Works by Barlier A


Results: 148
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    Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b.

    Published in:
    Human Mutation, 2013, v. 34, n. 8, p. 1172, doi. 10.1002/humu.22352
    By:
    • Maupetit‐Méhouas, Stéphanie;
    • Azzi, Salah;
    • Steunou, Virginie;
    • Sakakini, Nathalie;
    • Silve, Caroline;
    • Reynes, Christelle;
    • Perez de Nanclares, Guiomar;
    • Keren, Boris;
    • Chantot, Sandra;
    • Barlier, Anne;
    • Linglart, Agnès;
    • Netchine, Irène
    Publication type:
    Article
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    Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE).

    Published in:
    Journal of the Endocrine Society, 2020, v. 4, n. 5, p. N.PAG, doi. 10.1210/jendso/bvaa039
    By:
    • Tersant, Marie de;
    • Généré, Lucile;
    • Freyçon, Claire;
    • Villebasse, Sophie;
    • Abbas, Rachid;
    • Barlier, Anne;
    • Bodet, Damien;
    • Corradini, Nadège;
    • Defachelles, Anne-Sophie;
    • Entz-Werle, Natacha;
    • Fouquet, Cyrielle;
    • Galmiche, Louise;
    • Gandemer, Virginie;
    • Lacour, Brigitte;
    • Mansuy, Ludovic;
    • Orbach, Daniel;
    • Pluchart, Claire;
    • Réguerre, Yves;
    • Rigaud, Charlotte;
    • Sarnacki, Sabine
    Publication type:
    Article
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    Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by TPIT Gene Mutations.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 3, p. 1323, doi. 10.1210/jc.2004-1300
    By:
    • Vallette-Kasic, Sophie;
    • Brue, Thierry;
    • Pulichino, Anne-Marie;
    • Gueydan, Magali;
    • Barlier, Anne;
    • David, Michel;
    • Nicolino, Marc;
    • Malpuech, Georges;
    • Déchelotte, Pierre;
    • Deal, Cheri;
    • Guy Van Vliet;
    • De Vroede, Monique;
    • Riepe, Felix G.;
    • Partsch, Carl-Joachim;
    • Sippell, Wolfgang G.;
    • Berberoglu, Merih;
    • Atasa, Begüm;
    • de Zegher, Francis;
    • Beckers, Dominique;
    • Kyllo, Jennifer
    Publication type:
    Article
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    Absence of IDH mutation identifies a novel radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis.

    Published in:
    Acta Neuropathologica, 2010, v. 120, n. 6, p. 719, doi. 10.1007/s00401-010-0777-8
    By:
    • Metellus, Philippe;
    • Coulibaly, Bema;
    • Colin, Carole;
    • de Paula, Andre Maues;
    • Vasiljevic, Alexandre;
    • Taieb, David;
    • Barlier, Anne;
    • Boisselier, Blandine;
    • Mokhtari, Karima;
    • Xiao Wei Wang;
    • Loundou, Anderson;
    • Chapon, Frederique;
    • Pineau, Sandrine;
    • Ouafik, L'Houcine;
    • Chinot, Olivier;
    • Figarella-Branger, Dominique
    Publication type:
    Article
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    Radio-chemotherapy feasibility for biopsy-only unresectable IDH wild-type glioblastomas (BO-GBM).

    Published in:
    Neuro-Oncology Practice, 2023, v. 10, n. 6, p. 536, doi. 10.1093/nop/npad028
    By:
    • Harlay, Vincent;
    • Appay, Romain;
    • Bequet, Céline;
    • Petrirena, Gregorio;
    • Campello, Chantal;
    • Barrié, Maryline;
    • Autran, Didier;
    • Graillon, Thomas;
    • Boissonneau, Sébastien;
    • Dufour, Henry;
    • Figarella-Branger, Dominique;
    • Padovani, Laetitia;
    • Barlier, Anne;
    • Nanni, Isabelle;
    • Tabouret, Emeline;
    • Chinot, Olivier
    Publication type:
    Article
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    CSNK2B Mutation: A Rare Cause of IGHD.

