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Items: 1 to 20 of 209

1.

A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease.

Jia D, Tang B, Shi Y, Wang J, Sun Z, Chen Z, Zhang L, Xia K, Jiang H.

J Clin Neurosci. 2013 Jun;20(6):842-7. doi: 10.1016/j.jocn.2012.06.013. Epub 2013 Apr 28.

PMID:
23632291
2.

De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.

Ding X, Zhang C, Frerich JM, Germanwala A, Yang C, Lonser RR, Mao Y, Zhuang Z, Zhang M.

J Neurosurg. 2014 Aug;121(2):384-386. doi: 10.3171/2014.2.JNS131190. Epub 2014 Mar 28.

3.

Clinical presentation and mutation analysis of VHL disease in a large Chinese family.

Zhang Q, Li DL, Kang P, Ji N, Yang J, Liu WM, Zhang LW, Jia GJ.

J Neurooncol. 2015 Nov;125(2):369-75. doi: 10.1007/s11060-015-1924-9. Epub 2015 Sep 4.

PMID:
26341373
4.

Von Hippel-Lindau syndrome. A pleomorphic condition.

Friedrich CA.

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

PMID:
10630173
5.

Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.

Gomy I, Molfetta GA, de Andrade Barreto E, Ferreira CA, Zanette DL, Casali-da-Rocha JC, Silva WA Jr.

Fam Cancer. 2010 Dec;9(4):635-42. doi: 10.1007/s10689-010-9357-2.

PMID:
20567917
7.

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.

8.

Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation. A combined genetic study, including cytogenetics, PCR/SSCP, FISH, and CGH.

Decker HJ, Neuhaus C, Jauch A, Speicher M, Ried T, Bujard M, Brauch H, Störkel S, Stöckle M, Seliger B, Huber C.

Hum Genet. 1996 Jun;97(6):770-6.

PMID:
8641695
9.

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
10.

[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
11.
12.

Germline mutations in the von Hippel-Lindau gene in Italian patients.

Ciotti P, Garuti A, Gulli R, Ballestrero A, Bellone E, Mandich P.

Eur J Med Genet. 2009 Sep-Oct;52(5):311-4. doi: 10.1016/j.ejmg.2009.05.007. Epub 2009 May 21.

PMID:
19464396
13.

Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas.

Dannenberg H, De Krijger RR, van der Harst E, Abbou M, IJzendoorn Y, Komminoth P, Dinjens WN.

Int J Cancer. 2003 Jun 10;105(2):190-5.

14.

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
15.

Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease.

Hasani-Ranjbar S, Amoli MM, Ebrahim-Habibi A, Haghpanah V, Hejazi M, Soltani A, Larijani B.

Fam Cancer. 2009;8(4):465-71. doi: 10.1007/s10689-009-9266-4. Epub 2009 Aug 1.

PMID:
19649731
16.

Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation.

Zhang M, Wang J, Jiang J, Zhan X, Ling Y, Lu Z, Guo J, Gao X.

Endocrine. 2015 Feb;48(1):83-8. doi: 10.1007/s12020-014-0368-x. Epub 2014 Jul 29.

PMID:
25069792
17.

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
18.

Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.

Whaley JM, Naglich J, Gelbert L, Hsia YE, Lamiell JM, Green JS, Collins D, Neumann HP, Laidlaw J, Li FP, et al.

Am J Hum Genet. 1994 Dec;55(6):1092-102. Erratum in: Am J Hum Genet 1995 Jan;56(1):356.

19.

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.

20.

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

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