Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 2002 Sep;39(9):617–622. doi: 10.1136/jmg.39.9.617

Hereditary paraganglioma targets diverse paraganglia

B Baysal 1
PMCID: PMC1735225  PMID: 12205103

Full Text

The Full Text of this article is available as a PDF (129.1 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aguiar R. C., Cox G., Pomeroy S. L., Dahia P. L. Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL1), in pheochromocytomas. J Clin Endocrinol Metab. 2001 Jun;86(6):2890–2894. doi: 10.1210/jcem.86.6.7547. [DOI] [PubMed] [Google Scholar]
  2. Andersen G. S., Toftdahl D. B., Lund J. O., Strandgaard S., Nielsen P. E. The incidence rate of phaeochromocytoma and Conn's syndrome in Denmark, 1977-1981. J Hum Hypertens. 1988 Oct;2(3):187–189. [PubMed] [Google Scholar]
  3. Arias-Stella J., Valcarcel J. Chief cell hyperplasia in the human carotid body at high altitudes; physiologic and pathologic significance. Hum Pathol. 1976 Jul;7(4):361–373. doi: 10.1016/s0046-8177(76)80052-4. [DOI] [PubMed] [Google Scholar]
  4. Astuti D., Douglas F., Lennard T. W., Aligianis I. A., Woodward E. R., Evans D. G., Eng C., Latif F., Maher E. R. Germline SDHD mutation in familial phaeochromocytoma. Lancet. 2001 Apr 14;357(9263):1181–1182. doi: 10.1016/S0140-6736(00)04378-6. [DOI] [PubMed] [Google Scholar]
  5. Astuti D., Latif F., Dallol A., Dahia P. L., Douglas F., George E., Sköldberg F., Husebye E. S., Eng C., Maher E. R. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet. 2001 Jun 12;69(1):49–54. doi: 10.1086/321282. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Badenhop R. F., Cherian S., Lord R. S., Baysal B. E., Taschner P. E., Schofield P. R. Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. Genes Chromosomes Cancer. 2001 Jul;31(3):255–263. doi: 10.1002/gcc.1142. [DOI] [PubMed] [Google Scholar]
  7. Bar M., Friedman E., Jakobovitz O., Leibowitz G., Lerer I., Abeliovich D., Gross D. J. Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes. Clin Endocrinol (Oxf) 1997 Dec;47(6):707–712. doi: 10.1046/j.1365-2265.1997.3251150.x. [DOI] [PubMed] [Google Scholar]
  8. Baysal B. E., Farr J. E., Rubinstein W. S., Galus R. A., Johnson K. A., Aston C. E., Myers E. N., Johnson J. T., Carrau R., Kirkpatrick S. J. Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23. Am J Hum Genet. 1997 Jan;60(1):121–132. [PMC free article] [PubMed] [Google Scholar]
  9. Baysal B. E., Ferrell R. E., Willett-Brozick J. E., Lawrence E. C., Myssiorek D., Bosch A., van der Mey A., Taschner P. E., Rubinstein W. S., Myers E. N. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000 Feb 4;287(5454):848–851. doi: 10.1126/science.287.5454.848. [DOI] [PubMed] [Google Scholar]
  10. Baysal B. E. Genetics of familial paragangliomas: past, present, and future. Otolaryngol Clin North Am. 2001 Oct;34(5):863-79, vi. doi: 10.1016/s0030-6665(05)70352-2. [DOI] [PubMed] [Google Scholar]
  11. Baysal B. E., Rubinstein W. S., Taschner P. E. Phenotypic dichotomy in mitochondrial complex II genetic disorders. J Mol Med (Berl) 2001 Sep;79(9):495–503. doi: 10.1007/s001090100267. [DOI] [PubMed] [Google Scholar]
