Works matching AU Stoupa, Athanasia

Results: 22
    1

    High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.

    Published in:
    Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.545339
    By:
    • Stoupa, Athanasia;
    • Al Hage Chehade, Ghada;
    • Chaabane, Rim;
    • Kariyawasam, Dulanjalee;
    • Szinnai, Gabor;
    • Hanein, Sylvain;
    • Bole-Feysot, Christine;
    • Fourrage, Cécile;
    • Nitschke, Patrick;
    • Thalassinos, Caroline;
    • Pinto, Graziella;
    • Mnif, Mouna;
    • Baron, Sabine;
    • De Kerdanet, Marc;
    • Reynaud, Rachel;
    • Barat, Pascal;
    • Hachicha, Mongia;
    • Belguith, Neila;
    • Polak, Michel;
    • Carré, Aurore
    Publication type:
    Article
    2
    3
    4

    Mutations in BOREALIN cause thyroid dysgenesis.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 3, p. 599, doi. 10.1093/hmg/ddw419
    By:
    • Carré, Aurore;
    • Stoupa, Athanasia;
    • Kariyawasam, Dulanjalee;
    • Gueriouz, Manelle;
    • Ramond, Cyrille;
    • Monus, Taylor;
    • Léger, Juliane;
    • Gaujoux, Sébastien;
    • Sebag, Frédéric;
    • Glaser, Nicolas;
    • Zenaty, Delphine;
    • Nitschke, Patrick;
    • Bole-Feysot, Christine;
    • Hubert, Laurence;
    • Lyonnet, Stanislas;
    • Scharfmann, Raphael;
    • Munnich, Arnold;
    • Besmond, Claude;
    • Taylor, William;
    • Polak, Michel
    Publication type:
    Article
    5
    6

    Long-term weight gain in children with craniopharyngioma.

    Published in:
    European Journal of Endocrinology, 2024, v. 190, n. 5, p. 363, doi. 10.1093/ejendo/lvae044
    By:
    • Rovani, Sibylle;
    • Butler, Victoria;
    • Samara-Boustani, Dinane;
    • Pinto, Graziella;
    • Gonzalez-Briceno, Laura;
    • Quoc, Adrien Nguyen;
    • Vermillac, Gaëlle;
    • Stoupa, Athanasia;
    • Besançon, Alix;
    • Beltrand, Jacques;
    • Thalassinos, Caroline;
    • Flechtner, Isabelle;
    • Dassa, Yamina;
    • Viaud, Magali;
    • Arrom-Branas, Maria Beatriz;
    • Boddaert, Nathalie;
    • Puget, Stéphanie;
    • Blauwblomme, Thomas;
    • Alapetite, Claire;
    • Bolle, Stéphanie
    Publication type:
    Article
    7
    8

    First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.

    Published in:
    European Journal of Endocrinology, 2020, v. 183, n. 5, p. K1, doi. 10.1530/EJE-20-0255
    By:
    • Stoupa, Athanasia;
    • Chehade, Ghada Al Hage;
    • Kariyawasam, Dulanjalee;
    • Tohier, Celine;
    • Bole-Feysot, Christine;
    • Nitschke, Patrick;
    • Thibault, Helene;
    • Jullie, Marie-Laure;
    • Polak, Michel;
    • Carré, Aurore
    Publication type:
    Article
    9

    Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.

    Published in:
    Thyroid, 2021, v. 31, n. 3, p. 387, doi. 10.1089/thy.2020.0333
    By:
    • van Trotsenburg, Paul;
    • Stoupa, Athanasia;
    • Léger, Juliane;
    • Rohrer, Tilman;
    • Peters, Catherine;
    • Fugazzola, Laura;
    • Cassio, Alessandra;
    • Heinrichs, Claudine;
    • Beauloye, Veronique;
    • Pohlenz, Joachim;
    • Rodien, Patrice;
    • Coutant, Regis;
    • Szinnai, Gabor;
    • Murray, Philip;
    • Bartés, Beate;
    • Luton, Dominique;
    • Salerno, Mariacarolina;
    • de Sanctis, Luisa;
    • Vigone, Mariacristina;
    • Krude, Heiko
    Publication type:
    Article
    10

    Génétique de l'hypothyroïdie congénitale.

    Published in:
    Médecine Sciences, 2022, v. 38, n. 3, p. 263, doi. 10.1051/medsci/2022028
    By:
    • Stoupa, Athanasia;
    • Kariyawasam, Dulanjalee;
    • Polak, Michel;
    • Carré, Aurore
    Publication type:
    Article
    11

    Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 415, doi. 10.1002/jimd.12314
    By:
    • Bérat, Claire‐Marine;
    • Montealegre, Sebastian;
    • Wiedemann, Arnaud;
    • Nuzum, Malou Le Corronc;
    • Blondel, Amélie;
    • Debruge, Hugo;
    • Cano, Aline;
    • Chabrol, Brigitte;
    • Hoebeke, Célia;
    • Polak, Michel;
    • Stoupa, Athanasia;
    • Feillet, François;
    • Torre, Stéphanie;
    • Boddaert, Nathalie;
    • Bruel, Henri;
    • Barth, Magalie;
    • Damaj, Lena;
    • Abi‐Wardé, Marie‐Thérèse;
    • Afenjar, Alexandra;
    • Benoist, Jean‐François
    Publication type:
    Article
    12

    GH and Childhood-onset Craniopharyngioma: When to Initiate GH Replacement Therapy?

