Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene-Reference-Cited by-同舟云学术

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Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene

Published:2017-09-13 Issue:2 Volume:128 Page:117-124
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Glushkova Maria¹²,Dimova Petia³,Yordanova Iglika²,Todorov Tihomir²,Tourtourikov Ivan²,Mitev Vanyo¹,Todorova Albena¹²

Affiliation:

1. Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria

2. Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria

3. Epilepsy Center, Department of Neurosurgery, University Hospital ‘St. Ivan Rilski’, Sofia, Bulgaria

Funder

Medical University Sofia

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2017.1372436

Reference39 articles.

1. ALS-008176 for Respiratory Syncytial Virus Infection

2. Clinical Features and Natural History of von Hippel-Lindau Disease

3. Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Congenital Anomalies;Ocular Pathology;2025

2. The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis;BMC Ophthalmology;2024-08-13

3. A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?;Molecular Genetics and Genomics;2022-08-25

4. Pheochromocytomas and paragangliomas in von Hippel–Lindau disease: not a needle in a haystack;Endocrine Connections;2021-11-01

5. Congenital Anomalies;Ocular Pathology;2020

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