  12. Baysal B. E., Willett-Brozick J. E., Lawrence E. C., Drovdlic C. M., Savul S. A., McLeod D. R., Yee H. A., Brackmann D. E., Slattery W. H., 3rd, Myers E. N. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet. 2002 Mar;39(3):178–183. doi: 10.1136/jmg.39.3.178. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Baysal B. E., van Schothorst E. M., Farr J. E., Grashof P., Myssiorek D., Rubinstein W. S., Taschner P., Cornelisse C. J., Devlin B., Devilee P. Repositioning the hereditary paraganglioma critical region on chromosome band 11q23. Hum Genet. 1999 Mar;104(3):219–225. doi: 10.1007/s004390050939. [DOI] [PubMed] [Google Scholar]
  14. Beard C. M., Sheps S. G., Kurland L. T., Carney J. A., Lie J. T. Occurrence of pheochromocytoma in Rochester, Minnesota, 1950 through 1979. Mayo Clin Proc. 1983 Dec;58(12):802–804. [PubMed] [Google Scholar]
  15. Beldjord C., Desclaux-Arramond F., Raffin-Sanson M., Corvol J. C., De Keyzer Y., Luton J. P., Plouin P. F., Bertagna X. The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects. J Clin Endocrinol Metab. 1995 Jul;80(7):2063–2068. doi: 10.1210/jcem.80.7.7608256. [DOI] [PubMed] [Google Scholar]
  16. Birch-Machin M. A., Taylor R. W., Cochran B., Ackrell B. A., Turnbull D. M. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Ann Neurol. 2000 Sep;48(3):330–335. [PubMed] [Google Scholar]
  17. Bourgeron T., Rustin P., Chretien D., Birch-Machin M., Bourgeois M., Viegas-Péquignot E., Munnich A., Rötig A. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet. 1995 Oct;11(2):144–149. doi: 10.1038/ng1095-144. [DOI] [PubMed] [Google Scholar]
  18. Brauch H., Hoeppner W., Jähnig H., Wöhl T., Engelhardt D., Spelsberg F., Ritter M. M. Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene. J Clin Endocrinol Metab. 1997 Dec;82(12):4101–4104. doi: 10.1210/jcem.82.12.4454. [DOI] [PubMed] [Google Scholar]
  19. Carney J. A. Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. Mayo Clin Proc. 1999 Jun;74(6):543–552. doi: 10.4065/74.6.543. [DOI] [PubMed] [Google Scholar]
  20. Carney J. Aidan, Stratakis Constantine A. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am J Med Genet. 2002 Mar 1;108(2):132–139. doi: 10.1002/ajmg.10235. [DOI] [PubMed] [Google Scholar]
  21. Crossey P. A., Eng C., Ginalska-Malinowska M., Lennard T. W., Wheeler D. C., Ponder B. A., Maher E. R. Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. J Med Genet. 1995 Nov;32(11):885–886. doi: 10.1136/jmg.32.11.885. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Czyzyk-Krzeska M. F., Furnari B. A., Lawson E. E., Millhorn D. E. Hypoxia increases rate of transcription and stability of tyrosine hydroxylase mRNA in pheochromocytoma (PC12) cells. J Biol Chem. 1994 Jan 7;269(1):760–764. [PubMed] [Google Scholar]
  23. DE GRAEFF J., HORAK B. J. THE INCIDENCE OF PHAEOCHROMOCYTOMA IN THE NETHERLANDS. Acta Med Scand. 1964 Nov;176:583–593. doi: 10.1111/j.0954-6820.1964.tb00661.x. [DOI] [PubMed] [Google Scholar]
  24. DeAngelis L. M., Kelleher M. B., Post K. D., Fetell M. R. Multiple paragangliomas in neurofibromatosis: a new neuroendocrine neoplasia. Neurology. 1987 Jan;37(1):129–133. doi: 10.1212/wnl.37.1.129. [DOI] [PubMed] [Google Scholar]
  25. Drovdlic C. M., Myers E. N., Peters J. A., Baysal B. E., Brackmann D. E., Slattery W. H., 3rd, Rubinstein W. S. Proportion of heritable paraganglioma cases and associated clinical characteristics. Laryngoscope. 2001 Oct;111(10):1822–1827. doi: 10.1097/00005537-200110000-00029. [DOI] [PubMed] [Google Scholar]
