Resultados de búsqueda - Agnès Linglart

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  1. 1
    <b><i>GNAS</i></b>-Related Loss-of-Function Disorders and the Role of Imprinting

    <b><i>GNAS</i></b>-Related Loss-of-Function Disorders and the Role of Imprinting por Agnès Linglart, Stéphanie Maupetit‐Mehouas, Caroline Silve

    Publicado 2013
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  2. 2
    Pseudohypoparathyroidism

    Pseudohypoparathyroidism por Agnès Linglart, Michael A. Levine, Harald Jüppner

    Publicado 2018
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  3. 3
    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) por Anya Rothenbühler, Dirk Schnabel, Wolfgang Högler, Agnès Linglart

    Publicado 2019
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  4. 4
    X-linked hypophosphatemia: Management and treatment prospects

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

    Publicado 2019
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  5. 5
    Management of X-linked hypophosphatemia in adults

    Management of X-linked hypophosphatemia in adults por Anne-Lise Lecoq, Maria Luisa Brandi, Agnès Linglart, Peter Kamenický

    Publicado 2019
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  6. 6
    A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS

    A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS por Agnès Linglart, Robert Gensure, Robert C. Olney, Harald Jüppner, Murat Bastepe

    Publicado 2005
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  7. 7
    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 por Pierre Bougnères, Létitia Pantalone, Agnès Linglart, Anya Rothenbühler, Catherine Le Stunff

    Publicado 2008
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  8. 8
    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 por Agnès Linglart, Anya Rothenbühler, Iva Gueorgieva, Philippe Lucchini, Caroline Silve, Pierre Bougnères

    Publicado 2011
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  9. 9
    Developments in the Management of Growth Hormone Deficiency: Clinical Utility of Somapacitan

    Developments in the Management of Growth Hormone Deficiency: Clinical Utility of Somapacitan por Bradley S. Miller, Joanne Blair, Reiko Horikawa, Agnès Linglart, Kevin C.J. Yuen

    Publicado 2024
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  10. 10
    Perception of medical education by learners and teachers during the COVID-19 pandemic: a cross-sectional survey of online teaching

    Perception of medical education by learners and teachers during the COVID-19 pandemic: a cross-sectional survey of online teaching por Emmanuelle Motte‐Signoret, Antoine Labbé, Grégoire Benoist, Agnès Linglart, Vincent Gajdos, Alexandre Lapillonne

    Publicado 2021
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  11. 11
    Tooth dentin defects reflect genetic disorders affecting bone mineralization

    Tooth dentin defects reflect genetic disorders affecting bone mineralization por Sibylle Vital, Céline Gaucher, Claire Bardet, Peter Rowe, Anne George, Agnès Linglart, Catherine Chaussain

    Publicado 2012
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  12. 12
    <i>GNAS1</i>Lesions in Pseudohypoparathyroidism Ia and Ic: Genotype Phenotype Relationship and Evidence of the Maternal Transmission of the Hormonal Resistance

    <i>GNAS1</i>Lesions in Pseudohypoparathyroidism Ia and Ic: Genotype Phenotype Relationship and Evidence of the Maternal Transmission of the Hormonal Resistance por Agnès Linglart, Jean‐Claude Carel, Michèle Garabédian, Tran Lé, E. Mallet, Marie-Laure Kottler

    Publicado 2002
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  13. 13
    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 por Hélène Che, Christian Roux, Adrien Etcheto, Anya Rothenbühler, Peter Kamenický, Agnès Linglart, Karine Briot

    Publicado 2016
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  14. 14
    Multilocus methylation defects in imprinting disorders

    Multilocus methylation defects in imprinting disorders por Deborah Mackay, Thomas Eggermann, Karin Buiting, Intza Garin, Irène Netchine, Agnès Linglart, Guiomar Pérez de Nanclares

    Publicado 2015
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  15. 15
    Mechanisms of Ligand Binding to the Parathyroid Hormone (PTH)/PTH-Related Protein Receptor: Selectivity of a Modified PTH(1–15) Radioligand for GαS-Coupled Receptor Conformations

    Mechanisms of Ligand Binding to the Parathyroid Hormone (PTH)/PTH-Related Protein Receptor: Selectivity of a Modified PTH(1–15) Radioligand for GαS-Coupled Receptor Conformations... por Thomas Dean, Agnès Linglart, Matthew J. Mahon, Murat Bastepe, Harald Jüppner, John T. Potts, Thomas J. Gardella

    Publicado 2005
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  16. 16
    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) por Aliette Gizard, Anya Rothenbühler, Zagorka Péjin, G Finidori, C. Glorion, B. de Billy, Agnès Linglart, Philippe Wicart

    Publicado 2017
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  17. 17
    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) por Anya Rothenbühler, Nathalie Fadel, Yahya Debza, Justine Bacchetta, Mamadou Tidiane Diallo, C. Adamsbaum, Agnès Linglart, Federico Di Rocco

    Publicado 2018
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  18. 18
    Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome

    Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome por Agnès Linglart, S Cabrol, P. Berlier, Chantal Stuckens, K. Wagner, Marc de Kerdanet, Costanzo Limoni, JC Carel, J. L. Chaussain, _ _

    Publicado 2011
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  19. 19
    Genetic Analysis and Evaluation of Resistance to Thyrotropin and Growth Hormone-Releasing Hormone in Pseudohypoparathyroidism Type Ib

    Genetic Analysis and Evaluation of Resistance to Thyrotropin and Growth Hormone-Releasing Hormone in Pseudohypoparathyroidism Type Ib por Giovanna Mantovani, Sara Bondioni, Agnès Linglart, Mohamad Maghnie, Mariangela Cisternino, Sabrina Corbetta, Andrea Lania, Paolo Beck‐Peccoz, Anna Spada

    Publicado 2007
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  20. 20
    The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey

    The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey por Alison Skrinar, Melita Dvorak-Ewell, Ayla Evins, Carolyn M. Macica, Agnès Linglart, Erik A. Imel, Christina Theodore‐Oklota, Javier San Martín

    Publicado 2019
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