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Items: 1 to 20 of 25

1.
Genotype-Phenotype Correlation in von-Hippel-Lindau Disease with Retinal Angiomatosis
Wai T. Wong, Elvira Agrón, Hanna R. Coleman, George F. Reed, Karl Csaky, James Peterson, Gladys Glenn, W. Marston Linehan, Paul Albert, Emily Y. Chew
Arch Ophthalmol. Author manuscript; available in PMC 2011 Jan 11.
Published in final edited form as: Arch Ophthalmol. 2007 Feb; 125(2): 239–245. doi: 10.1001/archopht.125.2.239
PMCID:
PMC3019103
ArticlePDF–111K
2.
Molecular Pathology and CXCR4 Expression in Surgically Excised Retinal Hemangioblastomas Associated with von Hippel-Lindau Disease
Xiaoling Liang, Defen Shen, Yongsheng Huang, Chunyue Yin, Christine M. Bojanowski, Zhengping Zhuang, Chi-Chao Chan
Ophthalmology. Author manuscript; available in PMC 2007 Dec 19.
Published in final edited form as: Ophthalmology. 2007 Jan; 114(1): 147–156. Published online 2006 Oct 27. doi: 10.1016/j.ophtha.2006.05.068
PMCID:
PMC2147685
ArticlePDF–1.4M
3.
Von Hippel-Lindau's disease: a report of five cases.
Y. M. Rho
Can Med Assoc J. 1969 Aug 9; 101(3): 135–142.
PMCID:
PMC1946200
SummaryPage BrowsePDF–3.3M
4.
von Hippel-Lindau's disease and phaeochromocytoma.
K S Wise, J A Gibson
Br Med J. 1971 Feb 20; 1(5746): 441. doi: 10.1136/bmj.1.5746.441
PMCID:
PMC1795092
SummaryPage BrowsePDF–240K
5.
Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter
M Zatyka, C Morrissey, I Kuzmin, M Lerman, F Latif, F Richards, E Maher
J Med Genet. 2002 Jul; 39(7): 463–472. doi: 10.1136/jmg.39.7.463
PMCID:
PMC1735189
SummaryPDF–427K
6.
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only
F Hes, S McKee, M Taphoorn, P Rehal, R B van der Luijt, R McMahon, J J van der Smagt, D Dow, R Zewald, J Whittaker, C Lips, F MacDonald, P Pearson, E Maher
J Med Genet. 2000 Dec; 37(12): 939–943. doi: 10.1136/jmg.37.12.939
PMCID:
PMC1734505
SummaryPDF–141K
7.
Risk of multisystem disease in isolated ocular angioma (haemangioblastoma)
A. WEBSTER, E. MAHER, A. BIRD, A. MOORE
J Med Genet. 2000 Jan; 37(1): 62–63. doi: 10.1136/jmg.37.1.62
Correction in:
J Med Genet. 2000 May; 37(5): 399.
PMCID:
PMC1734450
SummaryPDF–139K
8.
Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
A H Prowse, A R Webster, F M Richards, S Richard, S Olschwang, F Resche, N A Affara, E R Maher
Am J Hum Genet. 1997 Apr; 60(4): 765–771.
PMCID:
PMC1712486
SummaryPage BrowsePDF–1.3M
9.
Aberrant methylation in cancer.
R Versteeg
Am J Hum Genet. 1997 Apr; 60(4): 751–754.
PMCID:
PMC1712460
SummaryPage BrowsePDF–671K
10.
Segregation and linkage analyses of von Hippel Lindau disease among 220 descendants from one kindred.
R C Go, J M Lamiell, Y E Hsia, J W Yuen, Y Paik
Am J Hum Genet. 1984 Jan; 36(1): 131–142.
PMCID:
PMC1684404
SummaryPage BrowsePDF–865K
11.
Von Hippel-Lindau disease in a Newfoundland kindred.
J S Green, M I Bowmer, G J Johnson
CMAJ. 1986 Jan 15; 134(2): 133-8, 146.
PMCID:
PMC1490656
SummaryPage BrowsePDF–2.4M
12.
Von Hippel-Lindau syndrome: a report on three kindreds.
M H Shokeir
J Med Genet. 1970 Jun; 7(2): 155–157. doi: 10.1136/jmg.7.2.155
PMCID:
PMC1468818
SummaryPage BrowsePDF–315K
13.
OCULAR MANIFESTATIONS OF VON HIPPEL–LINDAU DISEASE: CLINICAL AND GENETIC INVESTIGATIONS
Emily Ying Chew
Trans Am Ophthalmol Soc. 2005 Dec; 103: 495–511.
PMCID:
PMC1447586
ArticlePDF–793K
14.
An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects.
A R Webster, F M Richards, F E MacRonald, A T Moore, E R Maher
Am J Hum Genet. 1998 Oct; 63(4): 1025–1035. doi: 10.1086/302037
PMCID:
PMC1377470
SummaryPDF–531K
15.
Hemangiomas of Cerebellum and Retina (Lindau's Disease): With the Report of a Case
Harvey Cushing, Percival Bailey
Trans Am Ophthalmol Soc. 1928; 26: 182–202.
PMCID:
PMC1316688
SummaryPage BrowsePDF–6.6M
16.
Mosaicism in von Hippel–Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic Parents
M. T. Sgambati, C. Stolle, P. L. Choyke, M. M. Walther, B. Zbar, W. M. Linehan, G. M. Glenn
Am J Hum Genet. 2000 Jan; 66(1): 84–91. Published online 1999 Dec 20. doi: 10.1086/302726
PMCID:
PMC1288351
ArticlePDF–1.0M
17.
A genetic register for von Hippel-Lindau disease.
I R Maddock, A Moran, E R Maher, M D Teare, A Norman, S J Payne, R Whitehouse, C Dodd, M Lavin, N Hartley, M Super, D G Evans
J Med Genet. 1996 Feb; 33(2): 120–127. doi: 10.1136/jmg.33.2.120
PMCID:
PMC1051837
SummaryPage BrowsePDF–1.4M
18.
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
F Chen, L Slife, T Kishida, J Mulvihill, S E Tisherman, B Zbar
J Med Genet. 1996 Aug; 33(8): 716–717. doi: 10.1136/jmg.33.8.716
PMCID:
PMC1050712
SummaryPage BrowsePDF–383K
19.
Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.
E R Maher, J R Yates, M A Ferguson-Smith
J Med Genet. 1990 May; 27(5): 311–314. doi: 10.1136/jmg.27.5.311
PMCID:
PMC1017082
SummaryPage BrowsePDF–572K
20.
Von Hippel-Lindau disease: a genetic study.
E R Maher, L Iselius, J R Yates, M Littler, C Benjamin, R Harris, J Sampson, A Williams, M A Ferguson-Smith, N Morton
J Med Genet. 1991 Jul; 28(7): 443–447. doi: 10.1136/jmg.28.7.443
PMCID:
PMC1016952
SummaryPage BrowsePDF–808K

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