Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 133 Records) |
| Query Trace: Disease and VHL[original query] |
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| Variants in the new E1' cryptic exon of the VHL gene associated with congenital erythrocytosis-Description of three cases. EJHaem 2022 9 3 (3): 989-991. Rodrigues Catarina Dantas, Pombal Rita, Pereira Janet, Relvas Luís, Cunha Elizabete, Almeida José Carlos, Maia Tabita, Silva Helena, Bento Celes |
| Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata. eLife 2022 8 11 . Ohh Michael, Taber Cassandra C, Ferens Fraser G, Tarade Dani |
| Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia. Medicina (Kaunas, Lithuania) 2022 Aug 58 (8): . Provenzano Aldesia, Chetta Massimiliano, De Filpo Giuseppina, Cantini Giulia, La Barbera Andrea, Nesi Gabriella, Santi Raffaella, Martinelli Serena, Rapizzi Elena, Luconi Michaela, Maggi Mario, Mannelli Massimo, Ercolino Tonino, Canu Letiz |
| Matched Molecular Profiling of Cell-Free DNA and Tumor Tissue in Patients With Advanced Clear Cell Renal Cell Carcinoma. JCO precision oncology 2022 07 6 e2200012. Kotecha Ritesh R, Gedvilaite Erika, Ptashkin Ryan, Knezevic Andrea, Murray Samuel, Johnson Ian, Shapnik Natalie, Feldman Darren R, Carlo Maria I, Shah Neil J, Dunigan Marisa, Huberman Kety, Benayed Ryma, Zehir Ahmet, Berger Michael F, Ladanyi Marc, Tsui Dana W Y, Motzer Robert J, Lee Chung-Han, Voss Martin |
| Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report. Frontiers in oncology 2022 7 12 925582. Tung Moon Ley, Chandra Bharatendu, Dillahunt Kyle, Gosse Matthew D, Sato T Shawn, Sidhu Al |
| VHL and DNA damage repair pathway alterations as potential clinical biomarkers for first-line TKIs in metastatic clear cell renal cell carcinomas. Cellular oncology (Dordrecht) 2022 7 45 (4): 677-687. Zhou Jiale, Wang Junyun, Kong Wen, Zhang Jin, Wu Xiaorong, Huang Jiwei, Zheng Junhua, Chen Yonghui, Zhai Wei, Xue W |
| Genotype-Phenotype Correlations and Clinical Outcomes in 155 Cases of Pheochromocytoma and Paraganglioma. World journal of surgery 2022 12 47 (3): 690-698. Wang Hogan, Papachristos Alexander J, Gill Anthony J, Clifton-Bligh Roderick, Aniss Ahmad M, Glover Anthony, Sywak Mark, Sidhu Stan |
| The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021. Frontiers in genetics 2022 11 13 1020543. Roht Laura, Tooming Mikk, Rekker Kadri, Roomere Hanno, Toome Kadri, Murumets Ülle, Šamarina Ustina, Õunap Katrin, Kahre Tii |
| Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients. Korean journal of ophthalmology : KJO 2022 Oct . Lee Sang Ha, Park Kyu Hyung, Woo Se Joon, Park Sang Jun, Joo Kwangs |
| Gene mutation profiling and clinical significances in patients with renal cell carcinoma. Clinics (Sao Paulo, Brazil) 2023 7 78 100259. Yongquan Wang, Peng He, Xiaozhou Zhou, Cong Wang, Jian Fu, Dawei Zhang, Deyang Liao, Zhansong Zhou, Chunman Wu, Wei Go |
| Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors. Journal of clinical medicine 2023 7 12 (13): . Krisztián Szegedi, Zsuzsanna Szabó, Judit Kállai, József Király, Erzsébet Szabó, Zsuzsanna Bereczky, Éva Juhász, Balázs Dezs?, Csaba Szász, Barbara Zsebik, Tibor Flaskó, Gábor Halm |
| Genotype-phenotype associations in paragangliomas of the temporal bone in a multi-ethnic cohort. Acta oto-laryngologica 2023 6 1-7. Simon I Angeli, Juan A Chiossone K, Stefania Goncalves, Fred F Telisc |
| Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2?+?metastatic breast cancer. Scientific reports 2023 6 13 (1): 9928. Kyoungmin Lee, Jongwon Lee, Jungmin Choi, Sung Hoon Sim, Jeong Eun Kim, Min Hwan Kim, Yeon Hee Park, Jee Hyun Kim, Su-Jin Koh, Kyong Hwa Park, Myoung Joo Kang, Mi Sun Ahn, Kyoung Eun Lee, Hee-Jun Kim, Hee Kyung Ahn, Han Jo Kim, Keon Uk Park, In Hae Pa |
| Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions. Journal of medical genetics 2023 4 60 (5): 477-483. Kenan Zhang, Wuping Yang, Kaifang Ma, Jianhui Qiu, Lei Li, Yawei Xu, Zedan Zhang, Chaojian Yu, Jingcheng Zhou, Yanqing Gong, Lin Cai, Kan Go |
| Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 2 OF1-OF12. Vasudev Naveen S, Scelo Ghislaine, Glennon Kate I, Wilson Michelle, Letourneau Louis, Eveleigh Robert, Nourbehesht Nazanin, Arseneault Madeleine, Paccard Antoine, Egevad Lars, Viksna Juris, Celms Edgars, Jackson Sharon M, Abedi-Ardekani Behnoush, Warren Anne Y, Selby Peter J, Trainor Sebastian, Kimuli Michael, Cartledge Jon, Soomro Naeem, Adeyoju Adebanji, Patel Poulam M, Wozniak Magdalena B, Holcatova Ivana, Brisuda Antonin, Janout Vladimir, Chanudet Estelle, Zaridze David, Moukeria Anush, Shangina Oxana, Foretova Lenka, Navratilova Marie, Mates Dana, Jinga Viorel, Bogdanovic Ljiljana, Kovacevic Bozidar, Cambon-Thomsen Anne, Bourque Guillaume, Brazma Alvis, Tost Jörg, Brennan Paul, Lathrop Mark, Riazalhosseini Yasser, Banks Rosamonde |
| Prostate Cancer Patient Stratification by Molecular Signatures in the Veterans Precision Oncology Data Commons. Cold Spring Harbor molecular case studies 2023 12 . Kyle M Hernandez, Aarti Venkat, Danne C Elbers, John R Bihn, Mary T Brophy, Nhan V Do, Jennifer La, Qiong Liu, Andrew Prokhorenkov, Noah Metoki-Shlubsky, Feng-Chi Sung, Channing J Paller, Nathanael R Fillmore, Robert L Grossm |
| Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma. medRxiv : the preprint server for health sciences 2023 1 . Han Seunghun, Camp Sabrina Y, Chu Hoyin, Collins Ryan, Gillani Riaz, Park Jihye, Bakouny Ziad, Ricker Cora A, Reardon Brendan, Moore Nicholas, Kofman Eric, Labaki Chris, Braun David, Choueiri Toni K, AlDubayan Saud H, Van Allen Eliezer |
| Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma. Cancers 2024 9 16 (17): . Fiona Bruinsma, Philip Harraka, Susan Jordan, Daniel J Park, Bernard Pope, Jason Steen, Roger L Milne, Graham G Giles, Ingrid Winship, Katherine M Tucker, Melissa C Southey, Tu Nguyen-Dumo |
| Differences in mutations across tumour sizes in clear-cell renal cell carcinoma. BJU international 2024 9 . Steven M Monda, Benjamin W Carney, Allison M May, Shuchi Gulati, Simpa S Salami, Thenappan Chandrasekar, Evan T Keller, Nicolai A Huebner, Ganesh S Palapattu, Marc A Dall'E |
| The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis. BMC ophthalmology 2024 8 24 (1): 343. Fatemeh Azimi, Masood Naseripour, Ali Aghajani, Hengameh Kasraei, Samira Chaibakh |
