Human Genome Epidemiology Literature Finder
|
Records 1 - 18 (of 18 Records) |
| Query Trace: Hemangioblastoma and VHL[original query] |
|---|
| Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. Clinical genetics 2007 Aug 72 (2): 122-9. Hes F J, van der Luijt R B, Janssen A L W, Zewald R A, de Jong G J, Lenders J W, Links T P, Luyten G P M, Sijmons R H, Eussen H J, Halley D J J, Lips C J M, Pearson P L, van den Ouweland A M W, Majoor-Krakauer D |
| Genotype-phenotype correlations in VHL exon deletions. American journal of medical genetics. Part A 2009 Oct 149A (10): 2147-51. McNeill Alisdair, Rattenberry Eleanor, Barber Richard, Killick Pip, MacDonald Fiona, Maher Eamonn |
| Germline mutations in the von Hippel-Lindau gene in Italian patients. European journal of medical genetics 0 52 (5): 311-4. Ciotti Paola, Garuti Anna, Gulli Rossella, Ballestrero Alberto, Bellone Emilia, Mandich Pao |
| A vitronectin M381T polymorphism increases risk of hemangioblastoma in patients with VHL gene defect. Journal of molecular medicine (Berlin, Germany) 2009 Jun 87 (6): 613-22. Huang Jing-Shan, Lin Chih-Ming, Cheng Yu-Che, Hung Kun-Long, Chien Chih-Cheng, Chen Shao-Kuan, Chang Chih-Ju, Chen Chan-Wei, Huang Chi-Ju |
| Sporadic hemangioblastomas are characterized by cryptic VHL inactivation. Acta neuropathologica communications 2015 1 2 167. Shankar Ganesh M, Taylor-Weiner Amaro, Lelic Nina, Jones Robert T, Kim James C, Francis Joshua M, Abedalthagafi Malak, Borges Lawrence F, Coumans Jean-Valery, Curry William T, Nahed Brian V, Shin John H, Paek Sun Ha, Park Sung-Hye, Stewart Chip, Lawrence Michael S, Cibulskis Kristian, Thorner Aaron R, Van Hummelen Paul, Stemmer-Rachamimov Anat O, Batchelor Tracy T, Carter Scott L, Hoang Mai P, Santagata Sandro, Louis David N, Barker Fred G, Meyerson Matthew, Getz Gad, Brastianos Priscilla K, Cahill Daniel |
| 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 |
| Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. Chinese journal of cancer 2016 35 (1): 79. Wong Meihua, Chu Ying-Hsia, Tan Hwei Ling, Bessho Hideharu, Ngeow Joanne, Tang Tiffany, Tan Min-H |
| Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-a binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. BMC medical genetics 2016 17 (1): 48. Lee Jee-Soo, Lee Ji-Hyun, Lee Kyu Eun, Kim Jung Hee, Hong Joon Mo, Ra Eun Kyung, Seo Soo Hyun, Lee Seung Jun, Kim Man Jin, Park Sung Sup, Seong Moon-W |
| Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family. Balkan journal of medical genetics : BJMG 2015 Dec 18 (2): 65-70. Kinyas S, Ozal S A, Guclu H, Gurlu V, Esgin H, Gurkan |
| 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 |
| 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 |
| 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 |
| The Genotype-Phenotype Association of Von Hipple Lindau Disease Based on Mutation Locations: A Retrospective Study of 577 Cases in a Chinese Population. Frontiers in genetics 2020 11 532588. Qiu Jianhui, Zhang Kenan, Ma Kaifang, Zhou Jingcheng, Gong Yanqing, Cai Lin, Gong K |
| Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata. eLife 2022 8 11 . Ohh Michael, Taber Cassandra C, Ferens Fraser G, Tarade Dani |
| A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma? Molecular genetics and genomics : MGG 2022 8 297 (6): 1615-1626. Azimi Fatemeh, Aghajani Ali, Khakpour Golnaz, Chaibakhsh Sami |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
- Content source: