نتائج البحث - "VHL Gene Mutation"

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دورية أكاديمية

Von Hipple-Lindau disease complicated with central retinal vein occlusion: a case report

المؤلفون: Xingwang Chen, Mengyao Wang, Yuan Tang, Bing Xie, Xiaomei Nie, Shanjun Cai

المصدر: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: von Hipple-Lindau disease, Central retinal vein occlusion, Polycythemia, VHL gene mutation, Case report, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/022cd252c1324a6bba6306a96c768199

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دورية أكاديمية

Von Hipple-Lindau disease complicated with central retinal vein occlusion: a case report

المؤلفون: Chen, Xingwang^{Aff1, Aff2, Aff3, Aff4}, Wang, Mengyao, Tang, Yuan, Xie, Bing^{Aff1, Aff2, Aff3, Aff4}, Nie, Xiaomei, Cai, Shanjun^{Aff1, Aff2, Aff3, Aff4, IDs1288602202661y_cor6}

المصدر: BMC Ophthalmology. 22(1)

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Constellation of Von Hippel–Lindau Disease–Related Findings on a 68Ga-DOTATATE PET/CT

المؤلفون: Ila Sethi, Monica Giles, Charles Marcus, Priya Dayamani John

المصدر: Clinical Nuclear Medicine. 46:829-831

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a5d898ee128f32e951d9c7260b8a37e
https://doi.org/10.1097/rlu.0000000000003693

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Renal Cell Carcinoma with Clear Cell Papillary Features: Perspectives of a Differential Diagnosis

المؤلفون: Erzsébet Rásó, Zoltán Sápi, Béla Iványi, Janina Kulka, Levente Kuthi, Brigitta Vrabély, Alex Jenei, Zoltán Bajory, Tamás Micsik, Áron Somorácz, Adrienn Hajdu

المصدر: Pathology Oncology Research

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Cancer Research, Pathology, medicine.medical_specialty, TFE3, urologic and male genital diseases, Pathology and Forensic Medicine, Diagnosis, Differential, 03 medical and health sciences, Cytokeratin 7-positivity, 0302 clinical medicine, Renal cell carcinoma, Biomarkers, Tumor, Humans, Medicine, Renal sinus, Carcinoma, Renal Cell, VHL gene, Aged, Retrospective Studies, Clear cell carcinoma, Aged, 80 and over, business.industry, General Medicine, DNA Methylation, Middle Aged, medicine.disease, female genital diseases and pregnancy complications, Carcinoma, Papillary, Kidney Neoplasms, Clear cell papillary carcinoma, 030104 developmental biology, medicine.anatomical_structure, Oncology, Von Hippel-Lindau Tumor Suppressor Protein, 030220 oncology & carcinogenesis, Immunohistochemistry, Female, Original Article, Differential diagnosis, business, VHL Gene Mutation, Clear cell

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78509a2289d979615ed16a476d5bb01f
https://doi.org/10.1007/s12253-019-00757-3

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Differentiation of clear cell and non-clear cell renal cell carcinomas by all-relevant radiomics features from multiphase CT: a VHL mutation perspective

المؤلفون: Zhongqiu Wang, Dong Liang, Zhicheng Li, Guangyu Wu, Jinheng Zhang, Hairong Zheng, Guiqin Liu, Guangtao Zhai

المصدر: European Radiology. 29:3996-4007

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, DNA Mutational Analysis, Radiogenomics, Gene mutation, urologic and male genital diseases, 030218 nuclear medicine & medical imaging, Diagnosis, Differential, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Multidetector Computed Tomography, Medical imaging, medicine, Humans, Radiology, Nuclear Medicine and imaging, Von Hippel–Lindau disease, Carcinoma, Renal Cell, Aged, Neoplasm Staging, Retrospective Studies, Neuroradiology, Aged, 80 and over, Receiver operating characteristic, business.industry, Cell Differentiation, DNA, Neoplasm, General Medicine, Middle Aged, medicine.disease, Kidney Neoplasms, Clear cell renal cell carcinoma, ROC Curve, Von Hippel-Lindau Tumor Suppressor Protein, 030220 oncology & carcinogenesis, Mutation, Female, Radiology, business, VHL Gene Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208248c5f38050f9a3af0117a48be198
https://doi.org/10.1007/s00330-018-5872-6

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Genotype and phenotype correlation in von Hippel–Lindau disease based on alteration of the HIF-α binding site in VHL protein

