Výsledky vyhledávání - Luisa De Sanctis

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  1. 1
    Diagnosis and Treatment of Neonatal Diabetes Caused by ATP-Channel Mutations: Genetic Insights, Sulfonylurea Therapy, and Future Directions

    Diagnosis and Treatment of Neonatal Diabetes Caused by ATP-Channel Mutations: Genetic Insights, Sulfonylurea Therapy, and Future Directions Autor Michela Trada, Chiara Novara, Martina Moretto, Edoardo Burzi, Davide Tinti, Luisa De Sanctis

    Vydáno 2025
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  2. 2
    High Fat Diet and Polycystic Ovary Syndrome (PCOS) in Adolescence: An Overview of Nutritional Strategies

    High Fat Diet and Polycystic Ovary Syndrome (PCOS) in Adolescence: An Overview of Nutritional Strategies Autor Valeria Calcaterra, Vittoria Carlotta Magenes, Giulia Massini, Luisa De Sanctis, Valentina Fabiano, Gian Vincenzo Zuccotti

    Vydáno 2024
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  3. 3
    Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

    Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-r... Autor Susanne Thiele, Luisa De Sanctis, Ralf Werner, Joachim Grötzinger, Cumhur Aydın, Harald Jüppner, Murat Bastepe, Olaf Hiort

    Vydáno 2011
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  4. 4
    Sick days glycaemic outcomes in a cohort of children and adolescents with type 1 diabetes using an <scp>AID</scp> system—A preliminary report

    Sick days glycaemic outcomes in a cohort of children and adolescents with type 1 diabetes using an <scp>AID</scp> system—A preliminary report Autor Davide Tinti, Cecilia Nobili, Gioia Bettin, Enrico Roggero, Alessandra Bondanese, Michela Trada, Alessia Gerace, Luisa De Sanctis

    Vydáno 2025
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  5. 5
    Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of<i>GNAS</i>Inactivating Mutations

    Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of<i>GNAS</i>Inactivating Mutations Autor Francesca Marta Elli, Luisa deSanctis, Barbara Ceoloni, Anna Maria Barbieri, Paolo Bordogna, Paolo Beck‐Peccoz, Anna Spada, Giovanna Mantovani

    Vydáno 2012
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  6. 6
    Autosomal Dominant Pseudohypoparathyroidism Type Ib: A Novel Inherited Deletion Ablating<i>STX16</i>Causes Loss of Imprinting at the A/B DMR

    Autosomal Dominant Pseudohypoparathyroidism Type Ib: A Novel Inherited Deletion Ablating<i>STX16</i>Causes Loss of Imprinting at the A/B DMR Autor Francesca Marta Elli, Luisa De Sanctis, Erika Peverelli, Paolo Bordogna, Barbara Pivetta, Gianmaria Miolo, Paolo Beck‐Peccoz, Anna Spada, Giovanna Mantovani

    Vydáno 2014
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  7. 7
    Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

    Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Autor Marı́a Julia Calonge, V. Volpini, Luigi Bisceglia, F. Rousaud, Luisa De Sanctis, Ercole Beccia, Leopoldo Zelante, Xavier Testar, António Zorzano, Xavier Estivill

    Vydáno 1995
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  8. 8
    Quantitative Analysis of Methylation Defects and Correlation With Clinical Characteristics in Patients With Pseudohypoparathyroidism Type I and GNAS Epigenetic Alterations

    Quantitative Analysis of Methylation Defects and Correlation With Clinical Characteristics in Patients With Pseudohypoparathyroidism Type I and GNAS Epigenetic Alterations Autor Francesca Marta Elli, Luisa De Sanctis, Valentina Bollati, Letizia Tarantini, Marcello Filopanti, Anna Maria Barbieri, Erika Peverelli, Paolo Beck‐Peccoz, Anna Spada, Giovanna Mantovani

    Vydáno 2014
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  9. 9
    Screening of <i>PRKAR1A</i> and <i>PDE4D</i> in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

