Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Paraganglioma 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 |
| Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. The Journal of clinical endocrinology and metabolism 2011 Aug 96 (8): E1279-82. Neumann Hartmut P H, Sullivan Maren, Winter Aurelia, Malinoc Angelica, Hoffmann Michael M, Boedeker Carsten C, Bertz Hartmut, Walz Martin K, Moeller Lars C, Schmid Kurt W, Eng Char |
| Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma. Clinical endocrinology 2012 Nov 77 (5): 707-14. Takeichi Naomi, Midorikawa Sanae, Watanabe Atsushi, Naing Banyar Than, Tamura Hideki, Wakakuri-Kano Toshiko, Ishizaki Akira, Sugihara Hitoshi, Nissato Sumiko, Saito Yuria, Aita Yuichi, Ishii Kiyo-aki, Igarashi Takehito, Kawakami Yasushi, Hara Hisato, Ikeda Tatsuhiko, Shimizu Kazuo, Suzuki Shinichi, Shimano Hitoshi, Kawamoto Masashi, Shimada Takashi, Watanabe Tsuyoshi, Oikawa Shinichi, Takekoshi Kazuhi |
| 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 |
| A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. The Journal of clinical endocrinology and metabolism 2013 Jul 98 (7): E1248-56. Rattenberry Eleanor, Vialard Lindsey, Yeung Anna, Bair Hayley, McKay Kirsten, Jafri Mariam, Canham Natalie, Cole Trevor R, Denes Judit, Hodgson Shirley V, Irving Richard, Izatt Louise, Korbonits Márta, Kumar Ajith V, Lalloo Fiona, Morrison Patrick J, Woodward Emma R, Macdonald Fiona, Wallis Yvonne, Maher Eamonn |
| Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. Clinical endocrinology 2013 Dec 79 (6): 817-23. P?czkowska Mariola, Kowalska Aldona, Sygut Jacek, Waligórski Dariusz, Malinoc Angelica, Janaszek-Sitkowska Hanna, Prejbisz Aleksander, Januszewicz Andrzej, Neumann Hartmut P |
| 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 |
| Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. The Journal of clinical endocrinology and metabolism 2014 Jul 99 (7): E1352-60. Welander Jenny, Andreasson Adam, Juhlin C Christofer, Wiseman Roger W, Bäckdahl Martin, Höög Anders, Larsson Catharina, Gimm Oliver, Söderkvist Pet |
| Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation. The Journal of clinical endocrinology and metabolism 2014 Jul 99 (7): E1392-6. Casey Ruth, Garrahy Aoife, Tuthill Antoinette, O'Halloran Domhnall, Joyce Caroline, Casey Mary B, O'Shea Paula, Bell Marc |
| Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. European journal of medical genetics 2015 Sep 58 (9): 433-8. Zhu W D, Wang Z Y, Chai Y C, Wang X W, Chen D Y, Wu |
| Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis. International journal of endocrinology 2015 2015 138573. Luchetti Andrea, Walsh Diana, Rodger Fay, Clark Graeme, Martin Tom, Irving Richard, Sanna Mario, Yao Masahiro, Robledo Mercedes, Neumann Hartmut P H, Woodward Emma R, Latif Farida, Abbs Stephen, Martin Howard, Maher Eamonn |
| A registry-based study of thyroid paraganglioma: histological and genetic characteristics. Endocrine-related cancer 2015 Apr 22 (2): 191-204. von Dobschuetz Ernst, Leijon Helena, Schalin-Jäntti Camilla, Schiavi Francesca, Brauckhoff Michael, Peczkowska Mariola, Spiazzi Giovanna, Demattè Serena, Cecchini Maria Enrica, Sartorato Paola, Krajewska Jolanta, Hasse-Lazar Kornelia, Roszkowska-Purska Katarzyna, Taschin Elisa, Malinoc Angelica, Akslen Lars A, Arola Johanna, Lange Dariusz, Fassina Ambrogio, Pennelli Gianmaria, Barbareschi Mattia, Luettges Jutta, Prejbisz Aleksander, Januszewicz Andrzej, Strate Tim, Bausch Birke, Castinetti Frederic, Jarzab Barbara, 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 |
| Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era. Critical reviews in oncology/hematology 2016 Apr 100 190-208. Pillai Suja, Gopalan Vinod, Smith Robert A, Lam Alfred K |
| Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. American journal of medical genetics. Part A 2016 Oct . Murakoshi Miki, Takasawa Kei, Nishioka Masato, Asakawa Masahiro, Kashimada Kenichi, Yoshimoto Takanobu, Yamamoto Toshiyuki, Takekoshi Kazuhiro, Ogawa Yoshihiro, Shimohira Masayu |
| [Hereditary pheochromocytoma-associated syndromes. Part 2]. Terapevticheskii arkhiv 2017 6 87 (10): 115-119. Yukina M Yu, Troshina E A, Beltsevich D |
| Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma. Oncotarget 2019 11 10 (57): 5919-5931. Albattal Shatha, Alswailem Meshael, Moria Yosra, Al-Hindi Hindi, Dasouki Majed, Abouelhoda Mohamed, Alkhail Hala Aba, Alsuhaibani Entissar, Alzahrani Ali |
| Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study. Frontiers in endocrinology 2020 12 11 574662. Ma Xiaosen, Li Ming, Tong Anli, Wang Fen, Cui Yunying, Zhang Xuebin, Zhang Yushi, Chen Shi, Li Yux |
| Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update. The Journal of clinical endocrinology and metabolism 2020 10 106 (1): e350-e364. Armaiz-Pena Gustavo, Flores Shahida K, Cheng Zi-Ming, Zhang Xhingyu, Esquivel Emmanuel, Poullard Natalie, Vaidyanathan Anusha, Liu Qianqian, Michalek Joel, Santillan-Gomez Alfredo A, Liss Michael, Ahmadi Sara, Katselnik Daniel, Maldonado Enrique, Salgado Sarimar Agosto, Jimenez Camilo, Fishbein Lauren, Hamidi Oksana, Else Tobias, Lechan Ron, Tischler Art S, Benn Diana E, Dwight Trisha, Clifton-Bligh Rory, Sanso Gabriela, Barontini Marta, Vincent Deepa, Aronin Neil, Biondi Bernadette, Koops Maureen, Bowhay-Carnes Elizabeth, Gimenez-Roqueplo Anne-Paule, Alvarez-Eslava Andrea, Bruder Jan M, Kitano Mio, Burnichon Nelly, Ding Yanli, Dahia Patricia L |
| Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma. Journal of kidney cancer and VHL 2021 8 (1): 19-24. Yalcintepe Sinem, Gurkan Hakan, Korkmaz Fatma Nur, Demir Selma, Atli Engin, Eker Damla, Guler Hazal Sezginer, Zhuri Drenusha, Atli Emine Ikbal, Salt Semra Ayturk, Sahin Mustafa, Guldiken Sib |
| 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 |
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