  26. Eng C., Crossey P. A., Mulligan L. M., Healey C. S., Houghton C., Prowse A., Chew S. L., Dahia P. L., O'Riordan J. L., Toledo S. P. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet. 1995 Dec;32(12):934–937. doi: 10.1136/jmg.32.12.934. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Erickson D., Kudva Y. C., Ebersold M. J., Thompson G. B., Grant C. S., van Heerden J. A., Young W. F., Jr Benign paragangliomas: clinical presentation and treatment outcomes in 236 patients. J Clin Endocrinol Metab. 2001 Nov;86(11):5210–5216. doi: 10.1210/jcem.86.11.8034. [DOI] [PubMed] [Google Scholar]
  28. Fernández-Calvet L., García-Mayor R. V. Incidence of pheochromocytoma in South Galicia, Spain. J Intern Med. 1994 Dec;236(6):675–677. doi: 10.1111/j.1365-2796.1994.tb00861.x. [DOI] [PubMed] [Google Scholar]
  29. Gimenez-Roqueplo A. P., Favier J., Rustin P., Mourad J. J., Plouin P. F., Corvol P., Rötig A., Jeunemaitre X. 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. Am J Hum Genet. 2001 Oct 16;69(6):1186–1197. doi: 10.1086/324413. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Gimm O., Armanios M., Dziema H., Neumann H. P., Eng C. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res. 2000 Dec 15;60(24):6822–6825. [PubMed] [Google Scholar]
  31. Gross D. J., Avishai N., Meiner V., Filon D., Zbar B., Abeliovich D. Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. J Clin Endocrinol Metab. 1996 Jan;81(1):147–149. doi: 10.1210/jcem.81.1.8550742. [DOI] [PubMed] [Google Scholar]
  32. Grufferman S., Gillman M. W., Pasternak L. R., Peterson C. L., Young W. G., Jr Familial carotid body tumors: case report and epidemiologic review. Cancer. 1980 Nov 1;46(9):2116–2122. doi: 10.1002/1097-0142(19801101)46:9<2116::aid-cncr2820460934>3.0.co;2-s. [DOI] [PubMed] [Google Scholar]
  33. Hartley L., Perry-Keene D. Phaeochromocytoma in Queensland--1970-83. Aust N Z J Surg. 1985 Oct;55(5):471–475. [PubMed] [Google Scholar]
  34. Heutink P., van der Mey A. G., Sandkuijl L. A., van Gils A. P., Bardoel A., Breedveld G. J., van Vliet M., van Ommen G. J., Cornelisse C. J., Oostra B. A. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet. 1992 Apr;1(1):7–10. doi: 10.1093/hmg/1.1.7. [DOI] [PubMed] [Google Scholar]
  35. Hofstra R. M., Stelwagen T., Stulp R. P., de Jong D., Hulsbeek M., Kamsteeg E. J., van den Berg A., Landsvater R. M., Vermey A., Molenaar W. M. Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases. J Clin Endocrinol Metab. 1996 Aug;81(8):2881–2884. doi: 10.1210/jcem.81.8.8768845. [DOI] [PubMed] [Google Scholar]
  36. Hui Angela Bik-Yu, Lo Kwok-Wai, Chan Sylvia Yat-Yee, Kwong Joseph, Chan Andrew Siu-Chung, Huang Dolly P. Absence of SDHD mutations in primary nasopharyngeal carcinomas. Int J Cancer. 2002 Feb 20;97(6):875–877. doi: 10.1002/ijc.10066. [DOI] [PubMed] [Google Scholar]
  37. Hull M. T., Roth L. M., Glover J. L., Walker P. D. Metastatic carotid body paraganglioma in von Hippel-Lindau disease. An electron microscopic study. Arch Pathol Lab Med. 1982 May;106(5):235–239. [PubMed] [Google Scholar]
  38. Inabnet W. B., Caragliano P., Pertsemlidis D. Pheochromocytoma: inherited associations, bilaterality, and cortex preservation. Surgery. 2000 Dec;128(6):1007–1012. doi: 10.1067/msy.2000.110846. [DOI] [PubMed] [Google Scholar]
  39. Jyung R. W., LeClair E. E., Bernat R. A., Kang T. S., Ung F., McKenna M. J., Tuan R. S. Expression of angiogenic growth factors in paragangliomas. Laryngoscope. 2000 Jan;110(1):161–167. doi: 10.1097/00005537-200001000-00029. [DOI] [PubMed] [Google Scholar]