    Screening of <i>PRKAR1A</i> and <i>PDE4D</i> in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism Autor Francesca Marta Elli, Paolo Bordogna, Luisa De Sanctis, Federica Giachero, Elisa Verrua, Maria Segni, Laura Mazzanti, Valentina Boldrin, Alma Toromanović, Anna Spada, Giovanna Mantovani

    Vydáno 2016
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  10. 10
    Recombinant Human GH Replacement Therapy in Children with Pseudohypoparathyroidism Type Ia: First Study on the Effect on Growth

    Recombinant Human GH Replacement Therapy in Children with Pseudohypoparathyroidism Type Ia: First Study on the Effect on Growth Autor Giovanna Mantovani, Emanuele Ferrante, Claudia Giavoli, Agnès Linglart, Marco Cappa, Mariangela Cisternino, Mohamad Maghnie, Lucia Ghizzoni, Luisa De Sanctis, Andrea Lania, Paolo Beck‐Peccoz, Anna Spada

    Vydáno 2010
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  11. 11
    The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network

    The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network Autor Francesca Marta Elli, Agnès Linglart, Intza Garin, Luisa De Sanctis, Paolo Bordogna, Virginie Grybek, Arrate Pereda, Federica Giachero, Elisa Verrua, Patrick Hanna, Giovanna Mantovani, Guiomar Pérez de Nanclares

    Vydáno 2016
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  12. 12
    Accuracy of Fine Needle Aspiration Biopsy of Thyroid Nodules in Detecting Malignancy in Childhood: Comparison with Conventional Clinical, Laboratory, and Imaging Approaches

    Accuracy of Fine Needle Aspiration Biopsy of Thyroid Nodules in Detecting Malignancy in Childhood: Comparison with Conventional Clinical, Laboratory, and Imaging Approaches Autor Andrea Corrias, S. Einaudi, E Chiorboli, Giovanna Weber, Antonino Crinò, María Andreo Galera, G Cesaretti, Luisa De Sanctis, Maria Francesca Messina, Mattia Di Segni, M. Giulia Cicchetti, Maria Cristina Vigone, Anna Maria Pasquino, S. Spera, F. De Luca, G. C. Mussa, Gianni Bona

    Vydáno 2001
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  13. 13
    Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers

    Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers Autor Luca Dello Strologo, Elon Pras, C. Pontesilli, Ercole Beccia, Vittorino Ricci-Barbini, Luisa De Sanctis, Alberto Ponzone, Michele Gallucci, Luigi Bisceglia, Leopoldo Zelante, Maite Jiménez-Vidal, Mariona Font, António Zorzano, F. Rousaud, Virginia Nunes, Paolo Gasparini, Manuel PalaciCombining Acute Accentn, Gianfranco Rizzoni

    Vydáno 2002
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  14. 14
    Skeptical Look at the Clinical Implication of Metabolic Syndrome in Childhood Obesity

    Skeptical Look at the Clinical Implication of Metabolic Syndrome in Childhood Obesity Autor Małgorzata Waśniewska, Giorgia Pepe, Tommaso Aversa, Simonetta Bellone, Luisa De Sanctis, Procolo Di Bonito, Maria Felicia Faienza, Nicola Improda, Maria Rosaria Licenziati, Claudio Maffeis, Alice Maguolo, Giuseppina Patti, Barbara Predieri, Mariacarolina Salerno, Stefano Stagi, Maria Elisabeth Street, Giuliana Valerio, Domenico Corica, Valeria Calcaterra

    Vydáno 2023
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  15. 15
    Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity

    Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity Autor Patrick Hanna, Virginie Grybek, Guiomar Pérez de Nanclares, Léa C Tran, Luisa De Sanctis, Francesca Marta Elli, Javier Errea, Bruno Francou, Peter Kamenický, Léa Linglart, Arrate Pereda, Anya Rothenbühler, Daniele Tessaris, Susanne Thiele, Alessia Usardi, Ashley H. Shoemaker, Marie-Laure Kottler, Harald Jüppner, Giovanna Mantovani, Agnès Linglart

