Citations for
1PGL2, SDHAF2
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.
Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J.
Science 325(5944):1139-42. Epub 2009 Jul 23. 2009
2PGL1, PGL2, PGL3, PGL4, SDHB, SDHC SDHD
Clinical and molecular progress in hereditary paraganglioma.
Baysal BE.
J Med Genet 45(11):689-94. 2008
3PGL1, 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
4PGL1, 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
5BCS1L, 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
6PGL2
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1 : evidence for genetic heterogeneiy.
Mariman ECM, et al.
Hum Genet 95 : 56-62. 1995
7PGL2
Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q.
Mariman ECM, et al.
Hum Genet 91 : 357-361. 1993