  40. Kennedy D. W., Nager G. T. Glomus tumor and multiple endocrine neoplasia. Otolaryngol Head Neck Surg. 1986 Jun;94(5):644–648. doi: 10.1177/019459988609400621. [DOI] [PubMed] [Google Scholar]
  41. Kytölä Soili, Nord Brita, Elder Elisabeth Edström, Carling Tobias, Kjellman Magnus, Cedermark Björn, Juhlin Claes, Hög Anders, Isola Jorma, Larsson Catharina. Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. Genes Chromosomes Cancer. 2002 Jul;34(3):325–332. doi: 10.1002/gcc.10081. [DOI] [PubMed] [Google Scholar]
  42. Lack E. E., Cubilla A. L., Woodruff J. M., Farr H. W. Paragangliomas of the head and neck region: a clinical study of 69 patients. Cancer. 1977 Feb;39(2):397–409. doi: 10.1002/1097-0142(197702)39:2<397::aid-cncr2820390205>3.0.co;2-c. [DOI] [PubMed] [Google Scholar]
  43. Lahiri S., Rozanov C., Roy A., Storey B., Buerk D. G. Regulation of oxygen sensing in peripheral arterial chemoreceptors. Int J Biochem Cell Biol. 2001 Aug;33(8):755–774. doi: 10.1016/s1357-2725(01)00042-5. [DOI] [PubMed] [Google Scholar]
  44. Lam K. Y., Chan A. C., Wong W. M., Lam K. S. A review of clinicopathologic features of pheochromocytomas in Hong Kong Chinese. Eur J Surg Oncol. 1993 Oct;19(5):421–427. [PubMed] [Google Scholar]
  45. Lindor N. M., Honchel R., Khosla S., Thibodeau S. N. Mutations in the RET protooncogene in sporadic pheochromocytomas. J Clin Endocrinol Metab. 1995 Feb;80(2):627–629. doi: 10.1210/jcem.80.2.7852530. [DOI] [PubMed] [Google Scholar]
  46. MACDONALD R. A. A carotid-body-like tumor on the left subclavian artery. AMA Arch Pathol. 1956 Aug;62(2):107–111. [PubMed] [Google Scholar]
  47. Maier W., Marangos N., Laszig R. Paraganglioma as a systemic syndrome: pitfalls and strategies. J Laryngol Otol. 1999 Nov;113(11):978–982. doi: 10.1017/s0022215100145761. [DOI] [PubMed] [Google Scholar]
  48. Mariman E. C., van Beersum S. E., Cremers C. W., van Baars F. M., Ropers H. H. Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q. Hum Genet. 1993 May;91(4):357–361. doi: 10.1007/BF00217356. [DOI] [PubMed] [Google Scholar]
  49. Masuoka J., Brandner S., Paulus W., Soffer D., Vital A., Chimelli L., Jouvet A., Yonekawa Y., Kleihues P., Ohgaki H. Germline SDHD mutation in paraganglioma of the spinal cord. Oncogene. 2001 Aug 16;20(36):5084–5086. doi: 10.1038/sj.onc.1204579. [DOI] [PubMed] [Google Scholar]
  50. McNeil A. R., Blok B. H., Koelmeyer T. D., Burke M. P., Hilton J. M. Phaeochromocytomas discovered during coronial autopsies in Sydney, Melbourne and Auckland. Aust N Z J Med. 2000 Dec;30(6):648–652. doi: 10.1111/j.1445-5994.2000.tb04358.x. [DOI] [PubMed] [Google Scholar]
  51. Milunsky J. M., Maher T. A., Michels V. V., Milunsky A. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet. 2001 May 15;100(4):311–314. doi: 10.1002/ajmg.1270. [DOI] [PubMed] [Google Scholar]
  52. Moran C. A., Rush W., Mena H. Primary spinal paragangliomas: a clinicopathological and immunohistochemical study of 30 cases. Histopathology. 1997 Aug;31(2):167–173. doi: 10.1046/j.1365-2559.1997.2300841.x. [DOI] [PubMed] [Google Scholar]
  53. Neumann H. P., Berger D. P., Sigmund G., Blum U., Schmidt D., Parmer R. J., Volk B., Kirste G. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. N Engl J Med. 1993 Nov 18;329(21):1531–1538. doi: 10.1056/NEJM199311183292103. [DOI] [PubMed] [Google Scholar]