    Published in:
    Clinical Endocrinology, 2025, v. 102, n. 4, p. 421, doi. 10.1111/cen.15174
    By:
    • Aouchiche, Karine;
    • Romanet, Pauline;
    • Barlier, Anne;
    • Brue, Thierry;
    • Pertuit, Morgane;
    • Reynaud, Rachel;
    • Saveanu, Alexandru
    Publication type:
    Article
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    Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

    Published in:
    Clinical Endocrinology, 2021, v. 94, n. 2, p. 277, doi. 10.1111/cen.14355
    By:
    • Jullien, Nicolas;
    • Saveanu, Alexandru;
    • Vergier, Julia;
    • Marquant, Emeline;
    • Quentien, Marie Helene;
    • Castinetti, Frederic;
    • Galon‐Faure, Noémie;
    • Brauner, Raja;
    • Marrakchi Turki, Zinet;
    • Tauber, Maité;
    • El Kholy, Mohamed;
    • Linglart, Agnès;
    • Rodien, Patrice;
    • Fedala, Nora Soumeya;
    • Bergada, Ignacio;
    • Cortet‐Rudelli, Christine;
    • Polak, Michel;
    • Nicolino, Marc;
    • Stuckens, Chantal;
    • Barlier, Anne
    Publication type:
    Article
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    Comparison of [.

    Published in:
    Clinical Endocrinology, 2011, v. 74, n. 1, p. 21, doi. 10.1111/j.1365-2265.2010.03893.x
    By:
    • Charrier, N.;
    • Deveze, A.;
    • Fakhry, N.;
    • Sebag, F.;
    • Morange, I.;
    • Gaborit, B.;
    • Barlier, A.;
    • Carmona, E.;
    • De Micco, C.;
    • Garcia, S.;
    • Mancini, J.;
    • Palazzo, F. F.;
    • Lavieille, J. P.;
    • Zanaret, M.;
    • Henry, J. F.;
    • Mundler, O.;
    • Taïeb, D.
    Publication type:
    Article
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    Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'étude des Tumeurs Endocrines (GTE) cohort study.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 10, p. 1940, doi. 10.1093/hmg/ddt039
    By:
    • Thevenon, Julien;
    • Bourredjem, Abderrahmane;
    • Faivre, Laurence;
    • Cardot-Bauters, Catherine;
    • Calender, Alain;
    • Murat, Arnaud;
    • Giraud, Sophie;
    • Niccoli, Patricia;
    • Odou, Marie-Françoise;
    • Borson-Chazot, Françoise;
    • Barlier, Anne;
    • Lombard-Bohas, Catherine;
    • Clauser, Eric;
    • Tabarin, Antoine;
    • Parfait, Béatrice;
    • Chabre, Olivier;
    • Castermans, Emilie;
    • Beckers, Albert;
    • Ruszniewski, Philippe;
    • Le Bras, Morgane
    Publication type:
    Article
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    Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.

    Published in:
    European Journal of Endocrinology, 2025, v. 192, n. 4, p. 385, doi. 10.1093/ejendo/lvaf044
    By:
    • Loughrey, Paul Benjamin;
    • Mothojakan, Nadira B;
    • Iacovazzo, Donato;
    • Arni, Ankit;
    • Aflorei, Elena D;
    • Arnaldi, Giorgio;
    • Barlier, Anne;
    • Beckers, Albert;
    • Bizzi, Mariana F;
    • Chanson, Philippe;
    • Dal, Jakob;
    • Daly, Adrian F;
    • Dang, Mary N;
    • David, Alessia;
    • Andrade, Matheus de Oliveira;
    • Else, Tobias;
    • Elston, Marianne S;
    • Evans, Amy;
    • Ferrau, Francesco;
    • Fica, Simona
    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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    IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.

    Published in:
    European Journal of Endocrinology, 2022, v. 187, n. 6, p. 787, doi. 10.1530/EJE-22-0520
    By:
    • Fourneaux, Rachel;
    • Reynaud, Rachel;
    • Mougel, Gregory;
    • Castets, Sarah;
    • Bretones, Patricia;
    • Dauriat, Benjamin;
    • Edouard, Thomas;
    • Raverot, Gerald;
    • Barlier, Anne;
    • Brue, Thierry;
    • Castinetti, Frederic;
    • Saveanu, Alexandru
    Publication type:
    Article
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    Germinal defects of SDHx genes in patients with isolated pituitary adenoma.

    Published in:
    European Journal of Endocrinology, 2020, v. 183, n. 4, p. 369, doi. 10.1530/EJE-20-0054
    By:
    • Mougel, Grégory;
    • Lagarde, Arnaud;
    • Albarel, Frédérique;
    • Essamet, Wassim;
    • Luigi, Perrine;
    • Mouly, Céline;
    • Vialon, Magaly;
    • Cuny, Thomas;
    • Castinetti, Frédéric;
    • Saveanu, Alexandru;
    • Brue, Thierry;
    • Barlier, Anne;
    • Romanet, Pauline
    Publication type:
    Article