Search Results - "Barlier, Anne A."

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    IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency 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

    Published in European journal of endocrinology (01-12-2022)
    “…Design Thyroid-stimulating hormone deficiency (TSHD) is a rare disease. It may be isolated, secondary to abnormalities of genes involved in TSH biosynthesis,…”
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    Journal Article
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    Role of the tumor microenvironment in digestive neuroendocrine tumors by Cuny, Thomas, de Herder, Wouter, Barlier, Anne, Hofland, Leo J

    Published in Endocrine-related cancer (01-11-2018)
    “…Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) represent a group of heterogeneous tumors whose incidence increased over the past few years. Around…”
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    Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism by Lagarde, Arnaud, Collen, Lauriane Le, Boulagnon, Camille, Brixi, Hedia, Durlach, Anne, Mougel, Gregory, Cuny, Thomas, Delemer, Brigitte, Barlier, Anne, Romanet, Pauline

    “…Abstract Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by inactivating mutations in the MEN1 gene. In the…”
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    Germinal defects of SDHx genes in patients with isolated pituitary adenoma 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

    Published in European journal of endocrinology (01-10-2020)
    “…Background: The ‘3PAs’ syndrome, associating pituitary adenoma (PA) and pheochromocytoma/paraganglioma (PPGL), is sometimes associated with mutations in…”
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    Pheochromocytoma surgery without systematic preoperative pharmacological preparation: insights from a referral tertiary center experience by Buisset, Cyrille, Guerin, Carole, Cungi, Pierre-Julien, Gardette, Mickael, Paladino, Nunzia-Cinzia, Taïeb, David, Cuny, Thomas, Castinetti, Frederic, Sebag, Frederic

    Published in Surgical endoscopy (01-02-2021)
    “…Background Despite significant advances in imaging and genetics, as well as surgical and anesthetic innovations, morbidity in pheochromocytoma surgery remains…”
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    Octreotide therapy in meningiomas: in vitro study, clinical correlation, and literature review by Graillon, Thomas, Romano, David, Defilles, Céline, Saveanu, Alexandru, Mohamed, Amira, Figarella-Branger, Dominique, Roche, Pierre-Hugues, Fuentes, Stéphane, Chinot, Olivier, Dufour, Henry, Barlier, Anne

    Published in Journal of neurosurgery (01-09-2017)
    “…OBJECTIVE Meningiomas express somatostatin receptor subtype 2 (SST2), which is targeted by the somatostatin analog octreotide. However, to date, using…”
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    Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms by Guerin, Carole, Romanet, Pauline, Taieb, David, Brue, Thierry, Lacroix, André, Sebag, Frederic, Barlier, Anne, Castinetti, Frederic

    Published in Endocrine-related cancer (01-02-2018)
    “…Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent…”
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    Kinome rewiring during acquired drug resistance in neuroendocrine neoplasms by Gérard, Corinne, Lagarde, Marie, Poizat, Flora, Oziel-Taieb, Sandrine, Garcia, Vincent, Roche, Catherine, Niccoli, Patricia, Barlier, Anne, Romano, David

    Published in Endocrine-related cancer (01-01-2021)
    “…Although there is evidence of a significant rise of neuroendocrine neoplasms (NENs) incidence, current treatments are largely insufficient due to somewhat poor…”
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    First Report of Bilateral Pheochromocytoma in the Clinical Spectrum of HIF2A-Related Polycythemia-Paraganglioma Syndrome by Taïeb, David, Yang, Chunzhang, Delenne, Blandine, Zhuang, Zhengping, Barlier, Anne, Sebag, Fréderic, Pacak, Karel

    “…Context: Molecular genetic research has so far resulted in the identification of 10 well-characterized susceptibility genes for hereditary pheochromocytoma…”
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    Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency by Jullien, Nicolas, Romanet, Pauline, Philippon, Mélanie, Quentien, Marie-Hélène, Beck-Peccoz, Paolo, Bergada, Ignacio, Odent, Sylvie, Reynaud, Rachel, Barlier, Anne, Saveanu, Alexandru, Brue, Thierry, Castinetti, Frederic

    Published in European journal of human genetics : EJHG (01-02-2019)
    “…LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants,…”
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    P18.07.A Hippo signaling pathway is strongly involved in meningioma tumorigenesis by Mougel, G, Mondielli, G, Appay, R, Querdray, A, Roche, C, Jijon, A, Konstantinova, I, Soude, A, Graillon, T, Barlier, A

    Published in Neuro-oncology (Charlottesville, Va.) (05-09-2022)
    “…Abstract Background Recurrent and aggressive meningiomas remain an unmet medical need in neuro-oncology. In mammals, Hippo signaling pathway is responsible for…”
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