Zobrazeno 1 - 10
of 790
pro vyhledávání: '"vhl gene"'
Autor:
Antonio Alejandro Esperón Álvarez, Inés Virginia Noa Hechavarría, Ixchel López Reyes, Teresa Collazo Mesa
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-6 (2024)
Abstract Background Von Hippel-Lindau (VHL) syndrome is an autosomal dominantly inherited disorder that predisposes to multiple neoplasms. Patients may develop hemangioblastomas of the central nervous system and retina, multiple cysts in the pancreas
Externí odkaz:
https://doaj.org/article/e7c46c747fb44a9d834bb6caef3cb0ae
Publikováno v:
Biotechnology & Biotechnological Equipment, Vol 37, Iss 1, Pp 42-48 (2023)
AbstractPublicly available genome-wide data, sequenced from 2730 ancient human samples were analyzed for genetic predisposition to malignancy. The temporal and spatial incidence of risk variants for cancer diseases in ancient genomes was recorded, al
Externí odkaz:
https://doaj.org/article/21e5be0b92d14c0d9ea4cc620da58400
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
BackgroundVon-Hipple Lindau syndrome is an uncommon autosomal dominant disorder. 17 years ago we diagnosed a young woman with VHL syndrome validated by Sanger sequencing, her family members were genetically tested as well, and 187 healthy people were
Externí odkaz:
https://doaj.org/article/1188ff665bfe4efa9e1fedd3190e3fc9
Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-7 (2022)
Abstract Background Central Retinal Vein Occlusion (CRVO) is a rare complication of von Hipple-Lindau (VHL) disease. This report presents the first case of VHL disease complicated with CRVO caused by VHL c.208G > A mutation. Case presentation A 20 s
Externí odkaz:
https://doaj.org/article/022cd252c1324a6bba6306a96c768199
Publikováno v:
JK Science, Vol 25, Iss 3 (2023)
Von Hippel-Lindau syndrome is a rare hereditary multisystemic tumour predisposition disorder, caused by a mutation in the VHL gene. The incidence is 1 in 39,000 individuals. Here we report a case of a 20-yearold male patient who presented with compla
Externí odkaz:
https://doaj.org/article/19b999f70221412bbce3da639f9137a0
Akademický článek
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Publikováno v:
Медицинская иммунология, Vol 22, Iss 5, Pp 943-956 (2020)
Pathogenesis of retinal capillary hemangioma has not been sufficiently studied at the present time. Therefore, the study of cytokine levels in biological fluids seems to be very relevant in order to increase knowledge about the mechanisms of the dise
Externí odkaz:
https://doaj.org/article/f123eff217614662834c83b721d64ed4
Publikováno v:
Jichu yixue yu linchuang, Vol 40, Iss 11, Pp 1489-1493 (2020)
Objective This is a case report of family with VHL disease caused by a rare synonymous mutation of VHL gene and then the frequency of the mutation in pheochromocytoma/paraganglioma (PPGL) was investigated. Methods Genomic DNA was extracted from the p
Externí odkaz:
https://doaj.org/article/b5a9a17c9b82405ebab35cdbad1fe3d3
Autor:
Jungyo Suh, Chang Wook Jeong, Seongmin Choi, Ja Hyeon Ku, Hyeon Hoe Kim, Kwangsoo Kim, Cheol Kwak
Publikováno v:
BMC Urology, Vol 20, Iss 1, Pp 1-9 (2020)
Abstract Background This study aimed to assess the feasibility of a pan-cancer panel assay for high-risk renal cell carcinoma (RCC) in the Korean population. We also analyzed the clinical and genetic factors contributing to metastasis in clear cell R
Externí odkaz:
https://doaj.org/article/b6574e120b5344b7b3b80acd4292de71
Autor:
Diane R. Koeller, Danielle K. Manning, Alison Schwartz, Anu Chittenden, Connor P. Hayes, Feruza Abraamyan, Huma Q. Rana, Neal I. Lindeman, Judy E. Garber, Arezou A. Ghazani
Publikováno v:
MethodsX, Vol 9, Iss , Pp 101761- (2022)
The interpretation of hereditary genetic sequencing variants is often limited due to the absence of functional data and other key evidence to assess the role of variants in disease. Cancer genetics is unique, as two sets of genomic information are of
Externí odkaz:
https://doaj.org/article/87e8e139773c4bc2a908d6f6e6aedd90