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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1994 | 1 |
1995 | 1 |
1999 | 1 |
2002 | 1 |
2004 | 1 |
2005 | 1 |
2012 | 1 |
2013 | 1 |
2024 | 0 |
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7 results
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Page 1
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
Hum Mutat. 1995;5(1):66-75. doi: 10.1002/humu.1380050109.
Hum Mutat. 1995.
PMID: 7728151
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif F, Lerman MI, Zbar B, Affara NA, Ferguson-Smith MA, et al.
Crossey PA, et al.
Hum Mol Genet. 1994 Aug;3(8):1303-8. doi: 10.1093/hmg/3.8.1303.
Hum Mol Genet. 1994.
PMID: 7987306
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Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
Dandanell M, Friis-Hansen L, Sunde L, Nielsen FC, Hansen TV.
Dandanell M, et al.
BMC Med Genet. 2012 Jul 16;13:54. doi: 10.1186/1471-2350-13-54.
BMC Med Genet. 2012.
PMID: 22799452
Free PMC article.
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Mosaicism in von Hippel-Lindau disease with severe renal manifestations.
Wu P, Zhang N, Wang X, Li T, Ning X, Bu D, Gong K.
Wu P, et al.
Clin Genet. 2013 Dec;84(6):581-4. doi: 10.1111/cge.12092. Epub 2013 Feb 5.
Clin Genet. 2013.
PMID: 23384228
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Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.
Miller F, Kentsis A, Osman R, Pan ZQ.
Miller F, et al.
J Biol Chem. 2005 Mar 4;280(9):7985-96. doi: 10.1074/jbc.M413160200. Epub 2004 Dec 20.
J Biol Chem. 2005.
PMID: 15611064
Free article.
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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.
Gläsker S, et al.
J Neurol Neurosurg Psychiatry. 1999 Dec;67(6):758-62. doi: 10.1136/jnnp.67.6.758.
J Neurol Neurosurg Psychiatry. 1999.
PMID: 10567493
Free PMC article.
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Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
Cybulski C, Krzystolik K, Murgia A, Górski B, Debniak T, Jakubowska A, Martella M, Kurzawski G, Prost M, Kojder I, Limon J, Nowacki P, Sagan L, Białas B, Kałuza J, Zdunek M, Omulecka A, Jaskólski D, Kostyk E, Koraszewska-Matuszewska B, Haus O, Janiszewska H, Pecold K, Starzycka M, Słomski R, Cwirko M, Sikorski A, Gliniewicz B, Cyryłowski L, Fiszer-Maliszewska Ł, Gronwald J, Tołoczko-Grabarek A, Zajaczek S, Lubiński J.
Cybulski C, et al.
J Med Genet. 2002 Jul;39(7):E38. doi: 10.1136/jmg.39.7.e38.
J Med Genet. 2002.
PMID: 12114495
Free PMC article.
No abstract available.
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