Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation-Reference-Cited by-同舟云学术

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Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation

Published:2014-07-29 Issue:1 Volume:48 Page:83-88
ISSN:1355-008X
Container-title:Endocrine
language:en
Short-container-title:Endocrine

Author:

Zhang Min,Wang Jie,Jiang Jingjing,Zhan Xiaohui,Ling Yan,Lu Zhiqiang,Guo Jianming,Gao Xin

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1007/s12020-014-0368-x.pdf

Reference30 articles.

1. F. Latif, K. Tory, J. Gnarra, M. Yao, F.M. Duh, M.L. Orcutt, T. Stackhouse, I. Kuzmin, W. Modi, L. Geil et al., Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260, 1317–1320 (1993)

2. R.R. Lonser, G.M. Glenn, M. Walther, E.Y. Chew, S.K. Libutti, W.M. LinehanE, H. Oldfield, Von Hippel-Lindau disease. Lancet 361, 2059–2067 (2003)

3. T. Mete, D. Berker, E. Yilmaz, G. Ozgen, Y. Yalcin, M. Tuna, D. Ciliz, M. Onen, Y. AydinS, S. Guler, Clinical presentation of von Hippel Lindau syndrome type 2B associated with VHL p. A149S mutation in a large Turkish family. Endocrine 45, 128–135 (2014)

4. B. Zbar, T. Kishida, F. Chen, L. Schmidt, E.R. Maher, F.M. Richards, P.A. Crossey, A.R. Webster, N.A. Affara, M.A. Ferguson-Smith, H. Brauch, D. Glavac, H.P. Neumann, S. Tisherman, J.J. Mulvihill, D.J. Gross, T. Shuin, J. Whaley, B. Seizinger, N. Kley, S. Olschwang, C. Boisson, S. Richard, C.H. Lips, M. Lerman et al., Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum. Mutat. 8, 348–357 (1996)

5. A. Porollo, J. Meller, Versatile annotation and publication quality visualization of protein complexes using POLYVIEW-3D. BMC Bioinform. 8, 316 (2007)

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1. Saturation genome editing maps the functional spectrum of pathogenic VHL alleles;Nature Genetics;2024-07

2. Saturation Genome Editing Resolves the Functional Spectrum of PathogenicVHLAlleles;2023-06-10

3. VHL syndrome without clear family history: A rare case report and literature review of Chinese patients;Frontiers in Neurology;2022-10-17

4. Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene;International Journal of Neuroscience;2017-09-13

5. VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel–Lindau Disease;Genetic Testing and Molecular Biomarkers;2016-12

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