Risultati della ricerca - Agnès Linglart

Raffina i risultati
  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 di Agnès Linglart, Stéphanie Maupetit‐Mehouas, Caroline Silve

    Pubblicazione 2013
    Testo Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  2. 2
    Pseudohypoparathyroidism

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

    Pubblicazione 2018
    Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  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) di Anya Rothenbühler, Dirk Schnabel, Wolfgang Högler, Agnès Linglart

    Pubblicazione 2019
    Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  4. 4
    X-linked hypophosphatemia: Management and treatment prospects

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

    Pubblicazione 2019
    Testo Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  5. 5
    Management of X-linked hypophosphatemia in adults

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

    Pubblicazione 2019
    Testo Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  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 di Agnès Linglart, Robert Gensure, Robert C. Olney, Harald Jüppner, Murat Bastepe

    Pubblicazione 2005
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Pierre Bougnères, Létitia Pantalone, Agnès Linglart, Anya Rothenbühler, Catherine Le Stunff

    Pubblicazione 2008
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Agnès Linglart, Anya Rothenbühler, Iva Gueorgieva, Philippe Lucchini, Caroline Silve, Pierre Bougnères

    Pubblicazione 2011
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Bradley S. Miller, Joanne Blair, Reiko Horikawa, Agnès Linglart, Kevin C.J. Yuen

    Pubblicazione 2024
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Emmanuelle Motte‐Signoret, Antoine Labbé, Grégoire Benoist, Agnès Linglart, Vincent Gajdos, Alexandre Lapillonne

    Pubblicazione 2021
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  11. 11
    Tooth dentin defects reflect genetic disorders affecting bone mineralization

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

    Pubblicazione 2012
    Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  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 di Agnès Linglart, Jean‐Claude Carel, Michèle Garabédian, Tran Lé, E. Mallet, Marie-Laure Kottler

    Pubblicazione 2002
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Hélène Che, Christian Roux, Adrien Etcheto, Anya Rothenbühler, Peter Kamenický, Agnès Linglart, Karine Briot

    Pubblicazione 2016
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  14. 14
    Multilocus methylation defects in imprinting disorders

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

    Pubblicazione 2015
    Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  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... di Thomas Dean, Agnès Linglart, Matthew J. Mahon, Murat Bastepe, Harald Jüppner, John T. Potts, Thomas J. Gardella

    Pubblicazione 2005
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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) di Aliette Gizard, Anya Rothenbühler, Zagorka Péjin, G Finidori, C. Glorion, B. de Billy, Agnès Linglart, Philippe Wicart

    Pubblicazione 2017
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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) di Anya Rothenbühler, Nathalie Fadel, Yahya Debza, Justine Bacchetta, Mamadou Tidiane Diallo, C. Adamsbaum, Agnès Linglart, Federico Di Rocco

    Pubblicazione 2018
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Agnès Linglart, S Cabrol, P. Berlier, Chantal Stuckens, K. Wagner, Marc de Kerdanet, Costanzo Limoni, JC Carel, J. L. Chaussain, _ _

    Pubblicazione 2011
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Giovanna Mantovani, Sara Bondioni, Agnès Linglart, Mohamad Maghnie, Mariangela Cisternino, Sabrina Corbetta, Andrea Lania, Paolo Beck‐Peccoz, Anna Spada

    Pubblicazione 2007
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Alison Skrinar, Melita Dvorak-Ewell, Ayla Evins, Carolyn M. Macica, Agnès Linglart, Erik A. Imel, Christina Theodore‐Oklota, Javier San Martín

    Pubblicazione 2019
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:

Strumenti per la ricerca: