Search Results - "Barlier, Anne"

Letter to the Editor: The Somatic RET M918T Variant May Modify the Natural History of Germline RET L790F MEN2-Related Medullary Thyroid Carcinoma by Sahakian, Nicolas, Romanet, Pauline, Mirebeau-Prunier, Delphine, Paladino, Cinzia, Castinetti, Frederic, Barlier, Anne

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Everolimus and Octreotide for Patients with Recurrent Meningioma: Results from the Phase II CEVOREM Trial by Graillon, Thomas, Sanson, Marc, Campello, Chantal, Idbaih, Ahmed, Peyre, Matthieu, Peyrière, Hadrien, Basset, Noémie, Autran, Didier, Roche, Catherine, Kalamarides, Michel, Roche, Pierre-Hugues, Fuentes, Stéphane, Tabouret, Emeline, Barrie, Maryline, Cohen, Anita, Honoré, Stéphane, Boucekine, Mohamed, Baumstarck, Karine, Figarella-Branger, Dominique, Barlier, Anne, Dufour, Henry, Chinot, Olivier Louis

“…Aggressive meningiomas that progress after surgery/radiotherapy represent an unmet medical need. Strong and constant expression of SSTR2A receptors and…”
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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

“…OBJECTIVE Meningiomas express somatostatin receptor subtype 2 (SST2), which is targeted by the somatostatin analog octreotide. However, to date, using…”
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From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network by Thiele, Susanne, Mantovani, Giovanna, Barlier, Anne, Boldrin, Valentina, Bordogna, Paolo, De Sanctis, Luisa, Elli, Francesca M, Freson, Kathleen, Garin, Intza, Grybek, Virginie, Hanna, Patrick, Izzi, Benedetta, Hiort, Olaf, Lecumberri, Beatriz, Pereda, Arrate, Saraff, Vrinda, Silve, Caroline, Turan, Serap, Usardi, Alessia, Werner, Ralf, de Nanclares, Guiomar Perez, Linglart, Agnès

“…Objective Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term…”
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Prospective comparison of Ga-68-DOTATATE and F-18-FDOPA PET/CT in patients with various pheochromocytomas and paragangliomas with emphasis on sporadic cases by Archier, Aurelien, Varoquaux, Arthur, Garrigue, Philippe, Montava, Marion, Guérin, Carole, Gabriel, Sophie, Beschmout, Eva, Morange, Isabelle, Fakhry, Nicolas, Castinetti, Frederic, Sebag, Frédéric, Barlier, Anne A., Loundou, Anderson, Guillet, Benjamin, Pacak, Karel, Taieh, David

“…Purpose Pheochromocytomas/paragangliomas (PHEOs/PGLs) overexpress ă somatostatin receptors and recent studies have already shown excellent ă results in the…”
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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

“…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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Role of the tumor microenvironment in digestive neuroendocrine tumors by Cuny, Thomas, de Herder, Wouter, Barlier, Anne, Hofland, Leo J

“…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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Hypoxia and the hypoxia inducible factor 1α activate protein kinase A by repressing RII beta subunit transcription by Lucia, Kristin, Wu, Yonghe, Garcia, Jose Monteserin, Barlier, Anne, Buchfelder, Michael, Saeger, Wolfgang, Renner, Ulrich, Stalla, Günter K., Theodoropoulou, Marily

“…Overactivation of the cAMP signal transduction pathway plays a central role in the pathogenesis of endocrine tumors. Genetic aberrations leading to increased…”
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Absence of IDH mutation identifies a novel radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis by Metellus, Philippe, Coulibaly, Bema, Colin, Carole, de Paula, Andre Maues, Vasiljevic, Alexandre, Taieb, David, Barlier, Anne, Boisselier, Blandine, Mokhtari, Karima, Wang, Xiao Wei, Loundou, Anderson, Chapon, Frederique, Pineau, Sandrine, L’Houcine Ouafik, Chinot, Olivier, Figarella-Branger, Dominique

“…The phenotypic heterogeneity of low-grade gliomas (LGGs) is still inconsistently explained by known molecular abnormalities in patients treated according to…”
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Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism by Romanet, Pauline, Osei, Lindsay, Netchine, Irène, Pertuit, Morgane, Enjalbert, Alain, Reynaud, Rachel, Barlier, Anne

“…Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A includes…”
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Editorial: New insights into multiple endocrine neoplasia type 1 by Barlier, Anne, Romanet, Pauline, Pellegata, Natalia S.

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MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives by Amodru, Vincent, Taieb, David, Guerin, Carole, Romanet, Pauline, Paladino, Nunzia, Brue, Thierry, Cuny, Thomas, Barlier, Anne, Sebag, Frederic, Castinetti, Frederic

“…Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary syndrome due to mutations of the proto-oncogene REarranged during Transfection (RET), defined…”
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Challenges in molecular diagnosis of multiple endocrine neoplasia by Romanet, Pauline, Charnay, Théo, Sahakian, Nicolas, Cuny, Thomas, Castinetti, Frédéric, Barlier, Anne

“…Multiple endocrine neoplasia (MEN) is a group of rare genetic diseases characterized by the occurrence of multiple tumors of the endocrine system in the same…”
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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

“…Background: The ‘3PAs’ syndrome, associating pituitary adenoma (PA) and pheochromocytoma/paraganglioma (PPGL), is sometimes associated with mutations in…”
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Somatotroph Tumors and the Epigenetic Status of the GNAS Locus by Romanet, Pauline, Galluso, Justine, Kamenicky, Peter, Hage, Mirella, Theodoropoulou, Marily, Roche, Catherine, Graillon, Thomas, Etchevers, Heather C., De Murat, Daniel, Mougel, Grégory, Figarella-Branger, Dominique, Dufour, Henry, Cuny, Thomas, Assié, Guillaume, Barlier, Anne

“…Forty percent of somatotroph tumors harbor recurrent activating GNAS mutations, historically called the gsp oncogene. In gsp-negative somatotroph tumors, GNAS…”
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UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population by Romanet, Pauline, Mohamed, Amira, Giraud, Sophie, Odou, Marie-Françoise, North, Marie-Odile, Pertuit, Morgane, Pasmant, Eric, Coppin, Lucie, Guien, Céline, Calender, Alain, Borson-Chazot, Françoise, Béroud, Christophe, Goudet, Pierre, Barlier, Anne

“…Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical…”
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Metabolome Profiling by HRMAS NMR Spectroscopy of Pheochromocytomas and Paragangliomas Detects SDH Deficiency: Clinical and Pathophysiological Implications by Imperiale, Alessio, Moussallieh, François-Marie, Roche, Philippe, Battini, Stéphanie, Cicek, A. Ercument, Sebag, Frédéric, Brunaud, Laurent, Barlier, Anne, Elbayed, Karim, Loundou, Anderson, Bachellier, Philippe, Goichot, Bernard, Stratakis, Constantine A, Pacak, Karel, Namer, Izzie-Jacques, Taïeb, David

“…Abstract Succinate dehydrogenase gene (SDHx) mutations increase susceptibility to develop pheochromocytomas/paragangliomas (PHEOs/PGLs). In the present study,…”
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Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome by Romanet, Pauline, Philibert, Pascal, Fina, Frédéric, Cuny, Thomas, Roche, Catherine, Ouafik, L'houcine, Paris, Françoise, Reynaud, Rachel, Barlier, Anne

“…The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger…”
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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

“…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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