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Items: 1 to 20 of 302

1.

VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study.

Pettman RK, Crowley A, Riddell C, Ludman MD.

Mol Diagn Ther. 2006;10(4):239-42.

PMID:
16884327
2.

Genetic study of a large Chinese kindred with von Hippel-Lindau disease.

Huang YR, Zhang J, Wang JD, Fan XD.

Chin Med J (Engl). 2004 Apr;117(4):552-7.

PMID:
15109448
3.

Is the P25L a "real" VHL mutation?

Rothberg PG, Bradley JF, Baker DW, Huelsman KM.

Mol Diagn. 2001 Mar;6(1):49-54.

PMID:
11257211
4.

Von Hippel-Lindau syndrome. A pleomorphic condition.

Friedrich CA.

Cancer. 1999 Dec 1;86(11 Suppl):2478-82. Review.

PMID:
10630173
5.

Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.

Stanojevic BR, Lohse P, Neskovic GG, Damjanovic SM, Novkovic TB, Jovanovic-Cupic SP, Dimitrijević BB.

Neoplasma. 2007;54(5):402-6.

PMID:
17688370
6.

[Familial and genetic study in a large Chinese kindred with von Hippel-Lindau disease and gene mutation analysis].

Zhang J, Huang YR, Wang JD, Fan XD.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):5-9. Chinese.

PMID:
14767899
7.

Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.

Chacon-Camacho OF, Rodriguez-Dennen F, Camacho-Molina A, Rasmussen A, Alonso-Vilatela E, Zenteno JC.

Clin Experiment Ophthalmol. 2010 Apr;38(3):277-83. doi: 10.1111/j.1442-9071.2010.02241.x.

PMID:
20447124
8.

Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.

Zhang J, Huang Y, Pan J, Liu D, Zhou L, Xue W, Chen Q, Dong B, Xuan H.

J Cancer Res Clin Oncol. 2008 Nov;134(11):1211-8. doi: 10.1007/s00432-008-0399-x. Epub 2008 Apr 30.

PMID:
18446368
9.

A variety of phenotype with R161Q germline mutation of the von Hippel-Lindau tumor suppressor gene in Japanese kindred.

Iida K, Okimura Y, Takahashi K, Inomata S, Iguchi G, Kaji H, Chihara K.

Int J Mol Med. 2004 Mar;13(3):401-4.

PMID:
14767570
10.

Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.

Seizinger BR, Smith DI, Filling-Katz MR, Neumann H, Green JS, Choyke PL, Anderson KM, Freiman RN, Klauck SM, Whaley J, et al.

Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2864-8.

11.

Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.

Patocs A, Gergics P, Balogh K, Toth M, Fazakas F, Liko I, Racz K.

BMC Med Genet. 2008 Apr 16;9:29. doi: 10.1186/1471-2350-9-29.

12.

Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management.

Catapano D, Muscarella LA, Guarnieri V, Zelante L, D'Angelo VA, D'Agruma L.

Neurosurgery. 2005 Jun;56(6):1215-21; discussion 1221.

PMID:
15918937
13.
14.

Retinal angiomatosis and von Hippel-Lindau disease.

Kreusel KM, Bechrakis NE, Heinichen T, Neumann L, Neumann HP, Foerster MH.

Graefes Arch Clin Exp Ophthalmol. 2000 Nov;238(11):916-21.

PMID:
11148816
15.

The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

Abbott MA, Nathanson KL, Nightingale S, Maher ER, Greenstein RM.

Am J Med Genet A. 2006 Apr 1;140(7):685-90.

PMID:
16502427
16.

Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents.

Sgambati MT, Stolle C, Choyke PL, Walther MM, Zbar B, Linehan WM, Glenn GM.

Am J Hum Genet. 2000 Jan;66(1):84-91.

17.

Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.

Gergics P, Patocs A, Toth M, Igaz P, Szucs N, Liko I, Fazakas F, Szabo I, Kovacs B, Glaz E, Racz K.

Eur J Endocrinol. 2009 Sep;161(3):495-502. doi: 10.1530/EJE-09-0399. Epub 2009 Jul 2.

18.

A family with von Hippel-Lindau disease revealed by pheochromocytoma.

Tomita N, Moriguchi A, Yamasaki K, Taniyama Y, Kotani N, Hashiya N, Yoshida M, Yao M, Higaki J, Ogihara T.

Hypertens Res. 2001 Jul;24(4):445-50.

19.
20.

[Von Hippel-Lindau disease: recent genetic progress and patient management. Francophone Study Group of von Hippel-Lindau Disease (GEFVH)].

Richard S, Giraud S, Beroud C, Caron J, Penfornis F, Baudin E, Niccoli-Sire P, Murat A, Schlumberger M, Plouin PF, Conte-Devolx B.

Ann Endocrinol (Paris). 1998;59(6):452-8. Review. French.

PMID:
10189987
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