Hasil Pencarian - Vito Guarnieri

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  1. 1
    Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice

    Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice oleh Emanuele Agolini, Roberto Chimenz, Danilo Fintini, Vito Guarnieri, Laura Guazzarotti, Stefano Mora, Leonardo Salviati, Giovanna Weber

    Diterbitkan 2021-04-01
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  2. 2
    Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor

    Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor oleh Serena Palmieri, Giorgia Grassi, Vito Guarnieri, Iacopo Chiodini, Iacopo Chiodini, Maura Arosio, Maura Arosio, Cristina Eller-Vainicher

    Diterbitkan 2022-01-01
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  3. 3
    Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

    Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the... oleh Luigia Cinque, Cristina Angeletti, Alfredo Orrico, Stefano Castellana, Lucia Ferrito, Cristina Ciuoli, Tommaso Mazza, Marco Castori, Vito Guarnieri

    Diterbitkan 2020-12-01
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  4. 4
    Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

    Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation oleh Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di lorgi, Maria Accadia, Cristina Traggiai, Girolamo Mattioli, Antonio Di Mauro, Nicola Laforgia

    Diterbitkan 2018-10-01
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  5. 5
    Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

    Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation oleh Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di Iorgi, Maria Accadia, Cristina Traggiai, Girolamo Mattioli, Antonio Di Mauro, Nicola Laforgia

    Diterbitkan 2019-11-01
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  6. 6
    Imaging technologies in the differential diagnosis and follow-up of brown tumor in primary hyperparathyroidism: Case report and review of the literature

    Imaging technologies in the differential diagnosis and follow-up of brown tumor in primary hyperparathyroidism: Case report and review of the literature oleh Davide Diacinti, Cristiana Cipriani, Federica Biamonte, Jessica Pepe, Luciano Colangelo, Endi Kripa, Antonio Iannacone, Martina Orlandi, Vito Guarnieri, Daniele Diacinti, Salvatore Minisola

    Diterbitkan 2021-06-01
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  7. 7
    Multiple Endocrine Neoplasia Type 1 Regulates TGFβ-Mediated Suppression of Tumor Formation and Metastasis in Melanoma

    Multiple Endocrine Neoplasia Type 1 Regulates TGFβ-Mediated Suppression of Tumor Formation and Metastasis in Melanoma oleh Julien Boudreault, Lucie Canaff, Mostafa Ghozlan, Ni Wang, Vito Guarnieri, Antonio Stefano Salcuni, Alfredo Scillitani, David Goltzman, Suhad Ali, Jean-Jacques Lebrun

    Diterbitkan 2024-06-01
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  8. 8
    Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

    Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family oleh Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy, David E. C. Cole

    Diterbitkan 2017-08-01
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  9. 9
    Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

    Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family oleh Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy, David E.C. Cole

    Diterbitkan 2017-09-01
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  10. 10
    Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma

    Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma oleh Luigia Cinque, Flavia Pugliese, Celeste Clemente, Stefano Castellana, Maria Pia Leone, Danilo de Martino, Teresa Balsamo, Claudia Battista, Tommaso Biagini, Paolo Graziano, Marco Castori, Alfredo Scillitani, Vito Guarnieri

    Diterbitkan 2020-01-01
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  11. 11
    Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors

    Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors oleh Giulia Stefania Tavanti, Chiara Verdelli, Annamaria Morotti, Paola Maroni, Vito Guarnieri, Alfredo Scillitani, Rosamaria Silipigni, Silvana Guerneri, Riccardo Maggiore, Gilberto Mari, Leonardo Vicentini, Paolo Dalino Ciaramella, Valentina Vaira, Sabrina Corbetta

    Diterbitkan 2021-02-01
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  12. 12
    Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene

    Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene oleh Giovannina Rotundo, Elisa Maria Turco, Giorgia Ruotolo, Isabella Torrente, Ornella Candido, Gianluca Lopez, Daniela Ferrari, Caterina Caputi, Mario Mastrangelo, Francesco Pisani, Maurizio Gelati, Vito Guarnieri, Angelo Luigi Vescovi, Jessica Rosati

    Diterbitkan 2023-03-01
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  13. 13
    MEN1 gene mutation with parathyroid carcinoma: first report of a familial case

    MEN1 gene mutation with parathyroid carcinoma: first report of a familial case oleh Luigia Cinque, Angelo Sparaneo, Antonio S Salcuni, Danilo de Martino, Claudia Battista, Francesco Logoluso, Orazio Palumbo, Roberto Cocchi, Evaristo Maiello, Paolo Graziano, Geoffrey N Hendy, David E C Cole, Alfredo Scillitani, Vito Guarnieri

    Diterbitkan 2017-11-01
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  14. 14
    The Long Non-Coding BC200 Is a Novel Circulating Biomarker of Parathyroid Carcinoma

    The Long Non-Coding BC200 Is a Novel Circulating Biomarker of Parathyroid Carcinoma oleh Annamaria Morotti, Annamaria Morotti, Filomena Cetani, Giulia Passoni, Simona Borsari, Elena Pardi, Vito Guarnieri, Chiara Verdelli, Giulia Stefania Tavanti, Giulia Stefania Tavanti, Luca Valenti, Luca Valenti, Cristiana Bianco, Stefano Ferrero, Stefano Ferrero, Sabrina Corbetta, Sabrina Corbetta, Valentina Vaira, Valentina Vaira

    Diterbitkan 2022-05-01
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  15. 15
    Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.

    Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene. oleh Valerio Pazienza, Annamaria la Torre, Filomena Baorda, Michela Alfarano, Massimiliano Chetta, Lucia Anna Muscarella, Claudia Battista, Massimiliano Copetti, Dieter Kotzot, Klaus Kapelari, Dalia Al-Abdulrazzaq, Kusiel Perlman, Etienne Sochett, David E C Cole, Fabio Pellegrini, Lucie Canaff, Geoffrey N Hendy, Leonardo D'Agruma, Leopoldo Zelante, Massimo Carella, Alfredo Scillitani, Vito Guarnieri

    Diterbitkan 2013-01-01
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  16. 16
    Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia

    Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia oleh Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri

    Diterbitkan 2023-08-01
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