Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and TMEM127[original query] |
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| Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA 2010 Dec 304 (23): 2611-9. Yao Li, Schiavi Francesca, Cascon Alberto, Qin Yuejuan, Inglada-Pérez Lucia, King Elizabeth E, Toledo Rodrigo A, Ercolino Tonino, Rapizzi Elena, Ricketts Christopher J, Mori Luigi, Giacchè Mara, Mendola Antonella, Taschin Elisa, Boaretto Francesca, Loli Paola, Iacobone Maurizio, Rossi Gian-Paolo, Biondi Bernadette, Lima-Junior José Viana, Kater Claudio E, Bex Marie, Vikkula Miikka, Grossman Ashley B, Gruber Stephen B, Barontini Marta, Persu Alexandre, Castellano Maurizio, Toledo Sergio P A, Maher Eamonn R, Mannelli Massimo, Opocher Giuseppe, Robledo Mercedes, Dahia Patricia L |
| TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. The Journal of clinical endocrinology and metabolism 2012 May 97 (5): E805-9. Abermil Nassera, Guillaud-Bataille Marine, Burnichon Nelly, Venisse Annabelle, Manivet Philippe, Guignat Laurence, Drui Delphine, Chupin Maurice, Josseaume Claire, Affres Hélène, Plouin Pierre-François, Bertherat Jérôme, Jeunemaître Xavier, Gimenez-Roqueplo Anne-Pau |
| Long-term prognosis of patients with pediatric pheochromocytoma. Endocrine-related cancer 2014 Feb 21 (1): 17-25. Bausch Birke, Wellner Ulrich, Bausch Dirk, Schiavi Francesca, Barontini Marta, Sanso Gabriela, Walz Martin K, Peczkowska Mariola, Weryha Georges, Dall'igna Patrizia, Cecchetto Giovanni, Bisogno Gianni, Moeller Lars C, Bockenhauer Detlef, Patocs Attila, Rácz Karoly, Zabolotnyi Dmitry, Yaremchuk Svetlana, Dzivite-Krisane Iveta, Castinetti Frederic, Taieb David, Malinoc Angelica, von Dobschuetz Ernst, Roessler Jochen, Schmid Kurt W, Opocher Giuseppe, Eng Charis, Neumann Hartmut P |
| Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome. Pathology oncology research : POR 2016 Mar . Patócs Attila, Lendvai Nikoletta K, Butz Henriett, Liko Istvan, Sapi Zoltan, Szucs Nikolette, Toth Geza, Grolmusz Vince K, Igaz Peter, Toth Miklos, Rácz Káro |
| Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation. Case reports in endocrinology 2019 11 2019 2502174. Fernández-Pombo Antía, Cameselle-Teijeiro José M, Puñal-Rodríguez Jose A, Loidi Lourdes, Peinó-García Roberto, Cabanas-Rodríguez Paloma, Garrido-Pumar Miguel, Baleato-González Sandra, Flores-Ríos Enrique, Araújo-Vilar Dav |
| Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia. Medicina (Kaunas, Lithuania) 2022 Aug 58 (8): . Provenzano Aldesia, Chetta Massimiliano, De Filpo Giuseppina, Cantini Giulia, La Barbera Andrea, Nesi Gabriella, Santi Raffaella, Martinelli Serena, Rapizzi Elena, Luconi Michaela, Maggi Mario, Mannelli Massimo, Ercolino Tonino, Canu Letiz |
| Genotype-phenotype associations in paragangliomas of the temporal bone in a multi-ethnic cohort. Acta oto-laryngologica 2023 6 1-7. Simon I Angeli, Juan A Chiossone K, Stefania Goncalves, Fred F Telisc |
| [Neurofibromatosis type 1 associated with pheochromocytoma: a case report with a brief review of the literature]. Problemy endokrinologii 2024 5 70 (2): 53-64. A Y Lugovskaya, T A Britvin, L E Gurevich, I S Rog, L N Nefedova, I A Ilovayska |
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