Výsledky vyhledávání - Linglart, Agnès

A randomized pilot trial of growth hormone with anastrozole versus growth hormone alone, starting at the very end of puberty in adolescents with idiopathic short stature Autor Rothenbuhler, Anya, Linglart, Agnès, Bougnères, Pierre

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Erratum to: A randomized pilot trial of growth hormone with anastrozole versus growth hormone alone, starting at the very end of puberty in adolescents with idiopathic short statur... Autor Rothenbuhler, Anya, Linglart, Agnès, Bougnères, Pierre

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

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Genetic and Epigenetic Modulation of Growth Hormone Sensitivity Studied With the IGF-1 Generation Test Autor Ouni, Meriem, Castell, Anne-Laure, Linglart, Agnès, Bougnères, Pierre

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SAT-039 GNAS-miRNAs Are Likely Involved in the Phenotype of Patients with Pseudohypoparathyroidism 1B/iPPSD3 Autor Hanna, Patrick, Netchine, Irène, Le Stunff, Catherine, Linglart, Agnès

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A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2 Autor Hanna, Patrick, Francou, Bruno, Delemer, Brigitte, Jüppner, Harald, Linglart, Agnès

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

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

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Mitotane (op’DDD) restores growth and puberty in nine children with Cushing’s disease Autor Motte, Emmanuelle, Rothenbuhler, Anya, Gaillard, Stephan, Lahlou, Najiba, Teinturier, Cécile, Coutant, Régis, Linglart, Agnès

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Clinical utility gene card for: Pseudohypoparathyroidism Autor Mantovani, Giovanna, Linglart, Agnes, Garin, Intza, Silve, Caroline, Elli, Francesca M, de Nanclares, Guiomar Perez

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Mineral and Bone Consequences of High Dose Denosumab Therapy to Treat an Aneurysmal Bone Cyst, a Child Case Report Autor Del Sindaco, Giulia, Berlanga, Pablo, Brugières, Laurence, Thebault, Eric, Mantovani, Giovanna, Wicart, Philippe, Linglart, Agnès

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Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration Autor Nguyen, Caroline, Celestin, Elisabeth, Chambolle, Delphine, Linglart, Agnès, Biosse Duplan, Martin, Chaussain, Catherine, Friedlander, Lisa

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Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright Syndrome and fibrous dysplasia of bone Autor Mariot, Virginie, Wu, Joy Y., Aydin, Cumhur, Mantovani, Giovanna, Mahon, Matthew J., Linglart, Agnès, Bastepe, Murat

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

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Methylation and Transcripts Expression at the Imprinted GNAS Locus in Human Embryonic and Induced Pluripotent Stem Cells and Their Derivatives Autor Grybek, Virginie, Aubry, Laetitia, Maupetit-Méhouas, Stéphanie, Le Stunff, Catherine, Denis, Cécile, Girard, Mathilde, Linglart, Agnès, Silve, Caroline

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

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De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases Autor Turan, Serap, Ignatius, Jaakko, Moilanen, Jukka S., Kuismin, Outi, Stewart, Helen, Mann, Nicholas P., Linglart, Agnès, Bastepe, Murat, Jüppner, Harald

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Loss of Methylation at GNAS Exon A/B Is Associated With Increased Intrauterine Growth Autor Bréhin, Anne-Claire, Colson, Cindy, Maupetit-Méhouas, Stéphanie, Grybek, Virginie, Richard, Nicolas, Linglart, Agnès, Kottler, Marie-Laure, Jüppner, Harald

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SUN-336 Obesity and Impaired Glucose Metabolism in Adult Patients with X-Linked Hypophosphatemia Autor Lecoq, Anne-Lise, Trabado, Séverine, Schilbach, Katharina, Rothenbuhler, Anya, Barosi, Anna, Debza, Yahya, Linglart, Agnes, Bidlingmaier, Martin, Kamenicky, Peter

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SUN-529 Burden of Illness in Adults with Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry Autor Kishnani, Priya, Petryk, Anna, Hoegler, Wolfgang, Linglart, Agnès, Martos-Moreno, Gabriel, Ozono, Keiichi, Fang, Shona, Rockman-Greenberg, Cheryl, Seefried, Lothar

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