    Vydáno 2018
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  16. 16
    X-linked hypophosphatemic rickets: an Italian experts’ opinion survey

    X-linked hypophosphatemic rickets: an Italian experts’ opinion survey Autor Francesco Emma, Marco Cappa, Franco Antoniazzi, Maria Luisa Bianchi, Iacopo Chiodini, Cristina Eller Vainicher, Natascia Di Iorgi, Mohamad Maghnie, Alessandra Cassio, Antonio Balsamo, Federico Baronio, Luisa De Sanctis, Daniele Tessaris, Giampiero I. Baroncelli, Stefano Mora, Maria Luisa Brandi, Giovanna Weber, A D’Ausilio, E. P. Lanati

    Vydáno 2019
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  17. 17
    Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

    Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and th... Autor A.S. Paul van Trotsenburg, Athanasia Stoupa, Juliane Léger, Tilman Rohrer, Catherine Peters, Laura Fugazzola, Alessandra Cassio, Claudine Heinrichs, Véronique Beauloye, Joachim Pohlenz, Patrice Rodien, R. Coutant, Gabor Szinnai, Philip Murray, Beate Bartès, Dominique Luton, Mariacarolina Salerno, Luisa De Sanctis, Mariacristina Vigone, Heiko Krude, Luca Persani, Michel Polak

    Vydáno 2020
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  18. 18
    From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

    From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network Autor Susanne Thiele, Giovanna Mantovani, Anne Barlier, Valentina Boldrin, Paolo Bordogna, Luisa De Sanctis, Francesca Marta Elli, Kathleen Freson, Intza Garin, Virginie Grybek, Patrick Hanna, Benedetta Izzi, Olaf Hiort, Beatriz Lecumberri, Arrate Pereda, Vrinda Saraff, Caroline Silve, Serap Turan, Alessia Usardi, Ralf Werner, Guiomar Pérez de Nanclares, Agnès Linglart

    Vydáno 2016
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  19. 19
    Use of gonadotropin-releasing hormone agonists in transgender and gender diverse youth: a systematic review

    Use of gonadotropin-releasing hormone agonists in transgender and gender diverse youth: a systematic review Autor Gianluca Tornese, Raffaella Di Mase, Jessica Munarin, Silvia Ciancia, Fabiana Santamaria, Daniela Fava, Egidio Candela, Donatella Capalbo, Carla Ungaro, Nicola Improda, Pierluigi Diana, Patrizia Matarazzo, Laura Guazzarotti, Tommaso Toschetti, Vanessa Sambati, Gianluca Tamaro, Giulia Bresciani, Maria Rosaria Licenziati, Maria Elisabeth Street, Tommaso Aversa, Maurizio Delvecchio, Maria Felicia Faienza, Lorenzo Iughetti, Valeria Calcaterra, Luisa De Sanctis, Salerno Mariacarolina, Roberto Franceschi

    Vydáno 2025
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  20. 20
    Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients

    Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients Autor Silvia Garelli, Miriam Dalla Costa, Chiara Sabbadin, Susi Barollo, Beatrice Rubin, Riccardo Scarpa, Stefano Masiero, Alessandra Fierabracci, Carla Bizzarri, Antonino Crinò, Marco Cappa, Mariella Valenzise, Antonella Meloni, Alexander Bellis, Carla Giordano, Fabio Presotto, Roberto Perniola, Donatella Capalbo, Mariacarolina Salerno, Antonio Stigliano, Giorgio Radetti, Valentina Camozzi, Nella Augusta Greggio, Fausto Bogazzi, Iacopo Chiodini, Uberto Pagotto, Sarah Black, S. Chen, Bernard Rees Smith, Jadwiga Furmaniak, Giovanna Weber, Francesca Pigliaru, Luisa De Sanctis, Carla Scaroni, Corrado Betterle

    Vydáno 2021
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