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Items: 1 to 20 of 95

1.

Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing.

Cao M, Sun F, Huang X, Dai J, Cui B, Ning G.

Gene. 2013 Sep 10;526(2):164-9. doi: 10.1016/j.gene.2013.04.081. Epub 2013 May 22.

PMID:
23707928
2.

The genomic landscape of phaeochromocytoma.

Flynn A, Benn D, Clifton-Bligh R, Robinson B, Trainer AH, James P, Hogg A, Waldeck K, George J, Li J, Fox SB, Gill AJ, McArthur G, Hicks RJ, Tothill RW.

J Pathol. 2015 May;236(1):78-89. doi: 10.1002/path.4503. Epub 2015 Feb 2.

PMID:
25545346
3.

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

McInerney-Leo AM, Marshall MS, Gardiner B, Benn DE, McFarlane J, Robinson BG, Brown MA, Leo PJ, Clifton-Bligh RJ, Duncan EL.

Clin Endocrinol (Oxf). 2014 Jan;80(1):25-33. doi: 10.1111/cen.12331. Epub 2013 Oct 25.

PMID:
24102379
4.

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER.

Hum Mol Genet. 1997 Jul;6(7):1051-6.

PMID:
9215674
5.

Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations.

Mora J, Cascón A, Robledo M, Catala A.

Pediatr Blood Cancer. 2006 Nov;47(6):785-9.

PMID:
16304664
6.

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

Welander J, Söderkvist P, Gimm O.

Endocr Relat Cancer. 2011 Dec 1;18(6):R253-76. doi: 10.1530/ERC-11-0170. Print 2011 Dec. Review.

7.

Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease.

Neumann HP, Berger DP, Sigmund G, Blum U, Schmidt D, Parmer RJ, Volk B, Kirste G.

N Engl J Med. 1993 Nov 18;329(21):1531-8. Erratum in: N Engl J Med 1994 Dec 1;331(22):1535.

8.

Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.

Juhlin CC, Stenman A, Haglund F, Clark VE, Brown TC, Baranoski J, Bilguvar K, Goh G, Welander J, Svahn F, Rubinstein JC, Caramuta S, Yasuno K, Günel M, Bäckdahl M, Gimm O, Söderkvist P, Prasad ML, Korah R, Lifton RP, Carling T.

Genes Chromosomes Cancer. 2015 Sep;54(9):542-54. doi: 10.1002/gcc.22267. Epub 2015 May 29.

9.

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.

Yan J, Takahashi T, Ohura T, Adachi H, Takahashi I, Ogawa E, Okuda H, Kobayashi H, Hitomi T, Liu W, Harada KH, Koizumi A.

J Hum Genet. 2013 Jun;58(6):366-77. doi: 10.1038/jhg.2013.20. Epub 2013 Mar 28.

PMID:
23535966
10.
11.

Familial pheochromocytoma.

Erlic Z, Neumann HP.

Hormones (Athens). 2009 Jan-Mar;8(1):29-38.

12.

ATRX driver mutation in a composite malignant pheochromocytoma.

Comino-Méndez I, Tejera ÁM, Currás-Freixes M, Remacha L, Gonzalvo P, Tonda R, Letón R, Blasco MA, Robledo M, Cascón A.

Cancer Genet. 2016 Jun;209(6):272-7. doi: 10.1016/j.cancergen.2016.04.058. Epub 2016 Apr 26.

PMID:
27209355
13.

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
14.

Novel pheochromocytoma susceptibility loci identified by integrative genomics.

Dahia PL, Hao K, Rogus J, Colin C, Pujana MA, Ross K, Magoffin D, Aronin N, Cascon A, Hayashida CY, Li C, Toledo SP, Stiles CD; Familial Pheochromocytoma Consortium.

Cancer Res. 2005 Nov 1;65(21):9651-8.

15.

Phaeochromocytomas and sympathetic paragangliomas.

Petri BJ, van Eijck CH, de Herder WW, Wagner A, de Krijger RR.

Br J Surg. 2009 Dec;96(12):1381-92. doi: 10.1002/bjs.6821. Review.

PMID:
19918850
16.

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
17.

Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease.

Frenzel S, Apel TW, Heidemann PH, Zerres K, Neumann HP, Dörr HG.

Eur J Pediatr. 2001 Jul;160(7):421-4.

PMID:
11475579
18.

Hereditary pheochromocytoma and paraganglioma.

Mazzaglia PJ.

J Surg Oncol. 2012 Oct 1;106(5):580-5. doi: 10.1002/jso.23157. Epub 2012 May 30. Review.

PMID:
22648936
19.

Familial pheochromocytomas and paragangliomas: stories from the sign-out room.

Perren A, Komminoth P.

Endocr Pathol. 2006 Winter;17(4):337-44.

PMID:
17525482
20.

Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes.

Bar M, Friedman E, Jakobovitz O, Leibowitz G, Lerer I, Abeliovich D, Gross DJ.

Clin Endocrinol (Oxf). 1997 Dec;47(6):707-12.

PMID:
9497878

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