Works matching IS 08044643 AND DT 2025 AND VI 192 AND IP 2


Results: 14
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    KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation.

    Published in:
    European Journal of Endocrinology, 2025, v. 192, n. 2, p. 119, doi. 10.1093/ejendo/lvaf016
    By:
    • Bouys, Lucas;
    • Vaduva, Patricia;
    • Jouinot, Anne;
    • Violon, Florian;
    • Vaczlavik, Anna;
    • Barat, Maxime;
    • Charchar, Helaine;
    • Chasseloup, Fanny;
    • Kamilaris, Crystal;
    • Espiard, Stéphanie;
    • Haissaguerre, Magalie;
    • Raverot, Gérald;
    • Kroiss, Matthias;
    • Berthon, Annabel;
    • Perlemoine, Karine;
    • Tauveron, Igor;
    • Guignat, Laurence;
    • Libé, Rossella;
    • Groussin, Lionel;
    • Assié, Guillaume
    Publication type:
    Article
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    Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants.

    Published in:
    European Journal of Endocrinology, 2025, v. 192, n. 2, p. 110, doi. 10.1093/ejendo/lvaf015
    By:
    • Aouchiche, Karine;
    • Charmensat, Camille;
    • Morgane, Pertuit;
    • Teinturier, Cécile;
    • Bretones, Patricia;
    • Perriere, Aude Brac de la;
    • Layet, Valérie;
    • Bouhours-Nouet, Natacha;
    • Vantyghem, Marie-Christine;
    • Haine, Elsa;
    • Nunes-Sanchez, Marie-Laure;
    • Camard, Odile;
    • Baron, Sabine;
    • Castinetti, Frederic;
    • Barlier, Anne;
    • Brue, Thierry;
    • Reynaud, Rachel;
    • Saveanu, Alexandru;
    • Network, Genhypopit
    Publication type:
    Article
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    When selection becomes selection bias.

    Published in:
    European Journal of Endocrinology, 2025, v. 192, n. 2, p. E1, doi. 10.1093/ejendo/lvaf014
    By:
    • Laugesen, Kristina;
    • Dekkers, Olaf M;
    • Groenwold, Rolf H H;
    • Skajaa, Nils
    Publication type:
    Article
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    Optimizing diagnostic strategies for central adrenal insufficiency in pituitary disease.

    Published in:
    European Journal of Endocrinology, 2025, v. 192, n. 2, p. 100, doi. 10.1093/ejendo/lvaf002
    By:
    • Haberbosch, Linus;
    • Meyer, Nina M T;
    • Lechner, Lara;
    • Jensen, Marie;
    • Soll, Dominik;
    • Kozarzewski, Leonard;
    • Hesse, Linus;
    • Blankenstein, Oliver;
    • Hubertus, Vanessa;
    • Vajkoczy, Peter;
    • Strasburger, Christian J;
    • Spranger, Joachim;
    • Maurer, Lukas;
    • Mai, Knut
    Publication type:
    Article
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