Joint meeting of SFE and INSERM, 2002: Paraganglioma and pheochromocytoma;Réunion interface SFE/INSERM 2002: Paragangliomes et phéochromocytomes

Annales d'Endocrinologie

Volumn 64, Issue 5 I, 2003, Pages 396-397

  Gimenez Roqueplo, A P ^a  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARIC ACID; SUCCINATE DEHYDROGENASE; SUCCINIC ACID;

AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 11; CITRIC ACID CYCLE; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE TRANSMISSION; FAMILIAL CANCER; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; HUMAN; MITOCHONDRIAL RESPIRATION; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; PARAGANGLIOMA; PENETRANCE; PHENOTYPE; PHEOCHROMOCYTOMA; PROTO ONCOGENE; SYMPTOM;

EID: 1642528872     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (12)

1. Defraigne JO, Antoine PH, Sakalihasan N et al. Une masse cervicale de diagnostic souvent erroné: le chémodectome carotidien. Rev Med Liege, 1997; 7: 485-497.
2. Somasundar P, Krouse R, Hostetter R et al. Paragangliomas- A decade of clinical experience. J Surg Oncol, 2000; 74: 286-290.
3. Petropoulos AE, Luetje CM, Camarata PJ et al. Genetic analysis in the diagnosis of familial paraganglioma. Laryngoscope, 2000; 110: 1225-1229.
4. Baysal BE, Ferrell RE, Willet-Brozick EC et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science, 2000; 287: 848-851.
5. Niemann S and Müller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nature Genet, 2000; 26: 268-270.
6. Astuti D, Latif F, Dallol A et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma Am J Hum Genet, 2001; 69: 49-54.
7. Milunsky JM, Maher TA, Michels W et al. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet, 2001; 100: 311-314.
8. Gimenez-Roqueplo AP, Rustin P et al. 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; 69: 1186-1197.
9. Gimm O, Armanios M, Dziema H et al. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Research, 2000; 60: 6822-6825.
10. Astuti D, Douglas F, Lennard TWJ et al. Germline SDHD mutation in familial phaechromocytoma. Lancet, 2001; 357: 1181-1182.
11. Gimenez-Roqueplo AP, Favier J, Rustin P et al. Functional consequences of a SDHB mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metabol, 2002; 87: 4771-4774.
12. Neumann HPH, Bausch B, McWhinney SR et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med, 2002; 346: 1459-1466.