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Clinical utility gene card for: von Hippel-Lindau (VHL).

作者信息

Decker Jochen, Neuhaus Christine, Macdonald Fiona, Brauch Hiltrud, Maher Eamonn R

机构信息

Clinic III-Hematology and Oncology, Medical School of Johannes Gutenberg University, Mainz, Germany.

Bioscientia, Center for Human Genetics, Ingelheim, Germany.

出版信息

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.180. Epub 2013 Aug 28.

Abstract
摘要

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本文引用的文献

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Genetic testing by cancer site: endocrine system.
Cancer J. 2012 Jul-Aug;18(4):364-71. doi: 10.1097/PPO.0b013e3182609458.
2
Systemic VHL gene functions and the VHL disease.
FEBS Lett. 2012 Jun 4;586(11):1562-9. doi: 10.1016/j.febslet.2012.04.032. Epub 2012 Apr 25.
3
Von Hippel-Lindau: how a rare disease illuminates cancer biology.
Semin Cancer Biol. 2013 Feb;23(1):26-37. doi: 10.1016/j.semcancer.2012.05.005. Epub 2012 May 30.
4
Clinical utility gene card for: familial erythrocytosis.
Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.252. Epub 2012 Jan 25.
5
Complex cellular functions of the von Hippel-Lindau tumor suppressor gene: insights from model organisms.
Oncogene. 2012 May 3;31(18):2247-57. doi: 10.1038/onc.2011.442. Epub 2011 Sep 26.
6
von Hippel-Lindau disease: a clinical and scientific review.
Eur J Hum Genet. 2011 Jun;19(6):617-23. doi: 10.1038/ejhg.2010.175. Epub 2011 Mar 9.
7
Genotype-phenotype correlations in VHL exon deletions.
Am J Med Genet A. 2009 Oct;149A(10):2147-51. doi: 10.1002/ajmg.a.33023.
10
Genotype-phenotype correlations in von Hippel-Lindau disease.
Hum Mutat. 2007 Feb;28(2):143-9. doi: 10.1002/humu.20385.

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