Výsledky vyhledávání - Anya Rothenbühler

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  1. 1
    Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH)

    Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH) Autor Anya Rothenbühler, Dirk Schnabel, Wolfgang Högler, Agnès Linglart

    Vydáno 2019
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  2. 2
    X-linked hypophosphatemia: Management and treatment prospects

    X-linked hypophosphatemia: Management and treatment prospects Autor Anne-Sophie Lambert, Volha V. Zhukouskaya, Anya Rothenbühler, Agnès Linglart

    Vydáno 2019
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  3. 3
    Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood

    Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood Autor Pierre Bougnères, Létitia Pantalone, Agnès Linglart, Anya Rothenbühler, Catherine Le Stunff

    Vydáno 2008
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  4. 4
    Long-Term Results of Continuous Subcutaneous Recombinant PTH (1-34) Infusion in Children with Refractory Hypoparathyroidism

    Long-Term Results of Continuous Subcutaneous Recombinant PTH (1-34) Infusion in Children with Refractory Hypoparathyroidism Autor Agnès Linglart, Anya Rothenbühler, Iva Gueorgieva, Philippe Lucchini, Caroline Silve, Pierre Bougnères

    Vydáno 2011
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  5. 5
    Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms

    Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms Autor Hélène Che, Christian Roux, Adrien Etcheto, Anya Rothenbühler, Peter Kamenický, Agnès Linglart, Karine Briot

    Vydáno 2016
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  6. 6
    Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR)

    Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR) Autor Aliette Gizard, Anya Rothenbühler, Zagorka Péjin, G Finidori, C. Glorion, B. de Billy, Agnès Linglart, Philippe Wicart

    Vydáno 2017
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  7. 7
    High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR)

    High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR) Autor Anya Rothenbühler, Nathalie Fadel, Yahya Debza, Justine Bacchetta, Mamadou Tidiane Diallo, C. Adamsbaum, Agnès Linglart, Federico Di Rocco

    Vydáno 2018
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  8. 8
    Haplotype Analysis of the Promoter Region of Phosphodiesterase Type 8B (<i>PDE8B</i>) in Correlation with Inactivating <i>PDE8B</i> Mutation and the Serum Thyroid-Stimulating Hormone Levels

    Haplotype Analysis of the Promoter Region of Phosphodiesterase Type 8B (<i>PDE8B</i>) in Correlation with Inactivating <i>PDE8B</i> Mutation and the Serum Thyroid-Stimulating Hormo... Autor Anélia Horvath, Fábio R. Faucz, Gabriela P. Finkielstain, Maria Nikita, Anya Rothenbühler, Madson Q. Almeida, Verónica Mericq, Constantine A. Stratakis

    Vydáno 2010
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  9. 9
    Therapeutic management of hypophosphatemic rickets from infancy to adulthood

    Therapeutic management of hypophosphatemic rickets from infancy to adulthood Autor Agnès Linglart, Martin Biosse Duplan, Karine Briot, Catherine Chaussain, Laure Esterle, S. Guillaume-Czitrom, Peter Kamenický, J. Nevoux, Dominique Prié, Anya Rothenbühler, Philippe Wicart, Pol Harvengt

    Vydáno 2014
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  10. 10
    Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia

    Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia Autor Volha V. Zhukouskaya, Anya Rothenbühler, Annamaria Colao, Carolina Di Somma, Peter Kamenický, Séverine Trabado, Dominique Prié, Christelle Audrain, Anna Barosi, Christèle Kyheng, Anne-Sophie Lambert, Agnès Linglart

    Vydáno 2020
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  11. 11
    Identification of novel genetic variants in phosphodiesterase 8B (<scp><i>PDE8B</i></scp>), a <scp>cAMP</scp>‐specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours

    Identification of novel genetic variants in phosphodiesterase 8B (<scp><i>PDE8B</i></scp>), a <scp>cAMP</scp>‐specific phosphodiesterase highly expressed in the adrenal cortex, in... Autor Anya Rothenbühler, Anélia Horvath, Rossella Libé, Fábio R. Faucz, Amato Fratticci, Marie Sanson, Delphine Vezzosi, Monalisa Ferreira Azevedo, Isaak Levy, Madson Q. Almeida, Maya Lodish, Maria Nesterova, Jérôme Bertherat, Constantine A. Stratakis

    Vydáno 2012
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  12. 12
    Hyperparathyroidism in Patients With X-Linked Hypophosphatemia