  54. Neumann Hartmut P. H., Bausch Birke, McWhinney Sarah R., Bender Bernhard U., Gimm Oliver, Franke Gerlind, Schipper Joerg, Klisch Joachim, Altehoefer Carsten, Zerres Klaus. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002 May 9;346(19):1459–1466. doi: 10.1056/NEJMoa020152. [DOI] [PubMed] [Google Scholar]
  55. Niemann S., Becker-Follmann J., Nürnberg G., Rüschendorf F., Sieweke N., Hügens-Penzel M., Traupe H., Wienker T. F., Reis A., Müller U. Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma. Am J Med Genet. 2001 Jan 1;98(1):32–36. [PubMed] [Google Scholar]
  56. Niemann S., Müller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet. 2000 Nov;26(3):268–270. doi: 10.1038/81551. [DOI] [PubMed] [Google Scholar]
  57. Niemann S., Steinberger D., Müller U. PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma. Neurogenetics. 1999 Sep;2(3):167–170. doi: 10.1007/s100480050078. [DOI] [PubMed] [Google Scholar]
  58. Oosterwijk J. C., Jansen J. C., van Schothorst E. M., Oosterhof A. W., Devilee P., Bakker E., Zoeteweij M. W., van der Mey A. G. First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas). J Med Genet. 1996 May;33(5):379–383. doi: 10.1136/jmg.33.5.379. [DOI] [PMC free article] [PubMed] [Google Scholar]
  59. Pacheco-Ojeda L., Durango E., Rodriquez C., Vivar N. Carotid body tumors at high altitudes: Quito, Ecuador, 1987. World J Surg. 1988 Dec;12(6):856–860. doi: 10.1007/BF01655498. [DOI] [PubMed] [Google Scholar]
  60. Parfait B., Chretien D., Rötig A., Marsac C., Munnich A., Rustin P. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet. 2000 Feb;106(2):236–243. doi: 10.1007/s004390051033. [DOI] [PubMed] [Google Scholar]
  61. Ritter M. M., Frilling A., Crossey P. A., Höppner W., Maher E. R., Mulligan L., Ponder B. A., Engelhardt D. Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. J Clin Endocrinol Metab. 1996 Mar;81(3):1035–1037. doi: 10.1210/jcem.81.3.8772572. [DOI] [PubMed] [Google Scholar]
  62. Rodien P., Jeunemaitre X., Dumont C., Beldjord C., Plouin P. F. Genetic alterations of the RET proto-oncogene in familial and sporadic pheochromocytomas. Horm Res. 1997;47(4-6):263–268. doi: 10.1159/000185474. [DOI] [PubMed] [Google Scholar]
  63. Rychkov G. Y., Adams M. B., McMillen I. C., Roberts M. L. Oxygen-sensing mechanisms are present in the chromaffin cells of the sheep adrenal medulla before birth. J Physiol. 1998 Jun 15;509(Pt 3):887–893. doi: 10.1111/j.1469-7793.1998.887bm.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  64. Sabban E. L., Kvetnanský R. Stress-triggered activation of gene expression in catecholaminergic systems: dynamics of transcriptional events. Trends Neurosci. 2001 Feb;24(2):91–98. doi: 10.1016/s0166-2236(00)01687-8. [DOI] [PubMed] [Google Scholar]
  65. Scheffler I. E. Molecular genetics of succinate:quinone oxidoreductase in eukaryotes. Prog Nucleic Acid Res Mol Biol. 1998;60:267–315. doi: 10.1016/s0079-6603(08)60895-8. [DOI] [PubMed] [Google Scholar]
  66. Schimke R. N., Collins D. L., Rothberg P. G. Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. Am J Med Genet. 1998 Dec 28;80(5):533–534. doi: 10.1002/(sici)1096-8628(19981228)80:5<533::aid-ajmg21>3.0.co;2-c. [DOI] [PubMed] [Google Scholar]
  67. Seidler F. J., Slotkin T. A. Adrenomedullary function in the neonatal rat: responses to acute hypoxia. J Physiol. 1985 Jan;358:1–16. doi: 10.1113/jphysiol.1985.sp015536. [DOI] [PMC free article] [PubMed] [Google Scholar]
