Hasil Pencarian - Anne Barlier

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  1. 1
    Editorial: New insights into multiple endocrine neoplasia type 1

    Editorial: New insights into multiple endocrine neoplasia type 1 oleh Anne Barlier, Pauline Romanet, Natalia S. Pellegata, Natalia S. Pellegata, Natalia S. Pellegata

    Diterbitkan 2023-08-01
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  2. 2
    Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signaling

    Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signaling oleh Elise Marechal, Anne Poliard, Anne Poliard, Kilian Henry, Mathias Moreno, Mathilde Legrix, Nicolas Macagno, Grégoire Mondielli, Teddy Fauquier, Anne Barlier, Anne Barlier, Heather C. Etchevers

    Diterbitkan 2022-10-01
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  3. 3
    Challenges in molecular diagnosis of multiple endocrine neoplasia

    Challenges in molecular diagnosis of multiple endocrine neoplasia oleh Pauline Romanet, Théo Charnay, Nicolas Sahakian, Thomas Cuny, Frédéric Castinetti, Anne Barlier

    Diterbitkan 2024-09-01
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  4. 4
    A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin

    A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin oleh Théo Charnay, Théo Charnay, Gregory Mougel, Gregory Mougel, Cyril Amouroux, Iva Gueorguieva, Florence Joubert, Morgane Pertuit, Rachel Reynaud, Rachel Reynaud, Anne Barlier, Anne Barlier, Thierry Brue, Thierry Brue, Alexandru Saveanu, Alexandru Saveanu

    Diterbitkan 2023-02-01
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  5. 5
    Dose-dependent dual role of PIT-1 (POU1F1) in somatolactotroph cell proliferation and apoptosis.

    Dose-dependent dual role of PIT-1 (POU1F1) in somatolactotroph cell proliferation and apoptosis. oleh Nicolas Jullien, Catherine Roche, Thierry Brue, Dominique Figarella-Branger, Thomas Graillon, Anne Barlier, Jean-Paul Herman

    Diterbitkan 2015-01-01
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  6. 6
    A new specific succinate-glutamate metabolomic hallmark in SDHx-related paragangliomas.

    A new specific succinate-glutamate metabolomic hallmark in SDHx-related paragangliomas. oleh Alessio Imperiale, François-Marie Moussallieh, Frédéric Sebag, Laurent Brunaud, Anne Barlier, Karim Elbayed, Philippe Bachellier, Bernard Goichot, Karel Pacak, Izzie-Jacques Namer, David Taïeb

    Diterbitkan 2013-01-01
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  7. 7
    Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.

    Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue. oleh Claire Rochette, Nicolas Jullien, Alexandru Saveanu, Emmanuelle Caldagues, Ignacio Bergada, Debora Braslavsky, Marija Pfeifer, Rachel Reynaud, Jean-Paul Herman, Anne Barlier, Thierry Brue, Alain Enjalbert, Frederic Castinetti

    Diterbitkan 2015-01-01
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  8. 8
    Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms

    Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms oleh Arnaud Lagarde, Grégory Mougel, Lucie Coppin, Magalie Haissaguerre, Lauriane Le Collen, Amira Mohamed, Marc Klein, Marie-Françoise Odou, Antoine Tabarin, Hedia Brixi, Thomas Cuny, Brigitte Delemer, Anne Barlier, Pauline Romanet

    Diterbitkan 2022-10-01
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  9. 9
    Somatotroph Tumors and the Epigenetic Status of the <i>GNAS</i> Locus

    Somatotroph Tumors and the Epigenetic Status of the <i>GNAS</i> Locus oleh Pauline Romanet, Justine Galluso, Peter Kamenicky, Mirella Hage, Marily Theodoropoulou, Catherine Roche, Thomas Graillon, Heather C. Etchevers, Daniel De Murat, Grégory Mougel, Dominique Figarella-Branger, Henry Dufour, Thomas Cuny, Guillaume Assié, Anne Barlier

    Diterbitkan 2021-07-01
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  10. 10
    Negative Survival Impact of High Radiation Doses to Neural Stem Cells Niches in an IDH-Wild-Type Glioblastoma Population

    Negative Survival Impact of High Radiation Doses to Neural Stem Cells Niches in an IDH-Wild-Type Glioblastoma Population oleh Xavier Muracciole, Wassim El-amine, Emmeline Tabouret, Emmeline Tabouret, Mohamed Boucekine, Anne Barlier, Gregorio Petrirena, Tovo Harivony, Laetitia Solignac, Olivier L. Chinot, Nicolas Macagno, Nicolas Macagno, Dominique Figarella-Branger, Dominique Figarella-Branger, Laetitia Padovani, Laetitia Padovani

    Diterbitkan 2018-10-01
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  11. 11
    Metabolome Profiling by HRMAS NMR Spectroscopy of Pheochromocytomas and Paragangliomas Detects SDH Deficiency: Clinical and Pathophysiological Implications

    Metabolome Profiling by HRMAS NMR Spectroscopy of Pheochromocytomas and Paragangliomas Detects SDH Deficiency: Clinical and Pathophysiological Implications oleh Alessio Imperiale, François-Marie Moussallieh, Philippe Roche, Stéphanie Battini, A. Ercument Cicek, Frédéric Sebag, Laurent Brunaud, Anne Barlier, Karim Elbayed, Anderson Loundou, Philippe Bachellier, Bernard Goichot, Constantine A. Stratakis, Karel Pacak, Izzie-Jacques Namer, David Taïeb

    Diterbitkan 2015-01-01
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  12. 12
    The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene

    The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene oleh Laurent Vroonen, Albert Beckers, Severine Camby, Thomas Cuny, Pablo Beckers, Marie-Lise Jaffrain-Rea, Marie-Lise Jaffrain-Rea, Muriel Cogne, Luciana Naves, Amandine Ferriere, Pauline Romanet, Atanaska Elenkova, Auli Karhu, Auli Karhu, Thierry Brue, Thierry Brue, Anne Barlier, Patrick Pétrossians, Adrian F. Daly

    Diterbitkan 2023-08-01
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  13. 13
    Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study

    Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study oleh Louise Vølund Larsen, Delphine Mirebeau-Prunier, Tsuneo Imai, Cristina Alvarez-Escola, Kornelia Hasse-Lazar, Simona Censi, Luciana A Castroneves, Akihiro Sakurai, Minoru Kihara, Kiyomi Horiuchi, Véronique Dorine Barbu, Francoise Borson-Chazot, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Stephane Pinson, Nelson Wohllk, Charis Eng, Berna Imge Aydogan, Dhananjaya Saranath, Sarka Dvorakova, Frederic Castinetti, Attila Patocs, Damijan Bergant, Thera P Links, Mariola Peczkowska, Ana O Hoff, Caterina Mian, Trisha Dwight, Barbara Jarzab, Hartmut P H Neumann, Mercedes Robledo, Shinya Uchino, Anne Barlier, Christian Godballe, Jes Sloth Mathiesen

    Diterbitkan 2020-06-01
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