Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Syndrome and SDHB[original query] |
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| Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. American journal of human genetics 2004 Jan 74 (1): 153-9. Vanharanta Sakari, Buchta Mary, McWhinney Sarah R, Virta Sanna K, Peçzkowska Mariola, Morrison Carl D, Lehtonen Rainer, Januszewicz Andrzej, Järvinen Heikki, Juhola Matti, Mecklin Jukka-Pekka, Pukkala Eero, Herva Riitta, Kiuru Maija, Nupponen Nina N, Aaltonen Lauri A, Neumann Hartmut P H, Eng Char |
| Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. Annals of the New York Academy of Sciences 2006 Aug 1073 (): 138-48. Korpershoek E, Van Nederveen F H, Dannenberg H, Petri B J, Komminoth P, Perren A, Lenders J W, Verhofstad A A, De Herder W W, De Krijger R R, Dinjens W N |
| Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. American journal of human genetics 2008 Aug 83 (2): 261-8. Ni Ying, Zbuk Kevin M, Sadler Tammy, Patocs Attila, Lobo Glenn, Edelman Emily, Platzer Petra, Orloff Mohammed S, Waite Kristin A, Eng Char |
| Germline SDHB mutations and familial renal cell carcinoma. Journal of the National Cancer Institute 2008 Sep 100 (17): 1260-2. Ricketts Christopher, Woodward Emma R, Killick Pip, Morris Mark R, Astuti Dewi, Latif Farida, Maher Eamonn |
| An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. The Lancet. Oncology 2009 Aug 10 (8): 764-71. van Nederveen Francien H, Gaal José, Favier Judith, Korpershoek Esther, Oldenburg Rogier A, de Bruyn Elly M C A, Sleddens Hein F B M, Derkx Pieter, Rivière Julie, Dannenberg Hilde, Petri Bart-Jeroen, Komminoth Paul, Pacak Karel, Hop Wim C J, Pollard Patrick J, Mannelli Massimo, Bayley Jean-Pierre, Perren Aurel, Niemann Stephan, Verhofstad Albert A, de Bruïne Adriaan P, Maher Eamonn R, Tissier Frédérique, Méatchi Tchao, Badoual Cécile, Bertherat Jérôme, Amar Laurence, Alataki Despoina, Van Marck Eric, Ferrau Francesco, François Jerney, de Herder Wouter W, Peeters Mark-Paul F M Vrancken, van Linge Anne, Lenders Jacques W M, Gimenez-Roqueplo Anne-Paule, de Krijger Ronald R, Dinjens Winand N |
| 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 |
| Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. Endokrynologia Polska 0 61 (1): 43-8. Krawczyk Aleksandra, Hasse-Lazar Kornelia, Pawlaczek Agnieszka, Szpak-Ulczok Sylwia, Krajewska Jolanta, Paliczka-Cie?lak Ewa, Jurecka-Lubieniecka Beata, Roskosz Józef, Chmielik Ewa, Ziaja Jacek, Cierpka Lech, Peczkowska Mariola, Preibisz Aleksander, Januszewicz Andrzej, Otto Maciej, Jarzab Barba |
| 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 |
| High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations. European journal of human genetics : EJHG 2013 Apr 21 (4): 469-70. Heesterman Berdine L, Bayley Jean Pierre, Tops Carli M, Hes Frederik J, van Brussel Bernadette T J, Corssmit Eleonora P M, Hamming Jaap F, van der Mey Andel G L, Jansen Jeroen |
| Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. JAMA oncology 2015 Apr 1 (1): 23-32. Hansford Samantha, Kaurah Pardeep, Li-Chang Hector, Woo Michelle, Senz Janine, Pinheiro Hugo, Schrader Kasmintan A, Schaeffer David F, Shumansky Karey, Zogopoulos George, Santos Teresa Almeida, Claro Isabel, Carvalho Joana, Nielsen Cydney, Padilla Sarah, Lum Amy, Talhouk Aline, Baker-Lange Katie, Richardson Sue, Lewis Ivy, Lindor Noralane M, Pennell Erin, MacMillan Andree, Fernandez Bridget, Keller Gisella, Lynch Henry, Shah Sohrab P, Guilford Parry, Gallinger Steven, Corso Giovanni, Roviello Franco, Caldas Carlos, Oliveira Carla, Pharoah Paul D P, Huntsman David |
| Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. European journal of human genetics : EJHG 2015 Jul . Boikos Sosipatros A, Xekouki Paraskevi, Fumagalli Elena, Faucz Fabio R, Raygada Margarita, Szarek Eva, Ball Evan, Kim Su Young, Miettinen Markku, Helman Lee J, Carney J Aidan, Pacak Karel, Stratakis Constantine |
| Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer. Endocrine-related cancer 2015 Apr 22 (2): 121-30. Ni Ying, Seballos Spencer, Ganapathi Shireen, Gurin Danielle, Fletcher Benjamin, Ngeow Joanne, Nagy Rebecca, Kloos Richard T, Ringel Matthew D, LaFramboise Thomas, Eng Char |
| 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 |
| 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 |
| Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations. BJS open 2018 6 2 (2): 62-69. Rijken J A, Niemeijer N D, Leemans C R, Eijkelenkamp K, van der Horst-Schrivers A N A, van Berkel A, Timmers H J L M, Kunst H P M, Bisschop P H L T, van Dooren M F, Hes F J, Jansen J C, Corssmit E P M, Hensen E |
| Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. Journal of medical genetics 2019 9 57 (2): 96-103. Bayley Jean Pierre, Bausch Birke, Rijken Johannes Adriaan, van Hulsteijn Leonie Theresia, Jansen Jeroen C, Ascher David, Pires Douglas Eduardo Valente, Hes Frederik J, Hensen Erik F, Corssmit Eleonora P M, Devilee Peter, Neumann Hartmut P |
| The Impact Of Succinate Dehydrogenase Gene (SDH) Mutations In Renal Cell Carcinoma (RCC): A Systematic Review. OncoTargets and therapy 2019 10 12 7929-7940. Aghamir Seyed Mohammad Kazem, Heshmat Ramin, Ebrahimi Mehdi, Ketabchi Seyed Ebrahim, Parichehreh Dizaji Somayeh, Khatami Fatem |
| Role of [68Ga]DOTANOC PET/computed tomography and [131I]MIBG scintigraphy in the management of patients with pheochromocytoma and paraganglioma: a prospective study. Nuclear medicine communications 2020 8 41 (10): 1047-1059. Singh Deepa, Shukla Jaya, Walia Rama, Vatsa Rakhee, Paul Nandini, Chhabra Anupriya, Nahar Uma, Singh Harmandeep, Kumar Rajender, Bhansali Anil, Rai Mittal Bhagwa |
| Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China. Translational andrology and urology 2020 5 9 (2): 267-275. Li Minghao, Wang Cikui, Liu Peihua, Qi Lin, Chen Xiang, Fan Benyi, Zhang Xiangyang, Zhang Bo, Xiao Qiao, Yu Anze, Liu Longf |
| Pseudohypoxic pheochromocytomas and paragangliomas dominate in children. Pediatric blood & cancer 2021 3 68 (7): e28981. Redlich Antje, Pamporaki Christina, Lessel Lienhard, Frühwald Michael C, Vorwerk Peter, Kuhlen Michae |
| Genetic Predisposition to Pheochromocytoma and Paraganglioma: 21 Years' Experience in the Field. Annales d'endocrinologie 2024 5 . Catherine Cardot-Bauters, Marie-Christine Vantyghem, Christine Do Cao, Rachel Desailloud, Michael Joubert, Lucie Coppin, Marie-Francoise Odou, Pascal Pig |
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