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 8, p. 1929, doi. 10.1210/clinem/dgad079
    By:
    • Quoc, Adrien Nguyen;
    • Beccaria, Kévin;
    • Briceño, Laura González;
    • Pinto, Graziella;
    • Samara-Boustani, Dinane;
    • Stoupa, Athanasia;
    • Beltrand, Jacques;
    • Besançon, Alix;
    • Thalassinos, Caroline;
    • Puget, Stéphanie;
    • Blauwblomme, Thomas;
    • Alapetite, Claire;
    • Bolle, Stéphanie;
    • Doz, François;
    • Grill, Jacques;
    • Dufour, Christelle;
    • Bourdeaut, Franck;
    • Abbou, Samuel;
    • Guerrini-Rousseau, Léa;
    • Leruste, Amaury
    Publication type:
    Article
    13

    Approach to the Patient With Congenital Hypothyroidism.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3418, doi. 10.1210/clinem/dgac534
    By:
    • Stoupa, Athanasia;
    • Kariyawasam, Dulanjalee;
    • Nguyen Quoc, Adrien;
    • Polak, Michel;
    • Carré, Aurore
    Publication type:
    Article
    14

    TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.

    Published in:
    EMBO Molecular Medicine, 2018, v. 10, n. 12, p. N.PAG, doi. 10.15252/emmm.201809569
    By:
    • Stoupa, Athanasia;
    • Adam, Frédéric;
    • Kariyawasam, Dulanjalee;
    • Strassel, Catherine;
    • Gawade, Sanjay;
    • Szinnai, Gabor;
    • Kauskot, Alexandre;
    • Lasne, Dominique;
    • Janke, Carsten;
    • Natarajan, Kathiresan;
    • Schmitt, Alain;
    • Bole‐Feysot, Christine;
    • Nitschke, Patrick;
    • Léger, Juliane;
    • Jabot‐Hanin, Fabienne;
    • Tores, Frédéric;
    • Michel, Anita;
    • Munnich, Arnold;
    • Besmond, Claude;
    • Scharfmann, Raphaël
    Publication type:
    Article
    15
    16
    17

    New genetics in congenital hypothyroidism.

    Published in:
    Endocrine (1355008X), 2021, v. 71, n. 3, p. 696, doi. 10.1007/s12020-021-02646-9
    By:
    • Stoupa, Athanasia;
    • Kariyawasam, Dulanjalee;
    • Muzza, Marina;
    • de Filippis, Tiziana;
    • Fugazzola, Laura;
    • Polak, Michel;
    • Persani, Luca;
    • Carré, Aurore
    Publication type:
    Article
    18

    Efficacy and Safety of Continuous Subcutaneous Infusion of Recombinant Human Gonadotropins for Congenital Micropenis during Early Infancy.

    Published in:
    Hormone Research in Paediatrics, 2017, v. 87, n. 2, p. 1, doi. 10.1159/000454861
    By:
    • Stoupa, Athanasia;
    • Samara-Boustani, Dinane;
    • Flechtner, Isabelle;
    • Pinto, Graziella;
    • Jourdon, Isabelle;
    • González-Briceño, Laura;
    • Bidet, Maud;
    • Laborde, Kathleen;
    • Chevenne, Didier;
    • Millischer, Anne-Elodie;
    • Lottmann, Henri;
    • Blanc, Thomas;
    • Aigrain, Yves;
    • Polak, Michel;
    • Beltrand, Jacques
    Publication type:
    Article
    19

    Inadequate Cortisol Response to the Tetracosactide (Synacthen®) Test in Non-Classic Congenital Adrenal Hyperplasia: An Exception to the Rule?

    Published in:
    Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 262, doi. 10.1159/000369901
    By:
    • Stoupa, athanasia;
    • González-Briceño, Laura;
    • Pinto, Graziella;
    • Samara-Boustani, Dinane;
    • Thalassinos, Caroline;
    • Flechtner, Isabelle;
    • Beltrand, Jacques;
    • Bidet, Maud;
    • Simon, albane;
    • Piketty, Marie;
    • Laborde, Kathleen;
    • Morel, Yves;
    • Bellanné-Chantelot, Christine;
    • Touraine, Philippe;
    • Polak, Michel
    Publication type:
    Article
    20

    Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01629-x
    By:
    • Lévy, Romain;
    • Escudier, Agathe;
    • Bastard, Paul;
    • Briand, Coralie;
    • Polivka, Laura;
    • Stoupa, Athanasia;
    • Talbotec, Cécile;
    • Rothenbuhler, Anya;
    • Charbit, Marina;
    • Debray, Dominique;
    • Bodemer, Christine;
    • Casanova, Jean-Laurent;
    • Linglart, Agnès;
    • Neven, Bénédicte
    Publication type:
    Article
    21
    22

    Identifying patient-related predictors of permanent growth hormone deficiency.

    Published in:
    Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1270845
    By:
    • Mericq, Veronica;
    • Iñiguez, German;
    • Pinto, Graziella;
    • Gonzalez-Briceño, Laura G.;
    • Samara-Boustani, Dinane;
    • Thalassinos, Caroline;
    • Flechtner, Isabelle;
    • Stoupa, Athanasia;
    • Beltrand, Jacques;
    • Besançon, Alix;
    • Brabant, Séverine;
    • Ghazal, Khaldoun;
    • Leban, Monique;
    • Touraine, Philippe;
    • Cavada, Gabriel;
    • Polak, Michel;
    • Kariyawasam, Dulanjalee
    Publication type:
    Article