Hasil Pencarian - Filomena Cariola

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  1. 1
    A novel STK11 gene mutation (c.388dupG, p.Glu130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107-170

    A novel STK11 gene mutation (c.388dupG, p.Glu130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region... oleh Giovanna Forte, Filomena Cariola, Katia De Marco, Andrea Manghisi, Filomena Anna Guglielmi, Raffaele Armentano, Giuseppe Lippolis, Pietro Giorgio, Cristiano Simone, Vittoria Disciglio

    Diterbitkan 2022-03-01
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  2. 2
    Corrigendum to ‘A novel STK11 gene mutation (c.388dupG, p.Glu130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107–170’ [Gene Dis (9) (2022) 288–291]

    Corrigendum to ‘A novel STK11 gene mutation (c.388dupG, p.Glu130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations... oleh Giovanna Forte, Filomena Cariola, Katia De Marco, Andrea Manghisi, Filomena Anna Guglielmi, Raffaele Armentano, Giuseppe Lippolis, Pietro Giorgio, Cristiano Simone, Vittoria Disciglio

    Diterbitkan 2024-03-01
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  3. 3
    Identification of a novel germline APC N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis

    Identification of a novel germline APC N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis oleh Giovanna Forte, Valentina Grossi, Filomena Cariola, Antonia Lucia Buonadonna, Paola Sanese, Katia De Marco, Candida Fasano, Martina Lepore Signorile, Vittoria Disciglio, Cristiano Simone

    Diterbitkan 2024-11-01
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  4. 4
    Clinical and Molecular Characterization of <i>SMAD4</i> Splicing Variants in Patients with Juvenile Polyposis Syndrome

    Clinical and Molecular Characterization of <i>SMAD4</i> Splicing Variants in Patients with Juvenile Polyposis Syndrome oleh Giovanna Forte, Antonia Lucia Buonadonna, Candida Fasano, Paola Sanese, Filomena Cariola, Andrea Manghisi, Anna Filomena Guglielmi, Martina Lepore Signorile, Katia De Marco, Valentina Grossi, Vittoria Disciglio, Cristiano Simone

    Diterbitkan 2024-07-01
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  5. 5
    Corrigendum to ‘Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes’ [Gene Dis (10) (2023), 1187–1189]

    Corrigendum to ‘Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes’ [Gene Dis (10) (2023), 1187–1189] oleh Giovanna Forte, Filomena Cariola, Antonia Lucia Buonadonna, Anna Filomena Guglielmi, Andrea Manghisi, Katia De Marco, Valentina Grossi, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Rosanna Bagnulo, Nicoletta Resta, Vittoria Disciglio, Cristiano Simone

    Diterbitkan 2024-03-01
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  6. 6
    Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes

    Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes oleh Giovanna Forte, Filomena Cariola, Antonia Lucia Buonadonna, Anna Filomena Guglielmi, Andrea Manghisi, Katia De Marco, Valentina Grossi, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Rosanna Bagnulo, Nicoletta Resta, Vittoria Disciglio, Cristiano Simone

    Diterbitkan 2023-07-01
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  7. 7
    Classic Galactosemia: Clinical and Computational Characterization of a Novel <i>GALT</i> Missense Variant (p.A303D) and a Literature Review

    Classic Galactosemia: Clinical and Computational Characterization of a Novel <i>GALT</i> Missense Variant (p.A303D) and a Literature Review oleh Giovanna Forte, Antonia Lucia Buonadonna, Antonino Pantaleo, Candida Fasano, Donatella Capodiferro, Valentina Grossi, Paola Sanese, Filomena Cariola, Katia De Marco, Martina Lepore Signorile, Andrea Manghisi, Anna Filomena Guglielmi, Simonetta Simonetti, Nicola Laforgia, Vittoria Disciglio, Cristiano Simone

    Diterbitkan 2023-12-01
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  8. 8
    Exploring the Relationship of rs2802292 with Diabetes and NAFLD in a Southern Italian Cohort—Nutrihep Study

    Exploring the Relationship of rs2802292 with Diabetes and NAFLD in a Southern Italian Cohort—Nutrihep Study oleh Giovanna Forte, Rossella Donghia, Martina Lepore Signorile, Rossella Tatoli, Caterina Bonfiglio, Francesco Losito, Katia De Marco, Andrea Manghisi, Filomena Anna Guglielmi, Vittoria Disciglio, Candida Fasano, Paola Sanese, Filomena Cariola, Antonia Lucia Buonadonna, Valentina Grossi, Gianluigi Giannelli, Cristiano Simone

    Diterbitkan 2024-09-01
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