Works by Linglart, Agnes


Results: 124
    1

    The ALPL gene variant project: results of the first 100 reclassified variants Open Access.

    Published in:
    JBMR Plus, 2025, v. 9, n. 6, p. 1, doi. 10.1093/jbmrpl/ziaf044
    By:
    • Farman, Mariam R;
    • Malli, Theodora;
    • Rehder, Catherine;
    • Webersinke, Gerald;
    • Rockman-Greenberg, Cheryl;
    • Dahir, Kathryn;
    • Martos-Moreno, Gabriel Á;
    • Linglart, Agnès;
    • Ozono, Keiichi;
    • Seefried, Lothar;
    • Angel, Guillermo del;
    • Barbazza, Francesca;
    • Shojaei, Sara;
    • Ebner-Jahn, Jessica;
    • Högler, Florian;
    • Nading, Erica B;
    • Huggins, Erin;
    • Rush, Eric T;
    • El-Gazzar, Ahmed;
    • Tauer, Josephine T
    Publication type:
    Article
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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
    5

    Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

    Published in:
    2024
    By:
    • Khan, Aliya A.;
    • Brandi, Maria Luisa;
    • Rush, Eric T.;
    • Ali, Dalal S.;
    • Al-Alwani, Hatim;
    • Almonaei, Khulod;
    • Alsarraf, Farah;
    • Bacrot, Severine;
    • Dahir, Kathryn M.;
    • Dandurand, Karel;
    • Deal, Chad;
    • Ferrari, Serge Livio;
    • Giusti, Francesca;
    • Guyatt, Gordon;
    • Hatcher, Erin;
    • Ing, Steven W.;
    • Javaid, Muhammad Kassim;
    • Khan, Sarah;
    • Kocijan, Roland;
    • Linglart, Agnes
    Publication type:
    Correction Notice
    6

    Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

    Published in:
    Osteoporosis International, 2024, v. 35, n. 3, p. 431, doi. 10.1007/s00198-023-06844-1
    By:
    • Khan, Aliya A.;
    • Brandi, Maria Luisa;
    • Rush, Eric T.;
    • Ali, Dalal S.;
    • Al-Alwani, Hatim;
    • Almonaei, Khulod;
    • Alsarraf, Farah;
    • Bacrot, Severine;
    • Dahir, Kathryn M.;
    • Dandurand, Karel;
    • Deal, Chad;
    • Ferrari, Serge Livio;
    • Giusti, Francesca;
    • Guyatt, Gordon;
    • Hatcher, Erin;
    • Ing, Steven W.;
    • Javaid, Muhammad Kassim;
    • Khan, Sarah;
    • Kocijan, Roland;
    • Linglart, Agnes
    Publication type:
    Article
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    MEPE-Derived ASARM Peptide Inhibits Odontogenic Differentiation of Dental Pulp Stem Cells and Impairs Mineralization in Tooth Models of X-Linked Hypophosphatemia.

    Published in:
    PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056749
    By:
    • Salmon, Benjamin;
    • Bardet, Claire;
    • Khaddam, Mayssam;
    • Naji, Jiar;
    • Coyac, Benjamin R.;
    • Baroukh, Brigitte;
    • Letourneur, Franck;
    • Lesieur, Julie;
    • Decup, Franck;
    • Le Denmat, Dominique;
    • Nicoletti, Antonino;
    • Poliard, Anne;
    • Rowe, Peter S.;
    • Huet, Eric;
    • Vital, Sibylle Opsahl;
    • Linglart, Agnès;
    • McKee, Marc D.;
    • Chaussain, Catherine
    Publication type:
    Article
    20

    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
    21

    Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

    Published in:
    Clinical Endocrinology, 2020, v. 93, n. 3, p. 248, doi. 10.1111/cen.14211
    By:
    • Mouly, Céline;
    • Vargas‐Poussou, Rosa;
    • Lienhardt, Anne;
    • Silve, Caroline;
    • Hureaux, Marguerite;
    • Magdelaine, Corinne;
    • Buffet, Alexandre;
    • Grunenwald, Solange;
    • Kuhn, Jean-Marc;
    • Brue, Thierry;
    • Reznik, Yves;
    • Tabarin, Antoine;
    • Martin‐Coignard, Dominique;
    • Haymann, Jean‐Philippe;
    • Tack, Ivan;
    • Bennet, Antoine;
    • Caron, Philippe;
    • Linglart, Agnès;
    • Vezzosi, Delphine
    Publication type:
    Article
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    Metabolically healthy obesity in adults with X-linked hypophosphatemia.

