Human Genome Epidemiology Literature Finder
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Records 1 - 20 (of 20 Records) |
| Query Trace: von Hippel-Lindau Disease and VHL[original query] |
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| Molecular epidemiology of VHL gene mutations in renal cell carcinoma patients: relation to dietary and other factors. Carcinogenesis 2002 May 23 (5): 809-15. Hemminki Kari, Jiang Yongwen, Ma Xin, Yang Ke, Egevad Lars, Lindblad P |
| Germ-line mutations in nonsyndromic pheochromocytoma. The New England journal of medicine 2002 May 346 (19): 1459-66. Neumann Hartmut P H, Bausch Birke, McWhinney Sarah R, Bender Bernhard U, Gimm Oliver, Franke Gerlind, Schipper Joerg, Klisch Joachim, Altehoefer Carsten, Zerres Klaus, Januszewicz Andrzej, Eng Charis, Smith Wendy M, Munk Robin, Manz Tanja, Glaesker Sven, Apel Thomas W, Treier Markus, Reineke Martin, Walz Martin K, Hoang-Vu Cuong, Brauckhoff Michael, Klein-Franke Andreas, Klose Peter, Schmidt Heinrich, Maier-Woelfle Margarete, Peçzkowska Mariola, Szmigielski Cesary, Eng Charis, |
| Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma. Endocrine-related cancer 2007 Jun 14 (2): 453-62. Korpershoek Esther, Petri Bart-Jeroen, van Nederveen Francien H, Dinjens Winand N M, Verhofstad Albert A, de Herder Wouter W, Schmid Sonja, Perren Aurel, Komminoth Paul, de Krijger Ronald |
| Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. The Journal of clinical endocrinology and metabolism 2009 Jun 94 (6): 1938-44. Boedeker Carsten C, Erlic Zoran, Richard Stéphane, Kontny Udo, Gimenez-Roqueplo Anne-Paule, Cascon Alberto, Robledo Mercedes, de Campos José M, van Nederveen Francien H, de Krijger Ronald R, Burnichon Nelly, Gaal José, Walter Martin A, Reschke Kirsten, Wiech Thorsten, Weber Johannes, Rückauer Klaus, Plouin Pierre Francois, Darrouzet Vincent, Giraud Sophie, Eng Charis, Neumann Hartmut P |
| Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. The Journal of surgical research 2009 Nov 157 (1): 55-62. Meyer-Rochow Goswin Y, Smith Janine M, Richardson Anne-Louise, Marsh Deborah J, Sidhu Stan B, Robinson Bruce G, Benn Diana |
| Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. The Journal of clinical endocrinology and metabolism 2010 Mar 95 (3): 1274-8. Gaal José, Burnichon Nelly, Korpershoek Esther, Roncelin Isabelle, Bertherat Jérôme, Plouin Pierre-François, de Krijger Ronald R, Gimenez-Roqueplo Anne-Paule, Dinjens Winand N |
| Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. The Journal of clinical endocrinology and metabolism 2010 Jan 95 (1): 308-13. Erlic Zoran, Hoffmann Michael M, Sullivan Maren, Franke Gerlind, Peczkowska Mariola, Harsch Igor, Schott Matthias, Gabbert Helmut E, Valimäki Matti, Preuss Simon F, Hasse-Lazar Kornelia, Waligorski Dariusz, Robledo Mercedes, Januszewicz Andrzej, Eng Charis, Neumann Hartmut P |
| Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility. Endocrine-related cancer 2011 Feb 18 (1): 73-83. Astuti Dewi, Ricketts Christopher J, Chowdhury Rasheduzzaman, McDonough Michael A, Gentle Dean, Kirby Gail, Schlisio Susanne, Kenchappa Rajappa S, Carter Bruce D, Kaelin William G, Ratcliffe Peter J, Schofield Christopher J, Latif Farida, Maher Eamonn |
| Clinical significance of hypermethylation status in NSCLC: evaluation of a 30-gene panel in patients with advanced disease. Anticancer research 2011 Dec 31 (12): 12. Pesek M, Kopeckova M, Benesova L, Meszarosova A, Mukensnabl P, Bruha F, Minarik M |
| VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease. Genetic testing and molecular biomarkers 2016 Sep . Mathó Cecilia, Sansó Gabriela, Diez Blanca, Barontini Marta, Pennisi Patricia |
| Survival and causes of death in patients with von Hippel-Lindau disease. Journal of medical genetics 2016 Aug . Binderup Marie Louise Mølgaard, Jensen Annette Møller, Budtz-Jørgensen Esben, Bisgaard Marie Lui |
| Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. The British journal of ophthalmology 2017 10 102 (7): 942-947. Binderup Marie Louise Mølgaard, Stendell Anne-Sophie, Galanakis Michael, Møller Hans Ulrik, Kiilgaard Jens F, Bisgaard Marie Lui |
| Association of VHL Genotype With Pancreatic Neuroendocrine Tumor Phenotype in Patients With von Hippel-Lindau Disease. JAMA oncology 2017 10 4 (1): 124-126. Tirosh Amit, Sadowski Samira M, Linehan W Marston, Libutti Steven K, Patel Dhaval, Nilubol Naris, Kebebew Electr |
| Genotype and phenotype correlation in von Hippel-Lindau disease based on alteration of the HIF-? binding site in VHL protein. Genetics in medicine : official journal of the American College of Medical Genetics 2018 3 20 (10): 1266-1273. Liu Sheng-Jie, Wang Jiang-Yi, Peng Shuang-He, Li Teng, Ning Xiang-Hui, Hong Bao-An, Liu Jia-Yuan, Wu Peng-Jie, Zhou Bo-Wen, Zhou Jing-Cheng, Qi Nie-Nie, Peng Xiang, Zhang Jiu-Feng, Ma Kai-Fang, Cai Lin, Gong K |
| A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease. BMC medical genetics 2018 11 19 (1): 204. Wu Xing, Chen Lanlan, Zhang Yixin, Xie Hainan, Xue Meirong, Wang Yi, Huang Houb |
| In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease. The Journal of clinical endocrinology and metabolism 2018 1 103 (4): 1631-1638. Tirosh Amit, El Lakis Mustapha, Green Patience, Nockel Pavel, Patel Dhaval, Nilubol Naris, Gara Sudheer Kumar, Keutgen Xavier M, Linehan W Marston, Kebebew Electr |
| A synonymous VHL variant in exon 2 confers susceptibility to familial pheochromocytoma and von Hippel-Lindau disease. The Journal of clinical endocrinology and metabolism 2019 4 104 (9): 3826-34. Flores Shahida K, Cheng Ziming, Jasper Angela M, Natori Keiko, Okamoto Takahiro, Tanabe Akiyo, Gotoh Koro, Shibata Hirotaka, Sakurai Akihiro, Nakai Takuya, Wang Xiaojing, Zethoven Magnus, Balachander Shiva, Aita Yuichi, Young William, Zheng Siyuan, Takekoshi Kazuhiro, Nakamura Eijiro, Tothill Richard W, Aguiar Ricardo C T, Dahia Patricia L |
| Clinical diagnosis, treatment and screening of the VHL gene in three von Hippel-Lindau disease pedigrees. Experimental and therapeutic medicine 2020 8 20 (2): 1237-1244. Lin Guobing, Zhao Yihua, Zhang Zhewei, Zhang Huijia |
| Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma. Journal of medical genetics 2020 1 57 (11): 752-759. Buffet Alexandre, Calsina Bruna, Flores Shahida, Giraud Sophie, Lenglet Marion, Romanet Pauline, Deflorenne Elisa, Aller Javier, Bourdeau Isabelle, Bressac-de Paillerets Brigitte, Calatayud María, Dehais Caroline, De Mones Del Pujol Erwan, Elenkova Atanaska, Herman Philippe, Kamenický Peter, Lejeune Sophie, Sadoul Jean Louis, Barlier Anne, Richard Stephane, Favier Judith, Burnichon Nelly, Gardie Betty, Dahia Patricia L, Robledo Mercedes, Gimenez-Roqueplo Anne-Pau |
| The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis. Genes 2022 2 13 (2): . Hudler Petra, Urbancic Moj |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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