| 1 | CWS2, PGL4, SDHB
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| Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.
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| Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar AV, McAndrew L, Martin L, Berney D, Monson J, Chew SL, Waterhouse M, Druce M, Korbonits M, Metcalfe K, Drake WM, Storr HL, Akker SA.
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| Clin Endocrinol (Oxf) lin Endocrinol (Oxf). 2016 Sep 28. doi: 10.1111/cen.13246. [Epub ahead of print]
2016
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| 2 | CWS2, PGL4, SDHB
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| Structural and functional consequences of succinate dehydrogenase subunit B mutations.
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| Kim E, Rath EM, Tsang VH, Duff AP, Robinson BG, Church WB, Benn DE, Dwight T, Clifton-Bligh RJ.
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| Endocr Relat Cancer 22(3):387-97. doi: 10.1530/ERC-15-0099.
2015
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| 3 | PGL4, SDHB
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| The presence of SDHB mutations should modify surgical indications for carotid body paragangliomas.
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| Ellis RJ, Patel D, Prodanov T, Nilubol N, Pacak K, Kebebew E.
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| Ann Surg 260(1):158-62. doi: 10.1097/SLA.0000000000000283.
2014
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| 4 | PGL4, SDHB
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| Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.
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| Schimke RN, Collins DL, Stolle CA.
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| Am J Med Genet A 152A(6):1531-5.PMID: 20503330 2010
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| 5 | PGL4, SDHB
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| Penetrance and clinical consequences of a gross SDHB deletion in a large family.
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| Solis DC, Burnichon N, Timmers HJ, Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K.
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| Clin Genet 75(4):354-63.
2009
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| 6 | SDHD, PGL1, SDHC, PGL3, SDHD, PGL4
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| Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
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| Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roqueplo AP, Eng C, Carney JA, Stratakis CA.
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| Eur J Hum Genet 16(1):79-88. Epub 2007 Aug 1. 2008
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| 7 | SDHB, PGL4
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| Molecular characterisation of a common SDHB deletion in paraganglioma patients.
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| Cascn A, Landa I, Lpez-Jiménez E, Dez-Hernndez A, Buchta M, Montero-Conde C, Leskel S, Leandro-Garca LJ, Letn R, Rodrguez-Antona C, Eng C, Neumann HP, Robledo M.
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| J Med Genet 45(4):233-8. Epub 2007 Dec 5. 2008
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| 8 | PGL1, PGL2, PGL3, PGL4, SDHB, SDHC SDHD
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| Clinical and molecular progress in hereditary paraganglioma.
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| Baysal BE.
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| J Med Genet 45(11):689-94.
2008
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| 9 | PGL4, SDHB
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| Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.
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| Timmers HJ, Pacak K, Huynh TT, Abu-Asab M, Tsokos M, Merino MJ, Baysal BE, Adams KT, Eisenhofer G.
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| J Clin Endocrinol Metab 93(12):4826-32. Epub 2008 Oct 7.
2008
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| 10 | PGL4, SDHB
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| High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.
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| Brouwers FM, Eisenhofer G, Tao JJ, Kant JA, Adams KT, Linehan WM, Pacak K.
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| J Clin Endocrinol Metab 91(11):4505-9. Epub 2006 Aug 15.
2006
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| 11 | PGL1, PGL2, PGL3, PGL4, PGL5, SDHB, SDHD, SDHC
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| Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
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| Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG.
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| J Clin Endocrinol Metab 91(3):827-36. Epub 2005 Nov 29. 2006
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| 12 | PGL1, PGL2, PGL3, PGL4, SDHB, SDHC, SDHD
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| Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
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| Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS.
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| J Med Genet 39(3):178-83. 2002
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