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Volumn 129, Issue 6, 2012, Pages 315-318

The genetics of paragangliomas

Author keywords

Genetics; Paraganglioma; SDHB; SDHC; SDHD; VHL

Indexed keywords

ARTICLE; DISEASE SURVEILLANCE; FAMILIAL CANCER; FAMILY HISTORY; GENE MUTATION; GENETIC SCREENING; GERM LINE; HIGH RISK PATIENT; HUMAN; PARAGANGLIOMA; PRIORITY JOURNAL; PROGNOSIS;

EID: 84870293235     PISSN: 18797296     EISSN: 1879730X     Source Type: Journal    
DOI: 10.1016/j.anorl.2012.04.007     Document Type: Short Survey
Times cited : (35)

References (21)
  • 1
    • 0029986560 scopus 로고    scopus 로고
    • First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumors (paragangliomas)
    • J.C. Oosterwijk, J.C. Jansen, and E.M. van Schothorst First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumors (paragangliomas) J Med Genet 33 1996 379 383
    • (1996) J Med Genet , vol.33 , pp. 379-383
    • Oosterwijk, J.C.1    Jansen, J.C.2    Van Schothorst, E.M.3
  • 2
    • 18344381765 scopus 로고    scopus 로고
    • Prevalence of SDHB, SDHC and SDHD germline mutations in clinic sujets with head and neck paragangliomas
    • B.E. Baysal, J.E. Willett-Brozick, and E.C. Lawrence Prevalence of SDHB, SDHC and SDHD germline mutations in clinic sujets with head and neck paragangliomas J Med Genet 39 2002 178 183
    • (2002) J Med Genet , vol.39 , pp. 178-183
    • Baysal, B.E.1    Willett-Brozick, J.E.2    Lawrence, E.C.3
  • 3
    • 67650501167 scopus 로고    scopus 로고
    • Clinical aspects of SDHx-related pheochromocytoma and paraganglioma
    • H.J. Timmers, A.P. Gimenez-Roqueplo, and M. Mannelli Clinical aspects of SDHx-related pheochromocytoma and paraganglioma Endocr Relat Cancer 16 2009 391 400
    • (2009) Endocr Relat Cancer , vol.16 , pp. 391-400
    • Timmers, H.J.1    Gimenez-Roqueplo, A.P.2    Mannelli, M.3
  • 4
    • 0032961905 scopus 로고    scopus 로고
    • Repositioning the hereditary paraganglioma critical region on chromosome band 11q23
    • B.E. Baysal, E.M. van Schothorst, and J.E. Farr Repositioning the hereditary paraganglioma critical region on chromosome band 11q23 Hum Genet 104 1999 219 225
    • (1999) Hum Genet , vol.104 , pp. 219-225
    • Baysal, B.E.1    Van Schothorst, E.M.2    Farr, J.E.3
  • 5
    • 0028809123 scopus 로고
    • Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: Evidence for genetic heterogeneity
    • E.C. Mariman, S.E. van Beersum, and C.W. Cremers Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity Hum Genet 95 1995 56 62
    • (1995) Hum Genet , vol.95 , pp. 56-62
    • Mariman, E.C.1    Van Beersum, S.E.2    Cremers, C.W.3
  • 6
    • 0035155268 scopus 로고    scopus 로고
    • Assignement to PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma
    • S. Niemann, J. Becker-Follmann, and G. Nürnberg Assignement to PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma Am J Med Gen 98 2001 32 36
    • (2001) Am J Med Gen , vol.98 , pp. 32-36
    • Niemann, S.1    Becker-Follmann, J.2    Nürnberg, G.3
  • 7
    • 0034964421 scopus 로고    scopus 로고
    • Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
    • D. Astuti, F. Latif, and A. Dallol Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma Am J Hum Genet 69 2001 49 54
    • (2001) Am J Hum Genet , vol.69 , pp. 49-54
    • Astuti, D.1    Latif, F.2    Dallol, A.3
  • 8
    • 0034602950 scopus 로고    scopus 로고
    • Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
    • B.E. Baysal, R.E. Ferrell, and J.E. Willett-Brozick Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma Science 287 2000 848 851
    • (2000) Science , vol.287 , pp. 848-851
    • Baysal, B.E.1    Ferrell, R.E.2    Willett-Brozick, J.E.3
  • 9
    • 69549088424 scopus 로고    scopus 로고
    • SDH5, a gene required for flavination of succinate dehydrogenase is mutated in paraganglioma
    • H.X. Hao, O. Khalimonchuk, and M. Schraders SDH5, a gene required for flavination of succinate dehydrogenase is mutated in paraganglioma Science 325 2009 1139 1142
