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Items: 1 to 20 of 314

1.

Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.

Wittström E, Nordling M, Andréasson S.

Ophthalmic Genet. 2014 Jun;35(2):91-106. doi: 10.3109/13816810.2014.886265. Epub 2014 Feb 20.

PMID:
24555745
2.

Genotype-phenotype correlations in VHL exon deletions.

McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F, Maher ER.

Am J Med Genet A. 2009 Oct;149A(10):2147-51. doi: 10.1002/ajmg.a.33023.

PMID:
19764026
3.

PARS PLANA VITRECTOMY IN ADVANCED CASES OF VON HIPPEL-LINDAU EYE DISEASE.

Krzystolik K, Stopa M, Kuprjanowicz L, Drobek-Slowik M, Cybulski C, Jakubowska A, Gronwald J, Lubiński J, Lubiński W.

Retina. 2016 Feb;36(2):325-34. doi: 10.1097/IAE.0000000000000707.

PMID:
26308528
4.

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.

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
6.

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
7.

von Hippel-Lindau syndrome.

Chou A, Toon C, Pickett J, Gill AJ.

Front Horm Res. 2013;41:30-49. doi: 10.1159/000345668. Epub 2013 Mar 19. Review.

PMID:
23652669
8.

Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.

Nielsen SM, Rubinstein WS, Thull DL, Armstrong MJ, Feingold E, Stang MT, Gnarra JR, Carty SE.

Am J Med Genet A. 2011 Jan;155A(1):168-73. doi: 10.1002/ajmg.a.33760.

9.

Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.

Allen RC, Webster AR, Sui R, Brown J, Taylor CM, Stone EM.

Arch Ophthalmol. 2001 Nov;119(11):1659-65.

PMID:
11709017
10.

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.

Hes F, Zewald R, Peeters T, Sijmons R, Links T, Verheij J, Matthijs G, Leguis E, Mortier G, van der Torren K, Rosman M, Lips C, Pearson P, van der Luijt R.

Hum Genet. 2000 Apr;106(4):425-31.

PMID:
10830910
11.

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
12.

Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.

Mettu P, Agrón E, Samtani S, Chew EY, Wong WT.

Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4464-70. doi: 10.1167/iovs.10-5223. Epub 2010 Apr 7.

13.

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.

14.

Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient.

Gonc N, Engiz O, Neumann HP, Demirbilek H, Ozon A, Alikasifoglu A, Kandemir N.

J Pediatr Endocrinol Metab. 2011;24(1-2):109-12.

PMID:
21528828
15.

[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
16.

Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease.

Toy BC, Agrón E, Nigam D, Chew EY, Wong WT.

Ophthalmology. 2012 Dec;119(12):2622-30. doi: 10.1016/j.ophtha.2012.06.026. Epub 2012 Aug 17.

17.

Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease.

Liang X, Shen D, Huang Y, Yin C, Bojanowski CM, Zhuang Z, Chan CC.

Ophthalmology. 2007 Jan;114(1):147-56. Epub 2006 Oct 27.

18.

Genotype-phenotype correlation in von Hippel-Lindau syndrome.

Friedrich CA.

Hum Mol Genet. 2001 Apr;10(7):763-7. Review.

PMID:
11257110
19.

Von Hippel-Lindau syndrome. A pleomorphic condition.

Friedrich CA.

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

PMID:
10630173
20.

The N131S mutation in the von Hippel-Lindau gene in a Japanese family with pheochromocytoma and hemangioblastomas.

Imanaka M, Iida K, Takahashi K, Tsuji K, Nishizawa H, Fukuoka H, Takeno R, Takahashi Y, Okimura Y, Kaji H, Chihara K.

Endocr J. 2006 Dec;53(6):819-27. Epub 2006 Sep 26.

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