| Innovative solutions? Belzutifan therapy for hemangioblastomas in Von Hippel-Lindau disease: A systematic review and single-arm meta-analysis. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2024 8 128 110774. Lucca B Palavani, Raphael Camerotte, Bernardo Vieira Nogueira, Márcio Yuri Ferreira, Leonardo B Oliveira, Lucas Pari Mitre, Wilson Coelho Nogueira de Castro, Gisele Lúcia Canto Gomes, Luis F Fabrini Paleare, Sávio Batista, Filipi Fim Andreão, Raphael Bertani, Allan Dias Polveri |
| Saturation genome editing maps the functional spectrum of pathogenic VHL alleles. Nature genetics 2024 7 . Megan Buckley, Chloé Terwagne, Athina Ganner, Laura Cubitt, Reid Brewer, Dong-Kyu Kim, Christina M Kajba, Nicole Forrester, Phoebe Dace, Joachim De Jonghe, Scott T C Shepherd, Chelsea Sawyer, Mairead McEwen, Sven Diederichs, Elke Neumann-Haefelin, Samra Turajlic, Evgueni A Ivakine, Gregory M Findl |
| Clinical significance of circulating biomarkers of immune-checkpoint molecules with atezolizumab plus bevacizumab therapy in unresectable hepatocellular carcinoma. Hepatology international 2024 7 . Makoto Chuma, Haruki Uojima, Hidenori Toyoda, Atsushi Hiraoka, Yoshitake Arase, Masanori Atsukawa, Norio Itokawa, Tomomi Okubo, Toshifumi Tada, Kazushi Numata, Manabu Morimoto, Makoto Sugimori, Akito Nozaki, Shuichiro Iwasaki, Satoshi Yasuda, Yuichi Koshiyama, Yusuke Mishima, Kota Tsuruya, Chikako Tokoro, Yuki Miura, Hisashi Hidaka, Takashi Kumada, Chika Kusano, Tatehiro Kagawa, Shin Mae |
| Mutational profile of primary clear cell renal cell carcinoma predicts recurrence and potential candidacy for adjuvant immune checkpoint inhibition. F1000Research 2024 6 12 918. Panagiotis J Vlachostergios, Maria Papathanassiou, Maria Anagnostou, Eleni Thodou, Ioannis Tamposis, Lampros Mitrakas, Ioannis Zachos, George K Koukoulis, Maria Samara, Vassilios Tzortz |
| Clinical and Genomic Features of Patients with Renal Cell Carcinoma and Advanced Chronic Kidney Disease: Analysis of a Multi-Institutional Database. Cancers 2024 5 16 (10): . Corbin J Eule, Junxiao Hu, Dale Hedges, Alkesh Jani, Thomas Pshak, Brandon J Manley, Alejandro Sanchez, Robert Dreicer, Zin W Myint, Yousef Zakharia, Elaine T L |
| Pheochromocytoma in von Hippel-Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma. Clinical endocrinology 2024 12 . Tianyi Li, Yunying Cui, Yue Zhou, Ting Zhou, Shi Chen, Lin Lu, Yushi Zhang, Anli To |
| Tumor infiltrating T-cells and loss of expression of SWI/SNF genes in varying stages of clear cell renal cell carcinoma. Pathology, research and practice 2024 12 266 155774. Alaa S Hrizat, Ruihe Lin, Jaime Eberle-Singh, Raymond O'Neill, Yan Xia, Joseph R Testa, Robert Uzzo, Peter A McCue, Haifeng Yang, Li |
| Genetic landscape of Romanian PPGLs. Journal of cellular and molecular medicine 2024 12 28 (23): e70204. Sofia-Maria Lider-Burciulescu, Monica Gheorghiu, Elena Braha, Laura Semonia Stanescu, Attila Patocs, Corin Bad |
| Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans. PloS one 2024 10 19 (10): e0311665. Sungsoon Hwang, Se Woong Kang, Jong-Won Kim, Sang Jin K |
| Investigating the association of VHL gene variants with disease risk and clinicopathological outcomes in ccRCC patients from West Bengal, India. Urologic oncology 2025 1 . Srilagna Chatterjee, Nirvika Paul, Anwesha Das, Sarbashri Bank, Biswabandhu Bankura, Kunal Sarkar, Soumen Saha, Subhajit Malakar, Sunirmal Choudhury, Sudakshina Ghosh, Madhusudan D |
- Page last reviewed:Feb 1, 2024
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