| 1 | SDHB, SDHD
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| Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
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| Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER.
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| Hum Mutat 31(1):41-51.PMID: 19802898 2010
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| 2 | SDHC, SDHD
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| Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.
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| Bayley JP, Weiss MM, Grimbergen A, van Brussel BT, Hes FJ, Jansen JC, Verhoef S, Devilee P, Corssmit EP, Vriends AH.
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| Endocr Relat Cancer 16(3):929-37. doi: 10.1677/ERC-09-0084. Epub 2009 Jun 22.
2009
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| 3 | SDHB, SDHC, SDHD, TIMM8B
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| Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.2009 PMID:
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| Bayley JP, Weiss MM, Grimbergen A, van Brussel BT, Hes FJ, Jansen JC, Verhoef S, Devilee P, Corssmit EP, Vriends AH.
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| Endocr Relat Cancer. Sep;16(3):929-37. doi: 10.1677/ERC-09-0084. Epub 2009 Jun 22. 2009
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| 4 | 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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| 5 | SDHB, SDHD
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| Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
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| Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C.
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| Am J Hum Genet 83(2):261-8.
2008
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| 6 | 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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| 7 | CWS2, CWS3, SDHB, SDHD
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| Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
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| Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C.
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| Am J Hum Genet 83(2):261-8. doi: 10.1016/j.ajhg.2008.07.011.
2008
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| 8 | SDHB, SDHD
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| Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.
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| Isobe K, Minowada S, Tatsuno I, Suzukawa K, Nissato S, Nanmoku T, Hara H, Yashiro T, Kawakami Y, Takekoshi K.
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| Horm Res 68(2):68-71. Epub 2007 Feb 15.
2007
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| 9 | 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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| 10 | 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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| 11 | SDHB, SDHD
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| SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.
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| Mhatre AN, Li Y, Feng L, Gasperin A, Lalwani AK.
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| Clin Genet 66(5):461-6. 2004
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| 12 | SDHD
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| Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas.
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| Kytola S, Nord B, Elder EE, Carling T, Kjellman M, Cedermark B, Juhlin C, Hoog A, Isola J, Larsson C.
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| Genes Chromosomes Cancer 34(3):325-32. 2002
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| 13 | SDHD
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| Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.
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| Cascon A, Ruiz-Llorente S, Cebrian A, Telleria D, Rivero JC, Diez JJ, Lopez-Ibarra PJ, Jaunsolo MA, Benitez J, Robledo M.
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| Eur J Hum Genet 10(8):457-61. 2002
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| 14 | 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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| 15 | 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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| 16 | D11S5004, D11S5005, D11S5006, D11S5007, D11S5008, D11S5009, D11S5010, D11S5012, D11S5013, D11S5014, D11S5015, D11S5016, D11S5017, D11S5018, D11S5020, PPP2R1B, SDHD
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| A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region.
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| Baysal BE, Willett-Brozick JE, Taschner PE, Dauwerse JG, Devilee P, Devlin B.
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| Eur J Hum Genet 9(2):121-9. 2001
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| 17 | 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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| 18 | SDHD
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| Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.
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| Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Brocker-Vriends AH, van Der Mey AG, van Ommen GJ, Cornelisse CJ, Devilee P.
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| Genes Chromosomes Cancer 31(3):274-81. 2001
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| 19 | SDHD
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| The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.
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| Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rotig A, Jeunemaitre X.
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| Am J Hum Genet 69(6):1186-97. 2001
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| 20 | 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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| 21 | 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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| 22 | SDHD
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| Germline SDHD mutation in paraganglioma of the spinal cord.
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| Masuoka J, Brandner S, Paulus W, Soffer D, Vital A, Chimelli L, Jouvet A, Yonekawa Y, Kleihues P, Ohgaki H.
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| Oncogene 20(36):5084-6. 2001
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| 23 | 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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| 24 | SDHD, SDHDP1, SDHDP2, SDHDP3, SDHDP4, SDHDP5, SDHDP6
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| Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase.
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| Hirawake H, Taniwaki M, Tamura A, Amino H, Tomitsuka E, Kita K.
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| Biochim Biophys Acta 1412(3):295-300. 1999
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| 25 | SDHC, SDHD
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| Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase) : cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.
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| Hirawake H, et al.
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| Cytogenet Cell Genet 79 : 132-138. 1997
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