المؤلفون: 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

المصدر: Genetics in Medicine. 20:1266-1273

مصطلحات موضوعية: 0301 basic medicine, Mutation, business.industry, medicine.disease, medicine.disease_cause, Penetrance, Pheochromocytoma, 03 medical and health sciences, 030104 developmental biology, Genotype-phenotype distinction, Renal cell carcinoma, Cancer research, Medicine, Missense mutation, Von Hippel–Lindau disease, business, VHL Gene Mutation, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::85630e1d906e841e12804d9e30ff51e8
https://doi.org/10.1038/gim.2017.261

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Structural and microvascular changes of the peripapillary retinal nerve fiber layer in Von Hippel–Lindau disease: an OCT and OCT angiography study

المؤلفون: Gilda De Mojà, Elisabetta Pilotto, Davide Londei, Raffaele Parrozzani, Elisabetta Beatrice Nacci, Stefania Zovato, Alfonso Massimiliano Ferrara, Edoardo Midena

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, von Hippel-Lindau Disease, genetic structures, Nerve fiber layer, urologic and male genital diseases, chemistry.chemical_compound, 0302 clinical medicine, Nerve Fibers, education.field_of_study, Multidisciplinary, medicine.diagnostic_test, Microvascular Density, Angiography, Middle Aged, Hemangioblastoma, medicine.anatomical_structure, Medicine, Female, medicine.symptom, VHL Gene Mutation, Perfusion, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Science, Retinal Neoplasms, Population, Predictive markers, Article, Lesion, Cancer screening, 03 medical and health sciences, Ophthalmology, medicine, Humans, education, business.industry, Retinal Vessels, Retinal, eye diseases, 030104 developmental biology, Cross-Sectional Studies, chemistry, Case-Control Studies, Microvessels, 030221 ophthalmology & optometry, sense organs, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81beca9866106093a483045813e41e05
https://hdl.handle.net/11577/3379233

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Novel gene mutation in von Hippel-Lindau disease – a report of two cases

المؤلفون: Jitian Wang, Zhaoxia Wang, Hong Zhu, Wenjie Cao

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, lcsh:Internal medicine, medicine.medical_specialty, Novel mutation, von Hippel-Lindau Disease, lcsh:QH426-470, endocrine system diseases, Case Report, Gene mutation, Biology, 010502 geochemistry & geophysics, urologic and male genital diseases, 01 natural sciences, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Von Hippel–Lindau disease, lcsh:RC31-1245, Gene, neoplasms, von Hippel-Lindau syndrome, Genetics (clinical), 0105 earth and related environmental sciences, von Hippel-Lindau gene, Cytogenetics, Middle Aged, medicine.disease, Human genetics, female genital diseases and pregnancy complications, lcsh:Genetics, 030104 developmental biology, Von Hippel-Lindau Tumor Suppressor Protein, Mutation (genetic algorithm), Mutation, Female, VHL Gene Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dce70ccd48e56a1f34ef82f2078b13c
http://europepmc.org/articles/PMC6902464

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In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel–Lindau Disease

المؤلفون: Sudheer Kumar Gara, Naris Nilubol, Dhaval Patel, Patience Green, Pavel Nockel, Mustapha El Lakis, W. Marston Linehan, Electron Kebebew, Xavier M. Keutgen, Amit Tirosh

المصدر: The Journal of Clinical Endocrinology & Metabolism. 103:1631-1638

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oncology, medicine.medical_specialty, von Hippel-Lindau Disease, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Adrenal Gland Neoplasms, Pheochromocytoma, Neuroendocrine tumors, urologic and male genital diseases, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Hemangioblastoma, Humans, Medicine, Missense mutation, Computer Simulation, Prospective Studies, Von Hippel–Lindau disease, Carcinoma, Renal Cell, Pancreas, Clinical Research Articles, business.industry, Biochemistry (medical), Reproducibility of Results, Middle Aged, Prognosis, medicine.disease, Pancreatic Neoplasms, 030104 developmental biology, medicine.anatomical_structure, Von Hippel-Lindau Tumor Suppressor Protein, 030220 oncology & carcinogenesis, Mutation, Disease Progression, Female, business, VHL Gene Mutation, Natural history study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08084b3f5c353fa66baa5c4e347e4fe0
https://doi.org/10.1210/jc.2017-02434

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Renal cell tumors with clear cell histology and intact VHL and chromosome 3p: a histological review of tumors from the Cancer Genome Atlas database

المؤلفون: Nallasivam Palanisamy, Shanker Kalyana-Sundaram, Nilesh S. Gupta, Ravi Barod, Sean R. Williamson, Craig G. Rogers, Dhananjay Chitale, Laura Favazza

المصدر: Modern Pathology. 30:1603-1612

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c71902fba63e0238c888fbae216eecb3
https://doi.org/10.1038/modpathol.2017.72

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