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Items: 1 to 20 of 90

1.

Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.

Welander J, Larsson C, Bäckdahl M, Hareni N, Sivlér T, Brauckhoff M, Söderkvist P, Gimm O.

Hum Mol Genet. 2012 Dec 15;21(26):5406-16. doi: 10.1093/hmg/dds402.

PMID:
23010473
2.

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

Burnichon N, Buffet A, Parfait B, Letouzé E, Laurendeau I, Loriot C, Pasmant E, Abermil N, Valeyrie-Allanore L, Bertherat J, Amar L, Vidaud D, Favier J, Gimenez-Roqueplo AP.

Hum Mol Genet. 2012 Dec 15;21(26):5397-405. doi: 10.1093/hmg/dds374.

PMID:
22962301
3.

Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.

Burnichon N, Vescovo L, Amar L, Libé R, de Reynies A, Venisse A, Jouanno E, Laurendeau I, Parfait B, Bertherat J, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP.

Hum Mol Genet. 2011 Oct 15;20(20):3974-85. doi: 10.1093/hmg/ddr324.

PMID:
21784903
4.

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

Welander J, Andreasson A, Juhlin CC, Wiseman RW, Bäckdahl M, Höög A, Larsson C, Gimm O, Söderkvist P.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1352-60. doi: 10.1210/jc.2013-4375.

PMID:
24694336
5.

[Genetics of pheochromocytoma].

Bausch B, Malinoc A, Maruschke L, Offergeld C, Gläsker S, Rischke HC, Brauckhoff M, Boedeker CC, Neumann HP.

Chirurg. 2012 Jun;83(6):511-8. doi: 10.1007/s00104-011-2191-8. Review. German.

PMID:
22481546
6.

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Sköldberg F, Husebye ES, Eng C, Maher ER.

Am J Hum Genet. 2001 Jul;69(1):49-54. Erratum in: Am J Hum Genet 2002 Feb;70(2):565.

7.

Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

Gimm O, Armanios M, Dziema H, Neumann HP, Eng C.

Cancer Res. 2000 Dec 15;60(24):6822-5.

8.

An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.

Gimenez-Roqueplo AP, Dahia PL, Robledo M.

Horm Metab Res. 2012 May;44(5):328-33. doi: 10.1055/s-0031-1301302. Review.

PMID:
22328163
9.

The NF1 gene: a frequent mutational target in sporadic pheochromocytomas and beyond.

Welander J, Söderkvist P, Gimm O.

Endocr Relat Cancer. 2013 Jul 4;20(4):C13-7. doi: 10.1530/ERC-13-0046.

10.

Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.

Pęczkowska M, Kowalska A, Sygut J, Waligórski D, Malinoc A, Janaszek-Sitkowska H, Prejbisz A, Januszewicz A, Neumann HP.

Clin Endocrinol (Oxf). 2013 Dec;79(6):817-23. doi: 10.1111/cen.12218.

PMID:
23551045
11.

Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma.

Weber A, Hoffmann MM, Neumann HP, Erlic Z.

Horm Cancer. 2012 Aug;3(4):187-92. doi: 10.1007/s12672-012-0113-y.

PMID:
22573489
12.

Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes.

Gill AJ, Benn DE, Chou A, Clarkson A, Muljono A, Meyer-Rochow GY, Richardson AL, Sidhu SB, Robinson BG, Clifton-Bligh RJ.

Hum Pathol. 2010 Jun;41(6):805-14. doi: 10.1016/j.humpath.2009.12.005.

PMID:
20236688
13.

Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma.

Welander J, Andreasson A, Brauckhoff M, Bäckdahl M, Larsson C, Gimm O, Söderkvist P.

Endocr Relat Cancer. 2014 Jun;21(3):495-504. doi: 10.1530/ERC-13-0384.

14.

Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma.

Galan SR, Kann PH.

Clin Endocrinol (Oxf). 2013 Feb;78(2):165-75. doi: 10.1111/cen.12071. Review.

PMID:
23061808
15.

The genetic basis of pheochromocytoma.

Gimm O, Koch CA, Januszewicz A, Opocher G, Neumann HP.

Front Horm Res. 2004;31:45-60. Review.

PMID:
14674304
16.

Sporadic and familial pheochromocytomas are associated with loss of at least two discrete intervals on chromosome 1p.

Benn DE, Dwight T, Richardson AL, Delbridge L, Bambach CP, Stowasser M, Gordon RD, Marsh DJ, Robinson BG.

Cancer Res. 2000 Dec 15;60(24):7048-51.

17.

Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

Lefebvre S, Borson-Chazot F, Boutry-Kryza N, Wion N, Schillo F, Peix JL, Brunaud L, Finat A, Calender A, Giraud S.

Horm Metab Res. 2012 May;44(5):334-8. doi: 10.1055/s-0032-1306308.

PMID:
22517554
18.

New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas.

Bertherat J, Gimenez-Roqueplo AP.

Horm Metab Res. 2005 Jun;37(6):384-90. Review.

PMID:
16001332
19.

Long-term prognosis of patients with pediatric pheochromocytoma.

Bausch B, Wellner U, Bausch D, Schiavi F, Barontini M, Sanso G, Walz MK, Peczkowska M, Weryha G, Dall'igna P, Cecchetto G, Bisogno G, Moeller LC, Bockenhauer D, Patocs A, Rácz K, Zabolotnyi D, Yaremchuk S, Dzivite-Krisane I, Castinetti F, Taieb D, Malinoc A, von Dobschuetz E, Roessler J, Schmid KW, Opocher G, Eng C, Neumann HP.

Endocr Relat Cancer. 2013 Dec 16;21(1):17-25. doi: 10.1530/ERC-13-0415.

20.

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

Benn DE, Croxson MS, Tucker K, Bambach CP, Richardson AL, Delbridge L, Pullan PT, Hammond J, Marsh DJ, Robinson BG.

Oncogene. 2003 Mar 6;22(9):1358-64.

PMID:
12618761
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