Literature DB >> 16874724

The history of von Hippel-Lindau disease.

Daniela Molino1, Joseph Sepe, Pietro Anastasio, Natale G De Santo.   

Abstract

von Hippel-Lindau (vHL) disease is a heritable multisystem cancer syndrome that is associated with a germ line mutation of the vHL tumor suppressor gene on the short arm of chromosome 3. Affected individuals are at risk of developing various benign and malignant tumors of the central nervous system, kidneys, adrenal glands, pancreas, and epididymis. The name of this disease derives from two prestigious European physicians, Eugen von Hippel and Arvid Lindau, but many others played an important part in the description of the disorder. vHL disease has an old and modern history, thanks to the advent of new radiology and molecular biology diagnostic techniques.

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Year:  2006        PMID: 16874724

Source DB:  PubMed          Journal:  J Nephrol        ISSN: 1121-8428            Impact factor:   3.902


  5 in total

Review 1.  An approach to cystic kidney diseases: the clinician's view.

Authors:  Christine E Kurschat; Roman-Ulrich Müller; Mareike Franke; David Maintz; Bernhard Schermer; Thomas Benzing
Journal:  Nat Rev Nephrol       Date:  2014-09-30       Impact factor: 28.314

2.  Primary Renal Paragangliomas and Renal Neoplasia Associated with Pheochromocytoma/Paraganglioma: Analysis of von Hippel-Lindau (VHL), Succinate Dehydrogenase (SDHX) and Transmembrane Protein 127 (TMEM127).

Authors:  Sounak Gupta; Jun Zhang; Dragana Milosevic; John R Mills; Stefan K Grebe; Steven C Smith; Lori A Erickson
Journal:  Endocr Pathol       Date:  2017-09       Impact factor: 3.943

3.  Agents that stabilize mutated von Hippel-Lindau (VHL) protein: results of a high-throughput screen to identify compounds that modulate VHL proteostasis.

Authors:  Zhiyong Ding; Peter German; Shanshan Bai; Zhehui Feng; Meng Gao; Wendy Si; Mary M Sobieski; Clifford C Stephan; Gordon B Mills; Eric Jonasch
Journal:  J Biomol Screen       Date:  2012-02-21

4.  Obstructive jaundice due to von Hippel-Lindau disease-associated pancreatic lesions: A case report.

Authors:  Xiaoyu Liang; Fanguo Hu; Zhicheng Ma; Nan Li; Yan Chen; Jie Zhang
Journal:  Oncol Lett       Date:  2014-04-28       Impact factor: 2.967

5.  Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.

Authors:  Kenan Zhang; Jianhui Qiu; Lin Cai; Kan Gong; Wuping Yang; Kaifang Ma; Lei Li; Haibiao Xie; Yawei Xu; Yanqing Gong; Jingcheng Zhou
Journal:  J Med Genet       Date:  2021-12-16       Impact factor: 5.941

  5 in total

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