Citations for
1PGL3, SDHC
The Role of Immunohistochemistry and Molecular Analysis of Succinate Dehydrogenase in the Diagnosis of Endocrine and Non-Endocrine Tumors and Related Syndromes.
Oudijk L, Gaal J, de Krijger RR.
Endocr Pathol 30(1):64-73. doi: 10.1007/s12022-018-9555-2. Review. 2019
2PGL3, SDHC
Metastatic sympathetic paraganglioma in a patient with loss of the SDHC gene.
Rich T, Jackson M, Roman-Gonzalez A, Shah K, Cote GJ, Jimenez C.
Fam Cancer 14(4):615-9. doi: 10.1007/s10689-015-9821-0. Epub 2015 Jul 11. 2015
3PGL3, SDHC
The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).
Else T, Marvin ML, Everett JN, Gruber SB, Arts HA, Stoffel EM, Auchus RJ, Raymond VM.
J Clin Endocrinol Metab 99(8):E1482-6. doi: 10.1210/jc.2013-3853. Epub 2014 Apr 23. 2014
4SDHD, PGL1, SDHC, PGL3, SDHD, PGL4
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.
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.
Eur J Hum Genet 16(1):79-88. Epub 2007 Aug 1. 2008
5PGL1, PGL2, PGL3, PGL4, SDHB, SDHC SDHD
Clinical and molecular progress in hereditary paraganglioma.
Baysal BE.
J Med Genet 45(11):689-94. 2008
6PGL1, PGL2, PGL3, PGL4, PGL5, SDHB, SDHD, SDHC
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
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.
J Clin Endocrinol Metab 91(3):827-36. Epub 2005 Nov 29. 2006
7PGL1, PGL2, PGL3, PGL4, SDHB, SDHC, SDHD
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
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.
J Med Genet 39(3):178-83. 2002
8PGL3
Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma.
Niemann S, Becker-Follmann J, NŸrnberg G, RŸschendorf F, Sieweke N, HŸgens-Penzel M, Traupe H, Wienker TF, Reis A, MŸller U.
Am J Med Genet 98 : 32-36. 2001
9BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
Nuclear genetic defects of oxidative phosphorylation.
Shoubridge EA.
Hum Mol Genet 10(20):2277-84. Review. 2001