檢索結果 - Francesca Marta Elli

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  1. 1
    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 由 Francesca Marta Elli, Luisa deSanctis, Barbara Ceoloni, Anna Maria Barbieri, Paolo Bordogna, Paolo Beck‐Peccoz, Anna Spada, Giovanna Mantovani

    出版 2012
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  2. 2
    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 由 Francesca Marta Elli, Luisa De Sanctis, Erika Peverelli, Paolo Bordogna, Barbara Pivetta, Gianmaria Miolo, Paolo Beck‐Peccoz, Anna Spada, Giovanna Mantovani

    出版 2014
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  3. 3
    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 由 Francesca Marta Elli, Luisa De Sanctis, Valentina Bollati, Letizia Tarantini, Marcello Filopanti, Anna Maria Barbieri, Erika Peverelli, Paolo Beck‐Peccoz, Anna Spada, Giovanna Mantovani

    出版 2014
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  4. 4
    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 由 Francesca Marta Elli, Paolo Bordogna, Luisa De Sanctis, Federica Giachero, Elisa Verrua, Maria Segni, Laura Mazzanti, Valentina Boldrin, Alma Toromanović, Anna Spada, Giovanna Mantovani

    出版 2016
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  5. 5
    The microRNA cluster C19MC is deregulated in parathyroid tumours

    The microRNA cluster C19MC is deregulated in parathyroid tumours 由 Valentina Vaira, Francesca Marta Elli, Irene Forno, Vito Guarnieri, Chiara Verdelli, Stefano Ferrero, Alfredo Scillitani, Leonardo Vicentini, Filomena Cetani, Giovanna Mantovani, Anna Spada, Silvano Bòsari, Sabrina Corbetta

    出版 2012
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  6. 6
    Filamin-A Is Essential for Dopamine D2 Receptor Expression and Signaling in Tumorous Lactotrophs

    Filamin-A Is Essential for Dopamine D2 Receptor Expression and Signaling in Tumorous Lactotrophs 由 Erika Peverelli, Giovanna Mantovani, Eleonora Vitali, Francesca Marta Elli, Luca Olgiati, Stefano Ferrero, Edward R. Laws, Pamela Della Mina, Antonello Villa, Paolo Beck‐Peccoz, Anna Spada, Andrea Lania

    出版 2012
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  7. 7
    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 由 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

    出版 2016
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  8. 8
    Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

    Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects 由 Anne Rochtus, Alejandro Martin-Trujillo, Benedetta Izzi, Francesca Marta Elli, Intza Garin, Agnès Linglart, Giovanna Mantovani, Guiomar Pérez de Nanclares, Suzanne Thiele, Brigitte Decallonne, Chris Van Geet, David Monk, Kathleen Freson

    出版 2016
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  9. 9
    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 由 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

    出版 2018
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  10. 10
    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 由 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

    出版 2016
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  11. 11
    Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients 由 Giovanna Mantovani, Murat Bastepe, David Monk, Luisa De Sanctis, Susanne Thiele, S. Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca Marta Elli, Aurora García Ramirez, Emily L. Germain‐Lee, Lionel Groussin, Neveen A. T. Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Elvire Le Norcy, Beatriz Lecumberri, Michael A. Levine, Outi Mäkitie, Regina Matsunaga Martin, Gabriel Ángel Martos‐Moreno, Manasori Minagawa, Philip Murray, Arrate Pereda, Robert J. Pignolo, Lars Rejnmark, Rebeca Rodado, Anya Rothenbühler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip R. Woods, M. Carola Zillikens, Guiomar Pérez de Nanclares, Agnès Linglart

    出版 2020
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  12. 12
    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement 由 Giovanna Mantovani, Beatriz Lecumberri, Murat Bastepe, David Monk, Sanctis Luisa de, Susanne Thiele, Alessia Usardi, Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo DeFilippo, Guillemette Devernois, Thomas Eggermann, Francesca Marta Elli, Kathleen Freson, Aurora García Ramirez, Emily L. Germain‐Lee, Lionel Groussin, Neveen A. T. Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie‐Laure Kottler, Norcy Elvire Le, Michael A. Levine, Outi Mäkitie, Regina Matsunaga Martin, Gabriel Ángel Martos‐Moreno, Masanori Minagawa, Philip I. Murray, Arrate Pereda, Robert J. Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbühler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip R. Woods, M. Carola Zillikens, Guiomar Pérez de Nanclares, Agnès Linglart

    出版 2018
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  13. 13
    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement 由 Giovanna Mantovani, Murat Bastepe, David Monk, Luisa De Sanctis, Susanne Thiele, Alessia Usardi, S. Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca Marta Elli, Kathleen Freson, Aurora García Ramirez, Emily L. Germain‐Lee, Lionel Groussin, Neveen A. T. Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie-Laure Kottler, Elvire Le Norcy, Beatriz Lecumberri, Michael A. Levine, Outi Mäkitie, Regina Matsunaga Martin, Gabriel Ángel Martos‐Moreno, Masanori Minagawa, Philip Murray, Arrate Pereda, Robert J. Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbühler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip R. Woods, M. Carola Zillikens, Guiomar Pérez de Nanclares, Agnès Linglart

    出版 2018
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