Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene
Campopiano, Maria Cristina, Fogli, Antonella, Michelucci, Angela, Mazoni, Laura, Longo, Antonella, Borsari, Simona, Pardi, Elena, Benelli, Elena, Sardella, Chiara, Pierotti, Laura, Dinoi, Elisa, Marcocci, Claudio, Cetani, Filomena
Published in Frontiers in endocrinology (Lausanne) (08.08.2022)
Published in Frontiers in endocrinology (Lausanne) (08.08.2022)
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Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature
Forli, Francesca, Capobianco, Silvia, Berrettini, Stefano, Bruschini, Luca, Romano, Silvia, Fogli, Antonella, Bertini, Veronica, Lazzerini, Francesco
Published in Medicina (Kaunas, Lithuania) (13.02.2023)
Published in Medicina (Kaunas, Lithuania) (13.02.2023)
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Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion
Penco, Silvana, Lunetta, Christian, Corbo, Massimo, Ferrarese, Carlo, Tremolizzo, Lucio, Simi, Paolo, Michelucci, Angela, Fogli, Antonella, Sala, Gessica, Conti, Elisa, Rodriguez-Menendez, Virginia
Published in Case reports in neurological medicine (01.01.2014)
Published in Case reports in neurological medicine (01.01.2014)
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Alterations of Fas (APO-1/CD 95) gene and its relationship with p53 in non small cell lung cancer
BOLDRINI, Laura, FAVIANA, Pinuccia, SIMI, Paolo, BASOLO, Fulvio, FONTANINI, Gabriella, PISTOLESI, Francesca, GISFREDI, Silvia, DI QUIRICO, Dagmar, LUCCHI, Marco, MUSSI, Alfredo, ANGELETTI, Carlo Alberto, BALDINOTTI, Fulvia, FOGLI, Antonella
Published in Oncogene (04.10.2001)
Published in Oncogene (04.10.2001)
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Two contrasting clinical manifestations of amyotrophic lateral sclerosis (ALS) related to FUS mutations
Bianchi, Francesca, Fontanelli, Lorenzo, Galgani, Alessandro, Becattini, Lucrezia, Fogli, Antonella, Siciliano, Gabriele
Published in Journal of the neurological sciences (01.10.2021)
Published in Journal of the neurological sciences (01.10.2021)
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Symptomatic C9ORF72 mutation in non-fluent aphasia without neuroimaging signs of cerebral atrophy: A case study
Fontanelli, Lorenzo, Bianchi, Francesca, Galgani, Alessandro, Frosini, Daniela, Ghicopulos, Irene, Fogli, Antonella, Siciliano, Gabriele
Published in Journal of the neurological sciences (01.10.2021)
Published in Journal of the neurological sciences (01.10.2021)
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Mutations of Fas (APO-1/CD95) and p53 genes in nonmelanoma skin cancer
BOLDRINI, Laura, LOGGINI, Barbara, PINGITORE, Raffaele, FONTANINI, Gabriella, GISFREDI, Silvia, ZUCCONI, Ylenia, BALDINOTTI, Fulvia, FOGLI, Antonella, SIMI, Paolo, CERVADORO, Gregorio, BARACHINI, Paolo, BASOLO, Fulvio
Published in Journal of cutaneous medicine and surgery (01.03.2003)
Published in Journal of cutaneous medicine and surgery (01.03.2003)
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Identification of BRAF 3'UTR Isoforms in Melanoma
Marranci, Andrea, Tuccoli, Andrea, Vitiello, Marianna, Mercoledi, Elisa, Sarti, Samanta, Lubrano, Simone, Evangelista, Monica, Fogli, Antonella, Valdes, Camilo, Russo, Francesco, Monte, Massimo Dal, Caligo, Maria A, Pellegrini, Marco, Capobianco, Enrico, Tsinoremas, Nicholas, Poliseno, Laura
Published in Journal of investigative dermatology (01.06.2015)
Published in Journal of investigative dermatology (01.06.2015)
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Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
Bertini, Veronica, Fogli, Antonella, Bruno, Rossella, Azzarà, Alessia, Michelucci, Angela, Mattina, Teresa, Bertelloni, Silvano, Valetto, Angelo
Published in Molecular syndromology (01.05.2017)
Published in Molecular syndromology (01.05.2017)
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Amyotrophic lateral sclerosis with long lasting disease course and SOD1 and TARDBP mutations: Report of two cases and overview of the literature
Lucchesi, Cinzia, Caldarazzo Ienco, Elena, Fabbrini, Monica, Pasquali, Livia, Lo Gerfo, Annalisa, Fogli, Antonella, Siciliano, Gabriele
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.02.2017)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.02.2017)
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Utilizzo di un pannello di geni in next generation sequencing (NGS) per la ricerca di mutazioni in un gruppo di pazienti affetti da ictus giovanile
VIGNALE, Elisa, COSINI, Cinzia, FOGLI, Antonella, CALIGO, Maria A.
Published in La rivista italiana della medicina di laboratorio (01.05.2022)
Published in La rivista italiana della medicina di laboratorio (01.05.2022)
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Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany
Orsucci, Daniele, Petrucci, Loredana, Ienco, Elena Caldarazzo, Chico, Lucia, Simi, Paolo, Fogli, Antonella, Baldinotti, Fulvia, Simoncini, Costanza, LoGerfo, Annalisa, Carlesi, Cecilia, Arnoldi, Alessia, Bassi, Maria Teresa, Siciliano, Gabriele, Bonuccelli, Ubaldo, Mancuso, Michelangelo
Published in Clinical neurology and neurosurgery (01.05.2014)
Published in Clinical neurology and neurosurgery (01.05.2014)
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Identification of BRAF 3′UTR Isoforms in Melanoma
Marranci, Andrea, Tuccoli, Andrea, Vitiello, Marianna, Mercoledi, Elisa, Sarti, Samanta, Lubrano, Simone, Evangelista, Monica, Fogli, Antonella, Valdes, Camilo, Russo, Francesco, Monte, Massimo Dal, Caligo, Maria A., Pellegrini, Marco, Capobianco, Enrico, Tsinoremas, Nicholas, Poliseno, Laura
Published in Journal of investigative dermatology (01.06.2015)
Published in Journal of investigative dermatology (01.06.2015)
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A new truncating MPZ mutation associated with a very mild CMT1 B phenotype
Piazza, Selina, Baldinotti, Fulvia, Fogli, Antonella, Conidi, Maria Elena, Michelucci, Angela, Ienco, Elena Caldarazzo, Mancuso, Michelangelo, Simi, Paolo, Siciliano, Gabriele
Published in Neuromuscular disorders : NMD (01.12.2010)
Published in Neuromuscular disorders : NMD (01.12.2010)
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Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome
Michelucci, Angela, Ghirri, Paolo, Iacopetti, Paola, Conidi, Maria Elena, Fogli, Antonella, Baldinotti, Fulvia, Lunardi, Sara, Forli, Francesca, Moscuzza, Francesca, Berrettini, Stefano, Boldrini, Antonio, Simi, Paolo, Pellegrini, Silvia
Published in International journal of pediatric otorhinolaryngology (01.12.2010)
Published in International journal of pediatric otorhinolaryngology (01.12.2010)
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Strategies for the isolation and detection of fetal cells in transcervical samples
Bussani, Cecilia, Cioni, Riccardo, Scarselli, Benedetta, Barciulli, Francesco, Bucciantini, Sandra, Simi, Paolo, Fogli, Antonella, Scarselli, Gianfranco
Published in Prenatal diagnosis (01.12.2002)
Published in Prenatal diagnosis (01.12.2002)
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Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly
Fogli, Antonella, Guerrini, Renzo, Moro, Francesca, Fernandez-Alvarez, Emilio, Odile Livet, Marie, Renieri, Alessandra, Cioni, Maddalena, Pilz, Daniela T., Veggiotti, Pierangelo, Rossi, Elena, Ballabio, Andrea, Carrozzo, Romeo
Published in Annals of neurology (01.02.1999)
Published in Annals of neurology (01.02.1999)
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