  68. Stenström G., Svärdsudd K. Pheochromocytoma in Sweden 1958-1981. An analysis of the National Cancer Registry Data. Acta Med Scand. 1986;220(3):225–232. [PubMed] [Google Scholar]
  69. Sutton M. G., Sheps S. G., Lie J. T. Prevalence of clinically unsuspected pheochromocytoma. Review of a 50-year autopsy series. Mayo Clin Proc. 1981 Jun;56(6):354–360. [PubMed] [Google Scholar]
  70. Takaya K., Yoshimasa T., Arai H., Tamura N., Miyamoto Y., Itoh H., Nakao K. The RET proto-oncogene in sporadic pheochromocytomas. Intern Med. 1996 Jun;35(6):449–452. doi: 10.2169/internalmedicine.35.449. [DOI] [PubMed] [Google Scholar]
  71. Takeuchi Y., Mochizuki-Oda N., Yamada H., Kurokawa K., Watanabe Y. Nonneurogenic hypoxia sensitivity in rat adrenal slices. Biochem Biophys Res Commun. 2001 Nov 23;289(1):51–56. doi: 10.1006/bbrc.2001.5913. [DOI] [PubMed] [Google Scholar]
  72. Taschner P. E., Jansen J. C., Baysal B. E., Bosch A., Rosenberg E. H., Bröcker-Vriends A. H., van Der Mey A. G., van Ommen G. J., Cornelisse C. J., Devilee P. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer. 2001 Jul;31(3):274–281. doi: 10.1002/gcc.1144. [DOI] [PubMed] [Google Scholar]
  73. Tian H., Hammer R. E., Matsumoto A. M., Russell D. W., McKnight S. L. The hypoxia-responsive transcription factor EPAS1 is essential for catecholamine homeostasis and protection against heart failure during embryonic development. Genes Dev. 1998 Nov 1;12(21):3320–3324. doi: 10.1101/gad.12.21.3320. [DOI] [PMC free article] [PubMed] [Google Scholar]
  74. Tisherman S. E., Tisherman B. G., Tisherman S. A., Dunmire S., Levey G. S., Mulvihill J. J. Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease? Arch Intern Med. 1993 Nov 22;153(22):2550–2556. [PubMed] [Google Scholar]
  75. Woodward E. R., Eng C., McMahon R., Voutilainen R., Affara N. A., Ponder B. A., Maher E. R. Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. Hum Mol Genet. 1997 Jul;6(7):1051–1056. doi: 10.1093/hmg/6.7.1051. [DOI] [PubMed] [Google Scholar]
  76. Zanelli M., van der Walt J. D. Carotid body paraganglioma in von Hippel-Lindau disease: a rare association. Histopathology. 1996 Aug;29(2):178–181. doi: 10.1046/j.1365-2559.1996.d01-505.x. [DOI] [PubMed] [Google Scholar]
  77. Zedenius J., Wallin G., Hamberger B., Nordenskjöld M., Weber G., Larsson C. Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC:s. Hum Mol Genet. 1994 Aug;3(8):1259–1262. doi: 10.1093/hmg/3.8.1259. [DOI] [PubMed] [Google Scholar]
  78. van Schothorst E. M., Jansen J. C., Grooters E., Prins D. E., Wiersinga J. J., van der Mey A. G., van Ommen G. J., Devilee P., Cornelisse C. J. Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands. Am J Hum Genet. 1998 Aug;63(2):468–473. doi: 10.1086/301951. [DOI] [PMC free article] [PubMed] [Google Scholar]
  79. van der Harst E., de Krijger R. R., Dinjens W. N., Weeks L. E., Bonjer H. J., Bruining H. A., Lamberts S. W., Koper J. W. Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. Int J Cancer. 1998 Jul 29;77(3):337–340. doi: 10.1002/(sici)1097-0215(19980729)77:3<337::aid-ijc5>3.0.co;2-p. [DOI] [PubMed] [Google Scholar]
  80. van der Mey A. G., Maaswinkel-Mooy P. D., Cornelisse C. J., Schmidt P. H., van de Kamp J. J. Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet. 1989 Dec 2;2(8675):1291–1294. doi: 10.1016/s0140-6736(89)91908-9. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES