Human Genome Epidemiology Literature Finder
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Records 1 - 22 (of 22 Records) |
| Query Trace: SDHAF2[original query] |
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| Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. The Journal of clinical endocrinology and metabolism 2010 Mar 95 (3): 1274-8. Gaal José, Burnichon Nelly, Korpershoek Esther, Roncelin Isabelle, Bertherat Jérôme, Plouin Pierre-François, de Krijger Ronald R, Gimenez-Roqueplo Anne-Paule, Dinjens Winand N |
| SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. The Lancet. Oncology 2010 Apr 11 (4): 366-72. Bayley Jean-Pierre, Kunst Henricus P M, Cascon Alberto, Sampietro Maria Lourdes, Gaal José, Korpershoek Esther, Hinojar-Gutierrez Adolfo, Timmers Henri J L M, Hoefsloot Lies H, Hermsen Mario A, Suárez Carlos, Hussain A Karim, Vriends Annette H J T, Hes Frederik J, Jansen Jeroen C, Tops Carli M, Corssmit Eleonora P, de Knijff Peter, Lenders Jacques W M, Cremers Cor W R J, Devilee Peter, Dinjens Winand N M, de Krijger Ronald R, Robledo Merced |
| Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. Clinical endocrinology 2011 Nov 75 (5): 650-5. Hensen E F, Siemers M D, Jansen J C, Corssmit E P M, Romijn J A, Tops C M J, van der Mey A G L, Devilee P, Cornelisse C J, Bayley J P, Vriends A H J |
| SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. Clinical cancer research : an official journal of the American Association for Cancer Research 2011 1 17 (2): 247-54. Kunst Henricus P M, Rutten Martijn H, de Mönnink Jan-Pieter, Hoefsloot Lies H, Timmers Henri J L M, Marres Henri A M, Jansen Jeroen C, Kremer Hannie, Bayley Jean-Pierre, Cremers Cor W R |
| 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 |
| Aggregation of rare/low-frequency variants of the mitochondria respiratory chain-related proteins in rheumatoid arthritis patients. Journal of human genetics 2015 Aug 60 (8): 449-54. Mitsunaga Shigeki, Hosomichi Kazuyoshi, Okudaira Yuko, Nakaoka Hirofumi, Suzuki Yasuo, Kuwana Masataka, Sato Shinji, Kaneko Yuko, Homma Yasuhiko, Oka Akira, Shiina Takashi, Inoko Hidetoshi, Inoue Itu |
| 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 |
| [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 |
| Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysis. Journal of medical genetics 2019 10 57 (4): 217-225. Lee Hansong, Jeong Seongdo, Yu Yeuni, Kang Junho, Sun Hokeun, Rhee Je-Keun, Kim Yun H |
| Positive Immunostaining for Succinate Dehydrogenase B (SDHB) in Paraganglioma Associated with Germline Mutation of SDHB, L157X and P236S. The Tokai journal of experimental and clinical medicine 2020 9 45 (3): 148-151. Sato Haruhiro, Inomoto Ch |
| 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 |
| Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas. Frontiers in genetics 2020 11 614908. Snezhkina Anastasiya V, Fedorova Maria S, Pavlov Vladislav S, Kalinin Dmitry V, Golovyuk Alexander L, Pudova Elena A, Guvatova Zulfiya G, Melnikova Nataliya V, Dmitriev Alexey A, Razmakhaev George S, Poloznikov Andrey A, Alekseeva Galina S, Kaprin Andrey D, Krasnov George S, Kudryavtseva Anna |
| 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 |
- Page last reviewed:Feb 1, 2024
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