    Published in:
    European Journal of Endocrinology, 2024, v. 191, n. 2, p. 156, doi. 10.1093/ejendo/lvae089
    By:
    • Lecoq, Anne-Lise;
    • Schilbach, Katharina;
    • Rocher, Laurence;
    • Trabado, Séverine;
    • Briot, Karine;
    • Herrou, Julia;
    • Forbes, Aurélie;
    • Garnier, Anthony;
    • Piketty, Marie;
    • Bidlingmaier, Martin;
    • Rothenbuhler, Anya;
    • Linglart, Agnès;
    • Carette, Claire;
    • Chaumet-Riffaud, Philippe;
    • Kamenický, Peter
    Publication type:
    Article
    38

    Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.

    Published in:
    European Journal of Endocrinology, 2023, v. 189, n. 4, p. 469, doi. 10.1093/ejendo/lvad144
    By:
    • Boros, Emese;
    • Ertl, Diana-Alexandra;
    • Berkenou, Jugurtha;
    • Audrain, Christelle;
    • Lecoq, Anne Lise;
    • Kamenicky, Peter;
    • Briot, Karine;
    • Amouroux, Cyril;
    • Zhukouskaya, Volha;
    • Gueorguieva, Iva;
    • Mignot, Brigitte;
    • Girerd, Barbara;
    • Bordes, Valerie Porquet;
    • Salles, Jean Pierre;
    • Edouard, Thomas;
    • Coutant, Régis;
    • Bacchetta, Justine;
    • Linglart, Agnès;
    • Rothenbuhler, Anya
    Publication type:
    Article
    39

    Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.

    Published in:
    European Journal of Endocrinology, 2023, v. 189, n. 1, p. 123, doi. 10.1093/ejendo/lvad085
    By:
    • Ertl, Diana-Alexandra;
    • de Nanclares, Guiomar Perez;
    • Jüppner, Harald;
    • Hanna, Patrick;
    • Pagnano, Angela;
    • Pereda, Arrate;
    • Rothenbuhler, Anya;
    • Sindaco, Giulia Del;
    • Ruiz-Cuevas, Pilar;
    • Audrain, Christelle;
    • Escribano, Arancha;
    • Berkenou, Jugurtha;
    • Gleiss, Andreas;
    • Mantovani, Giovanna;
    • Linglart, Agnès
    Publication type:
    Article
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    Magnetic resonance imaging is a valuable tool to evaluate the therapeutic efficacy of burosumab in children with X-linked hypophosphatemia.

    Published in:
    European Journal of Endocrinology, 2021, v. 185, n. 4, p. 475, doi. 10.1530/EJE-21-0429
    By:
    • Zhukouskaya, Volha V.;
    • Mannes, Inès;
    • Chaussain, Catherine;
    • Kamenický, Peter;
    • Audrain, Christelle;
    • Lambert, Anne-Sophie;
    • Nevoux, Jérôme;
    • Wicart, Philippe;
    • Briot, Karine;
    • Di Rocco, Federico;
    • Trabado, Séverine;
    • Prié, Dominique;
    • Di Somma, Carolina;
    • Colao, Annamaria;
    • Adamsbaum, Catherine;
    • Rothenbuhler, Anya;
    • Linglart, Agnès
    Publication type:
    Article
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    Dental pulp stem cells as a promising model to study imprinting diseases.

    Published in:
    International Journal of Oral Science, 2022, v. 14, n. 1, p. 1, doi. 10.1038/s41368-022-00169-1
    By:
    • Giabicani, Eloïse;
    • Pham, Aurélie;
    • Sélénou, Céline;
    • Sobrier, Marie-Laure;
    • Andrique, Caroline;
    • Lesieur, Julie;
    • Linglart, Agnès;
    • Poliard, Anne;
    • Chaussain, Catherine;
    • Netchine, Irène
    Publication type:
    Article
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    Multilocus methylation defects in imprinting disorders.

    Published in:
    Biomolecular Concepts, 2015, v. 6, n. 1, p. 47, doi. 10.1515/bmc-2014-0037
    By:
    • Mackay, Deborah J. G.;
    • Eggermann, Thomas;
    • Buiting, Karin;
    • Garin, Intza;
    • Netchine, Irène;
    • Linglart, Agnès;
    • Perez de Nanclares, Guiomar
    Publication type:
    Article
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