    • (2009) Science , vol.325 , pp. 1139-1142
    • Hao, H.X.1    Khalimonchuk, O.2    Schraders, M.3
  • 10
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in SDHC cause autosomal dominant paraganglioma type 3
    • S. Niemann, and U. Müller Mutations in SDHC cause autosomal dominant paraganglioma type 3 Nat Genet 26 2000 268 270
    • (2000) Nat Genet , vol.26 , pp. 268-270
    • Niemann, S.1    Müller, U.2
  • 11
    • 0024404822 scopus 로고
    • Genomic imprinting in hereditary glomus tumors: Evidence for new genetic theory
    • A.G. Van Der Mey, P.D. Maaswinkel-Mooy, and C.J. Cornelisse Genomic imprinting in hereditary glomus tumors: evidence for new genetic theory Lancet 2 1989 1291 1294
    • (1989) Lancet , vol.2 , pp. 1291-1294
    • Van Der Mey, A.G.1    Maaswinkel-Mooy, P.D.2    Cornelisse, C.J.3
  • 12
    • 77950342008 scopus 로고    scopus 로고
    • SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
    • J.P. Bayley, H.P. Kunst, and A. Cascon SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma Lancet Oncol 11 2010 366 372
    • (2010) Lancet Oncol , vol.11 , pp. 366-372
    • Bayley, J.P.1    Kunst, H.P.2    Cascon, A.3
  • 13
    • 77958164441 scopus 로고    scopus 로고
    • SDHA is a tumor suppressor gene causing paraganglioma
    • N. Burnichon, J.J. Brière, and R. Libé SDHA is a tumor suppressor gene causing paraganglioma Hum Mol Genet 19 2010 3011 3020
    • (2010) Hum Mol Genet , vol.19 , pp. 3011-3020
    • Burnichon, N.1    Brière, J.J.2    Libé, R.3
  • 14
    • 80052540617 scopus 로고    scopus 로고
    • SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas
    • [Epub ahead of print]
    • E. Korpershoek, J. Favier, and J. Gaal SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas J Clin Endocrinol Metab 2011 [Epub ahead of print]
    • (2011) J Clin Endocrinol Metab
    • Korpershoek, E.1    Favier, J.2    Gaal, J.3
  • 15
    • 66749179952 scopus 로고    scopus 로고
    • Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
    • C.C. Boedeker, Z. Erlic, and S. Richard Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2 J Clin Endocrinol Metab. 94 2009 1938 1944
    • (2009) J Clin Endocrinol Metab. , vol.94 , pp. 1938-1944
    • Boedeker, C.C.1    Erlic, Z.2    Richard, S.3
  • 17
    • 29144484161 scopus 로고    scopus 로고
    • Mutation database: An online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency
    • J.P. Bayley, P. Devilee, and P.E. Taschner mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency BMC Med Genet 6 2005 39
    • (2005) BMC Med Genet , vol.6 , pp. 39
    • Bayley, J.P.1    Devilee, P.2    Taschner, P.E.3
  • 18
    • 68549092478 scopus 로고    scopus 로고
    • The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
    • N. Burnichon, V. Rohmer, and L. Amar The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas J Clin Endocrinol Metab. 94 2009 2817 2827
    • (2009) J Clin Endocrinol Metab. , vol.94 , pp. 2817-2827
    • Burnichon, N.1    Rohmer, V.2    Amar, L.3
  • 19
    • 33644834491 scopus 로고    scopus 로고
    • Genetic testing in pheochromocytoma and functional paraganglioma
    • L. Amar, J. Bertherat, and E. Baudin Genetic testing in pheochromocytoma and functional paraganglioma J Clin Oncol 23 2005 8812 8818
    • (2005) J Clin Oncol , vol.23 , pp. 8812-8818
    • Amar, L.1    Bertherat, J.2    Baudin, E.3
  • 20
    • 35348989206 scopus 로고    scopus 로고
    • Succinate dehydrogenase B gene mutations predict survival in sujets with malignant pheochromocytomas or paragangliomas
    • L. Amar, E. Baudin, and N. Burnichon Succinate dehydrogenase B gene mutations predict survival in sujets with malignant pheochromocytomas or paragangliomas J Clin Endocrinol Metab 92 2007 3822 3828
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 3822-3828
    • Amar, L.1    Baudin, E.2    Burnichon, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.