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Items: 1 to 20 of 25

1.

Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL1), in pheochromocytomas.

Aguiar RC, Cox G, Pomeroy SL, Dahia PL.

J Clin Endocrinol Metab. 2001 Jun;86(6):2890-4.

PMID:
11397905
2.

Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

Clifford SC, Cockman ME, Smallwood AC, Mole DR, Woodward ER, Maxwell PH, Ratcliffe PJ, Maher ER.

Hum Mol Genet. 2001 May 1;10(10):1029-38.

PMID:
11331613
3.

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

Hoffman MA, Ohh M, Yang H, Klco JM, Ivan M, Kaelin WG Jr.

Hum Mol Genet. 2001 May 1;10(10):1019-27.

PMID:
11331612
4.

Germline SDHD mutation in familial phaeochromocytoma.

Astuti D, Douglas F, Lennard TW, Aligianis IA, Woodward ER, Evans DG, Eng C, Latif F, Maher ER.

Lancet. 2001 Apr 14;357(9263):1181-2.

PMID:
11323050
5.

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.

6.

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.

7.

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

Niemann S, Müller U.

Nat Genet. 2000 Nov;26(3):268-70.

PMID:
11062460
8.

Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.

Ohh M, Park CW, Ivan M, Hoffman MA, Kim TY, Huang LE, Pavletich N, Chau V, Kaelin WG.

Nat Cell Biol. 2000 Jul;2(7):423-7.

PMID:
10878807
9.

Frequent allelic imbalance suggests involvement of a tumor suppressor gene at 1p36 in the pathogenesis of human lung cancers.

Nomoto S, Haruki N, Tatematsu Y, Konishi H, Mitsudomi T, Takahashi T, Takahashi T.

Genes Chromosomes Cancer. 2000 Jul;28(3):342-6.

PMID:
10862041
10.

Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.

Cockman ME, Masson N, Mole DR, Jaakkola P, Chang GW, Clifford SC, Maher ER, Pugh CW, Ratcliffe PJ, Maxwell PH.

J Biol Chem. 2000 Aug 18;275(33):25733-41.

11.

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

Parfait B, Chretien D, Rötig A, Marsac C, Munnich A, Rustin P.

Hum Genet. 2000 Feb;106(2):236-43.

PMID:
10746566
12.

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B.

Science. 2000 Feb 4;287(5454):848-51.

13.

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.

Maxwell PH, Wiesener MS, Chang GW, Clifford SC, Vaux EC, Cockman ME, Wykoff CC, Pugh CW, Maher ER, Ratcliffe PJ.

Nature. 1999 May 20;399(6733):271-5.

PMID:
10353251
14.

The VHL tumour-suppressor gene paradigm.

Kaelin WG Jr, Maher ER.

Trends Genet. 1998 Oct;14(10):423-6. Review.

PMID:
9820032
15.

Mitochondria and apoptosis.

Green DR, Reed JC.

Science. 1998 Aug 28;281(5381):1309-12. Review.

PMID:
9721092
16.

Mutagenesis, tumorigenicity, and apoptosis: are the mitochondria involved?

Cavalli LR, Liang BC.

Mutat Res. 1998 Feb 26;398(1-2):19-26. Review.

PMID:
9626961
17.

A family with hereditary extra-adrenal paragangliomas without evidence for mutations in the von Hippel-Lindau disease or ret genes.

Sköldberg F, Grimelius L, Woodward ER, Rorsman F, Van Schothorst EW, Winqvist O, Karlsson FA, Akerström G, Kämpe O, Husebye ES.

Clin Endocrinol (Oxf). 1998 Jan;48(1):11-6.

PMID:
9509062
18.

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
19.

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.

Hofstra RM, Stelwagen T, Stulp RP, de Jong D, Hulsbeek M, Kamsteeg EJ, van den Berg A, Landsvater RM, Vermey A, Molenaar WM, Lips CJ, Buys CH.

J Clin Endocrinol Metab. 1996 Aug;81(8):2881-4.

PMID:
8768845
20.

Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

Crossey PA, Eng C, Ginalska-Malinowska M, Lennard TW, Wheeler DC, Ponder BA, Maher ER.

J Med Genet. 1995 Nov;32(11):885-6.

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