| 1 | 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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| 2 | 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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| 3 | PGL1, SDHD
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| Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
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| Peczkowska M, Erlic Z, Hoffmann MM, Furmanek M, Cwikla J, Kubaszek A, Prejbisz A, Szutkowski Z, Kawecki A, Chojnowski K, Lewczuk A, Litwin M, Szyfter W, Walter MA, Sullivan M, Eng C, Januszewicz A, Neumann HP.
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| J Clin Endocrinol Metab 93(12):4818-25. Epub 2008 Sep 30.
2008
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| 4 | 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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| 5 | SDHD, PGL1
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| A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma.
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| Ogawa K, Shiga K, Saijo S, Ogawa T, Kimura N, Horii A.
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| Am J Med Genet A 140(22):2441-6. 2006
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| 6 | 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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| 7 | PGL1, SDHD
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| Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.
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| Milunsky JM, Maher TA, Michels VV, Milunsky A.
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| Am J Med Genet 100(4):311-4. 2001
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| 8 | PGL1, SDHD, TIMM8B
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| Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.
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| Badenhop RF, Cherian S, Lord RS, Baysal BE, Taschner PE, Schofield PR.
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| Genes Chromosomes Cancer 31(3):255-63. 2001
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| 9 | BCS1L, 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
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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| 10 | PGL1, SDHD
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| Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL1), in pheochromocytomas.
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| Aguiar RC, Cox G, Pomeroy SL, Dahia PL.
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| J Clin Endocrinol Metab 86(6):2890-4. 2001
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| 11 | PGL1, SDHD
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| Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
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| Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B.
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| Science 287(5454):848-51 2000
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| 12 | PGL1
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| Repositioning the hereditary paraganglioma critical region on chromosome band 11q23.
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| Baysal BE, et al.
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| Hum Genet 104(3):219-25. 1999
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| 13 | PGL1, PPP2R1B
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| Genomic organization and precise physical location of protein phosphatase 2A regulatory subunit A beta isoform gene on chromosome band 11q23.
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| Baysal BE, et al.
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| Gene 217 : 107-116. 1998
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| 14 | PGL1, ST3
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| Paragangliomas of the head and neck region show complete loss of heterozygosity at 11q22-q23 in chief cells and the flow-sorted DNA aneuploid fraction.
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| van Schothorst EM, Beekman M, Torremans P, Kuipers-Dijkshoorn NJ, Wessels HW, Bardoel AF, van der Mey AG, van der Vijver MJ, van Ommen GJ, Devilee P, Cornelisse CJ.
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| Hum Pathol 29 : 1045-1049. 1998
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| 15 | PGL1
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| Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.
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| Baysal BE, et al.
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| Am J Hum Genet 60 : 121-132. 1997
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| 16 | PGL1
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| Familial paragangliomas: linkage to chromosome 11q23 and clinical implications.
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| Milunsky J, DeStefano AL, Huang XL, Baldwin CT, Michels VV, Jako G, Milunsky A.
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| Am J Med Genet 72(1):66-70. 1997
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| 17 | PGL1, ZBTB16
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| A high-resolution STS, EST, and gene-based physical map of the hereditary paraganglioma region on chromosome 11q23.
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| Baysal BE, van Schothorst EM, Farr JE, James MR, Devilee P, Richard CW 3rd.
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| Genomics 44(2):214-21. 1997
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| 18 | PGL1
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| Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2-cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes.
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| van Schothorst EM, et al.
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| Eur J Hum Genet 4 : 267-273. 1996
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| 19 | PGL1
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| Allelotype of head and neck paragangliomas : allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locus PGL.
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| Devilee P, et al.
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| Genes Chromosomes Cancer 11 : 71-78. 1994
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| 20 | PGL1
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| Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families.
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| Heutink P, et al.
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| Eur J Hum Genet 2 : 148-158. 1994
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| 21 | PGL1
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| A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.
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| Heutink P, et al.
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| Hum Mol Genet 1 : 7-10. 1992
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