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Items: 1 to 20 of 162

1.

Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease.

Chen J, Geng W, Zhao Y, Zhao H, Wang G, Huang F, Liu F, Geng X.

Clin Transl Oncol. 2013 May;15(5):391-7. doi: 10.1007/s12094-012-0940-x. Epub 2012 Nov 10.

PMID:
23143947
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.

Familial and genetic researches on three Chinese families with von Hippel-Lindau disease.

Mao XC, Su ZP, Yu WQ, Zheng WM, Zeng YJ.

Neurol Res. 2009 Sep;31(7):743-7. doi: 10.1179/174313209X382421. Epub 2009 Jan 7.

PMID:
19133167
4.

[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
5.

A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma.

Fu XM, Zhao SL, Gui JC, Jiang YQ, Shen MN, Su DL, Gu BJ, Wang XQ, Ren QJ, Yin XD, Huang WB, Chen XG.

Genet Mol Res. 2015 May 4;14(2):4513-20. doi: 10.4238/2015.May.4.9.

6.

VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.

Mathó C, Sansó G, Diez B, Barontini M, Pennisi PA.

Genet Test Mol Biomarkers. 2016 Dec;20(12):771-776. doi: 10.1089/gtmb.2016.0204. Epub 2016 Sep 12.

PMID:
27617348
7.

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
8.

[Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome].

Zhang J, Chen HG, Xue W, Zhou LX, Huang YR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):539-41. doi: 10.3760/cma.j.issn.1003-9406.2009.05.014. Chinese.

PMID:
19806577
9.

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.

10.

Molecular basis of von Hippel-Lindau syndrome in Chinese patients.

Siu WK, Ma RC, Lam CW, Mak CM, Yuen YP, Lo FM, Chan KW, Lam SF, Ling SC, Tong SF, So WY, Chow CC, Tang MH, Tam WH, Chan AY.

Chin Med J (Engl). 2011 Jan;124(2):237-41.

PMID:
21362373
11.

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.

Lee JS, Lee JH, Lee KE, Kim JH, Hong JM, Ra EK, Seo SH, Lee SJ, Kim MJ, Park SS, Seong MW.

BMC Med Genet. 2016 Jul 20;17(1):48. doi: 10.1186/s12881-016-0306-2.

12.

Von Hippel-Lindau syndrome. A pleomorphic condition.

Friedrich CA.

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

PMID:
10630173
13.

Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma.

Rasmussen A, Nava-Salazar S, Yescas P, Alonso E, Revuelta R, Ortiz I, Canizales-Quinteros S, Tusié-Luna MT, López-López M.

J Neurosurg. 2006 Mar;104(3):389-94.

PMID:
16572651
14.

The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.

Gläsker S, Bender BU, Apel TW, Natt E, van Velthoven V, Scheremet R, Zentner J, Neumann HP.

J Neurol Neurosurg Psychiatry. 1999 Dec;67(6):758-62.

15.

Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.

Zhang J, Ma J, Du X, Wu D, Ai H, Bai J, Dong S, Yang Q, Qu K, Lyu Y, Valenzuela RK, Liu C.

Chin Med J (Engl). 2015 Jan 5;128(1):32-8. doi: 10.4103/0366-6999.147802.

16.

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
17.

Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease.

Huang Y, Zhou D, Liu J, Zhou P, Li X, Wang Z.

Int J Mol Med. 2012 Jan;29(1):47-52. doi: 10.3892/ijmm.2011.808. Epub 2011 Oct 4.

PMID:
21972040
18.

Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.

Wu P, Zhang N, Wang X, Ning X, Li T, Bu D, Gong K.

J Hum Genet. 2012 Apr;57(4):238-43. doi: 10.1038/jhg.2012.10. Epub 2012 Feb 23.

PMID:
22357542
19.

[Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene].

Su Y, Shen WD, Wang CC, Han WJ, Liu J, Hou ZH, Song ZG, Huang DL, Han DY, Yang SM.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2013 Nov;48(11):913-8. Chinese.

PMID:
24444636
20.

Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.

Vikkath N, Valiyaveedan S, Nampoothiri S, Radhakrishnan N, Pillai GS, Nair V, Pooleri GK, Mathew G, Menon KN, Ariyannur PS, Pillai AB.

Fam Cancer. 2015 Dec;14(4):585-94. doi: 10.1007/s10689-015-9806-z.

PMID:
25952756

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