzo, C; Lamacchia, V; Mannucci, S; Pinto, Am; Currò, A; Mancini, V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est; Mari, F; Renieri, A; Ariani, F | - | |
| Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) | 1-gen-2021 | Doddato, G.; Valentino, F.; Giliberti, A.; Papa, F. T.; Tita, R.; Bruno, L. P.; Resciniti, S.; Fallerini, C.; Benetti, E.; Palmieri, M.; Mencarelli, M. A.; Fabbiani, A.; Bruttini, M.; Orrico, A.; Baldassarri, M.; Fava, F.; Lopergolo, D.; Rizzo, C. L.; Lamacchia, V.; Mannucci, S.; Pinto, A. M.; Curro, A.; Mancini, V.; Mari, F.; Renieri, A.; Ariani, F. | - | |
| AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases | 1-gen-2018 | Taglia, I.; Di Donato, I.; Bianchi, S.; Cerase, A.; Monti, L.; Marconi, R.; Orrico, A.; Rufa, A.; Federico, A.; Dotti, M. T. | - | |
| Molecular dissection using array comparative genomic hybridization and clinical evaluation of an infertile male carrier of an unbalanced Y;21 traslocation:A case report and rewiew of the literature | 1-gen-2016 | Orrico, Alfredo; Marseglia, ; Pescucci, Chiara; Cortesi, A; Piomboni, Paola; Giansanti, A; Gerundino, Francesca; Ponchietti, Roberto | - | |
| Polymorphism of cytochrome P450 2D6 and its clinical significance in a sample of 73 consecutive patients | 1-gen-2014 | Amodeo, G.; Blardi, P.; De Lalla, A.; Galli, L.; Orrico, A.; Koukouna, D.; Bossini, L.; Fagiolini, A. | - | |
| Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene | 1-gen-2010 | Orrico, A.; Galli, L.; Faivre, L.; Clayton-Smith, J.; Azzarello-Burri, S. M.; Hertz, J. M.; Jacquemont, S.; Taurisano, R.; Carrera, I. A.; Tarantino, E.; Devriendt, K.; Melis, D.; Thelle, T.; Meinhardt, U.; Sorrentino, V. | - | |
| Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication | 1-gen-2009 | Orrico, A.; Zollino, M.; Galli, L.; Buoni, S.; Marangi, G.; Sorrentino, V. | - | |
| Novel PTEN mutations in neurodevelopmental disorders and macrocephaly | 1-gen-2009 | Orrico, A.; Galli, L.; Buoni, S.; Orsi, A.; Vonella, G.; Sorrentino, V. | - | |
| Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies | 1-gen-2009 | Orrico, A.; Galli, L.; Grosso, S.; Buoni, S.; Pianigiani, R.; Balestri, P.; Sorrentino, V. | - | |
| Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia | 1-gen-2008 | Malandrini, A.; Orrico, A.; Gaudiano, C.; Gambelli, S.; Galli, L.; Berti, G.; Tegazzin, V.; Dotti, M. T.; Federico, A.; Sorrentino, V. | - | |
| Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene | 1-gen-2007 | Orrico, A.; Galli, L.; Obregon, M. G.; de Castro Perez, M. F.; Falciani, M.; Sorrentino, V. | - | |
| SCN1A mutation associated with atypical Panayiotopoulos syndrome | 1-gen-2007 | Grosso, S.; Orrico, A.; Galli, L.; Di Bartolo, R. M.; Sorrentino, V.; Balestri, P. | - | |
| Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 | 1-gen-2007 | Gambelli, S.; Malandrini, A.; Berti, G.; Gaudiano, C.; Zicari, E.; Brunori, P.; Perticoni, G.; Orrico, A.; Galli, L.; Sorrentino, V.; Lunardi, J.; Federico, A.; Dotti, M. T. | - | |
| Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b | 1-gen-2006 | Lam, C.; Yan, M. S.; Law, T.; Tong, S.; Orrico, A.; Galli, L.; Sorrentino, V.; Benedetti, A. | - | |
| SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy | 1-gen-2006 | Buoni, S.; Orrico, A.; Galli, L.; Zannolli, R.; Burroni, L.; Hayek, J.; Fois, A.; Sorrentino, V. | - | |
| Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia | 1-gen-2006 | Galli, L.; Orrico, A.; Lorenzini, S.; Censini, S.; Falciani, M.; Covacci, A.; Tegazzin, V.; Sorrentino, V. | - | |
| Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q) | 1-gen-2005 | Orrico, A.; Galli, L.; Buoni, S.; Hayek, G.; Luchetti, A.; Lorenzini, S.; Zappella, M.; Pomponi, M. G.; Sorrentino, V. | - | |
| Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients | 1-gen-2004 | Orrico, A.; Galli, L.; Cavaliere, M. L.; Garavelli, L.; Fryns, J.; Crushell, E.; Rinaldi, M. M.; Medeira, A.; Sorrentino, V. | - |
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