    Hyperparathyroidism in Patients With X-Linked Hypophosphatemia Autor Anne-Lise Lecoq, Philippe Chaumet‐Riffaud, Anne Blanchard, Margot Dupeux, Anya Rothenbühler, Benoît Lambert, Emmanuel Durand, Emese Boros, Karine Briot, Caroline Silve, Bruno Francou, Marie Piketty, Philippe Chanson, Sylvie Brailly‐Tabard, Agnès Linglart, Peter Kamenický

    Vydáno 2020
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  13. 13
    Phosphodiesterase 11A (<i>PDE11A</i>) Genetic Variants May Increase Susceptibility to Prostatic Cancer

    Phosphodiesterase 11A (<i>PDE11A</i>) Genetic Variants May Increase Susceptibility to Prostatic Cancer Autor Fábio R. Faucz, Anélia Horvath, Anya Rothenbühler, Madson Q. Almeida, Rossella Libé, Marie-Laure Raffin-Sanson, Jérôme Bertherat, Dirce Maria Carraro, Fernando Augusto Soares, Gustavo de Campos Molina, Antônio Hugo José Fróes Marques Campos, Rodrigo Bertollo de Alexandre, Marcelo L. Bendhack, Maria Nesterova, Constantine A. Stratakis

    Vydáno 2010
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  14. 14
    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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  15. 15
    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 Autor 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

    Vydáno 2020
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  16. 16
    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement Autor 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

    Vydáno 2018
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  17. 17
    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement Autor 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

    Vydáno 2018
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  18. 18
    Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination

    Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination Autor Aurélien Sokal, Paul Bastard, Pascal Chappert, Giovanna Barba–Spaeth, Slim Fourati, Alexis Vanderberghe, Pauline Lagouge-Roussey, Isabelle Meyts, Adrian Gervais, Magali Bouvier‐Alias, Imane Azzaoui, I. Fernández, A. SELLE, Qian Zhang, Lucy Bizien, Isabelle Pellier, Agnès Linglart, Anya Rothenbühler, Estelle Marcoux, Raphaël Anxionnat, Nathalie Cheikh, Juliane Léger, Blanca Amador-Borrero, Fanny Fouyssac, Vanessa Menut, Jean‐Christophe Goffard, Caroline Storey, Caroline Demily, Coralie Mallebranche, Jesús Troya, Aurora Pujol, Marie Zins, Pierre Tiberghien, Paul Gray, Peter McNaughton, Anna Sullivan, Jane Peake, Romain Lévy, Laetitia Languille, Carlos Rodríguez‐Gallego, Bertrand Boisson, Sébastien Gallien, Bénédicte Neven, Marc Michel, Bertrand Godeau, Laurent Abel, F.A. Rey, Jean‐Claude Weill, Claude‐Agnès Reynaud, Stuart G. Tangye, Jean‐Laurent Casanova, Matthieu Mahévas

    Vydáno 2022
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  19. 19
    Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

    Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1 Autor Paul Bastard, Elizaveta Orlova, Leila Sozaeva, Romain Lévy, Alyssa James, Monica M. Schmitt, Sebastian Ochoa, Maria Kareva, Yulia Rodina, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Anna‐Lena Neehus, Elana Shaw, Mélanie Migaud, Lucy Bizien, Olov Ekwall, Stefan Berg, Guglielmo Beccuti, Lucia Ghizzoni, G. Thiriez, Arthur Pavot, Cécile Goujard, Marie‐Louise Frémond, Edwin Carter, Anya Rothenbühler, Agnès Linglart, B Mignot, Aurélie Comte, Nathalie Cheikh, Olivier Hermine, Lars Breivik, Eystein S. Husebye, S. Humbert, Pierre‐Simon Rohrlich, A. Coaquette, F. Vuoto, Karine Faure, Nizar Mahlaoui, Primož Kotnik, Tadej Battelino, Katarina Trebušak Podkrajšek, Kai Kisand, Elise M. N. Ferré, Thomas DiMaggio, Lindsey B. Rosen, Peter D. Burbelo, Martin McIntyre, Nelli Y. Kann, Anna Shcherbina, Maria G. Pavlova, Anna Kolodkina, Steven M. Holland, Shen‐Ying Zhang, Yanick J. Crow, Luigi D. Notarangelo, Helen C. Su, Laurent Abel, Mark S. Anderson, Emmanuelle Jouanguy, Bénédicte Neven, Anne Puel, Jean‐Laurent Casanova, Michail S. Lionakis

    Vydáno 2021
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