Zobrazeno 1 - 10
of 101
pro vyhledávání: '"VHL Gene Mutation"'
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
Akademický článek
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Publikováno v:
Clinical Nuclear Medicine. 46:829-831
Von Hippel-Lindau (VHL) is a rare predominantly hereditary syndrome characterized by multiple benign and malignant tumors that can affect different organ systems. We present representative images of a 68Ga-DOTATATE PET/CT in a patient with confirmed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a5d898ee128f32e951d9c7260b8a37e
https://doi.org/10.1097/rlu.0000000000003693
https://doi.org/10.1097/rlu.0000000000003693
Autor:
Erzsébet Rásó, Zoltán Sápi, Béla Iványi, Janina Kulka, Levente Kuthi, Brigitta Vrabély, Alex Jenei, Zoltán Bajory, Tamás Micsik, Áron Somorácz, Adrienn Hajdu
Publikováno v:
Pathology Oncology Research
Thirty-one cases of low-grade renal cell carcinoma (RCC) with clear cells and tubulopapillary/papillary architecture were analyzed retrospectively with immunohistochemical and genetic markers to gain more experience with the differential diagnosis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78509a2289d979615ed16a476d5bb01f
https://doi.org/10.1007/s12253-019-00757-3
https://doi.org/10.1007/s12253-019-00757-3
Autor:
Zhongqiu Wang, Dong Liang, Zhicheng Li, Guangyu Wu, Jinheng Zhang, Hairong Zheng, Guiqin Liu, Guangtao Zhai
Publikováno v:
European Radiology. 29:3996-4007
To develop a radiomics model with all-relevant imaging features from multiphasic computed tomography (CT) for differentiating clear cell renal cell carcinoma (ccRCC) from non-ccRCC and to investigate the possible radiogenomics link between the imagin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208248c5f38050f9a3af0117a48be198
https://doi.org/10.1007/s00330-018-5872-6
https://doi.org/10.1007/s00330-018-5872-6
Autor:
Gilda De Mojà, Elisabetta Pilotto, Davide Londei, Raffaele Parrozzani, Elisabetta Beatrice Nacci, Stefania Zovato, Alfonso Massimiliano Ferrara, Edoardo Midena
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Von Hippel–Lindau (VHL) disease is an autosomal dominant genetic disease caused by VHL gene mutation. Retinal hemangioblastomas (RH) are vascularized tumors and represent the main ocular manifestation of the disease. Histopathologically, RH are com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81beca9866106093a483045813e41e05
https://hdl.handle.net/11577/3379233
https://hdl.handle.net/11577/3379233
Autor:
Kaifang Ma, Jiufeng Zhang, Xiang Peng, Pengjie Wu, Kan Gong, Nienie Qi, Baoan Hong, Shengjie Liu, Jia-Yuan Liu, Shuanghe Peng, Bowen Zhou, Xianghui Ning, Jiangyi Wang, Lin Cai, Jingcheng Zhou, Teng Li
Publikováno v:
Genetics in Medicine. 20:1266-1273
Von Hippel–Lindau (VHL) disease is a rare hereditary cancer syndrome that reduces life expectancy. We aimed to construct a more valuable genotype–phenotype correlation based on alterations in VHL protein (pVHL). VHL patients (n = 339) were recrui
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85630e1d906e841e12804d9e30ff51e8
https://doi.org/10.1038/gim.2017.261
https://doi.org/10.1038/gim.2017.261
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)
Background Von Hippel-Lindau (VHL) syndrome is a familial autosomal dominant hereditary neoplastic disease caused by mutations in the VHL gene. Approximately 503 kinds of VHL gene mutations have been reported. Different types of mutations manifest va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dce70ccd48e56a1f34ef82f2078b13c
http://europepmc.org/articles/PMC6902464
http://europepmc.org/articles/PMC6902464
Autor:
Sudheer Kumar Gara, Naris Nilubol, Dhaval Patel, Patience Green, Pavel Nockel, Mustapha El Lakis, W. Marston Linehan, Electron Kebebew, Xavier M. Keutgen, Amit Tirosh
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 103:1631-1638
Context Patients with von Hippel–Lindau (vHL) disease caused by a missense VHL mutation have a more severe phenotype compared with other VHL mutation types. Objective To define pancreatic neuroendocrine tumor (PNET) aggressiveness according to VHL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08084b3f5c353fa66baa5c4e347e4fe0
https://doi.org/10.1210/jc.2017-02434
https://doi.org/10.1210/jc.2017-02434
Autor:
Nallasivam Palanisamy, Shanker Kalyana-Sundaram, Nilesh S. Gupta, Ravi Barod, Sean R. Williamson, Craig G. Rogers, Dhananjay Chitale, Laura Favazza
Publikováno v:
Modern Pathology. 30:1603-1612
Clear cell renal cell carcinoma is by far the most common form of kidney cancer; however, a number of histologically similar tumors are now recognized and considered distinct entities. The Cancer Genome Atlas published data set was queried (http://cb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c71902fba63e0238c888fbae216eecb3
https://doi.org/10.1038/modpathol.2017.72
https://doi.org/10.1038/modpathol.2017.72