| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Dewi Astuti, Christopher J Ricketts, Rasheduzzaman Chowdhury, Michael A McDonough, Dean Gentle, Gail Kirby, Susanne Schlisio, Rajappa S Kenchappa, Bruce D Carter, William G Kaelin, Peter J Ratcliffe, Christopher J Schofield, Farida Latif, Eamonn R Mahe. Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility. Endocrine-related cancer. vol 18. issue 1. 2011-04-27. PMID:20959442. |
germline mutations in the von hippel-lindau disease (vhl) and succinate dehydrogenase subunit b (sdhb) genes can cause inherited phaeochromocytoma and/or renal cell carcinoma (rcc). |
2011-04-27 |
2023-08-12 |
Not clear |
| Zoran Erlic, Ursula Ploeckinger, Alberto Cascon, Michael M Hoffmann, Laura von Duecker, Aurelia Winter, Gerit Kammel, Janina Bacher, Maren Sullivan, Berend Isermann, Lars Fischer, Andreas Raffel, Wolfram Trudo Knoefel, Matthias Schott, Tobias Baumann, Oliver Schaefer, Tobias Keck, Richard P Baum, Ioana Milos, Mihaela Muresan, Mariola Peczkowska, Andrzej Januszewicz, Kenko Cupisti, Anke Tönjes, Mathias Fasshauer, Jan Langrehr, Peter von Wussow, Abbas Agaimy, Günter Schlimok, Regina Lamberts, Thorsten Wiech, Kurt Werner Schmid, Alexander Weber, Mercedes Nunez, Mercedes Robledo, Charis Eng, Hartmut P H Neuman. Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. Endocrine-related cancer. vol 17. issue 4. 2011-02-15. PMID:20660572. |
pancreatic islet cell tumors (icts) occur as sporadic neoplasias or as a manifestation of multiple endocrine neoplasia type 1 (men1) and von hippel-lindau disease (vhl). |
2011-02-15 |
2023-08-12 |
Not clear |
| Edurne Lecumberri Pascua. [Associated gastroenteropancreatic neuroendocrine tumours to familiar syndromes]. Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion. vol 56 Suppl 2. 2011-02-01. PMID:19627764. |
the known hereditary syndromes include: multiple endocrine neoplasia type 1 (men 1), von hippel lindau disease (vhl), neurofibromatosis type 1 (nf 1) and tuberous sclerosis complex (tsc). |
2011-02-01 |
2023-08-12 |
Not clear |
| Marta Barontini, Patricia L M Dahi. VHL disease. Best practice & research. Clinical endocrinology & metabolism. vol 24. issue 3. 2011-01-10. PMID:20833332. |
von hippel-lindau disease (vhl) disease increases susceptibility to several malignancies, including renal cell carcinoma, haemangioblastomas of the central nervous system or retina and phaeochromocytomas. |
2011-01-10 |
2023-08-12 |
Not clear |
| P Vanacker, A Vanacker, A Leys, V Thij. Posterior reversible encephalopathy syndrome: a rare neurological manifestation in Von Hippel-Lindau disease. Acta clinica Belgica. vol 65. issue 4. 2010-12-10. PMID:20954470. |
we report on a 34-year-old woman, who was recently diagnosed with von hippel-lindau disease (vhl), genetically confirmed. |
2010-12-10 |
2023-08-12 |
Not clear |
| Deborah J Marsh, Viive M Howel. The use of denaturing high performance liquid chromatography (DHPLC) for mutation scanning of hereditary cancer genes. Methods in molecular biology (Clifton, N.J.). vol 653. 2010-12-06. PMID:20721741. |
specifically, in familial cancer syndromes, dhplc has been reported as a genetic screening tool for the risk of developing breast and ovarian cancer (brca1), von hippel lindau disease (vhl), cowden syndrome (pten), and multiple endocrine neoplasia types 1 and 2 (men1 and ret). |
2010-12-06 |
2023-08-12 |
Not clear |
| Diana Bätschmann Zanotelli, Elisabeth Bruder, Edward Wight, Carolyn Troege. Bilateral papillary cystadenoma of the mesosalpinx: a rare manifestation of Von Hippel-Lindau disease. Archives of gynecology and obstetrics. vol 282. issue 3. 2010-11-29. PMID:20157715. |
we report a rare case of a woman with bilateral papillary cystadenomata of the broad ligament with von hippel-lindau disease (vhl) (other manifestations: capillary hemangioblastomas of the spinal cord). |
2010-11-29 |
2023-08-12 |
Not clear |
| Peter Stalle. Genetic heterogeneity and chromatin modifiers in renal clear cell carcinoma. Future oncology (London, England). vol 6. issue 6. 2010-09-28. PMID:20528227. |
hereditary ccrcc in von hippel-lindau disease is caused by germline mutations of the vhl tumor suppressor gene. |
2010-09-28 |
2023-08-12 |
Not clear |
| C R M Lammens, E M A Bleiker, S Verhoef, F J Hes, M G E M Ausems, D Majoor-Krakauer, R H Sijmons, R B van der Luijt, A M W van den Ouweland, T A M Van Os, N Hoogerbrugge, E B Gómez García, C J Dommering, C M Gundy, N K Aaronso. Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress. Clinical genetics. vol 77. issue 5. 2010-09-14. PMID:20184621. |
von hippel-lindau disease (vhl) is a hereditary tumor susceptibility syndrome, characterized by an increased risk of developing multiple benign and malignant tumors at various sites and ages with limited preventive options. |
2010-09-14 |
2023-08-12 |
Not clear |
| Matthew S Davenport, Elaine M Caoili, Richard H Cohan, Carrie N Hoff, James H Elli. Pancreatic manifestations of von Hippel-Lindau disease-effect of imaging on clinical management. Journal of computer assisted tomography. vol 34. issue 4. 2010-08-20. PMID:20657218. |
to assess the impact of imaging on pancreatic lesion management in von hippel-lindau disease (vhl). |
2010-08-20 |
2023-08-12 |
Not clear |
| Oscar F Chacon-Camacho, Fernando Rodriguez-Dennen, Alejandra Camacho-Molina, Astrid Rasmussen, Elisa Alonso-Vilatela, Juan C Zenten. Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico. Clinical & experimental ophthalmology. vol 38. issue 3. 2010-08-10. PMID:20447124. |
von hippel-lindau disease (vhl) is an uncommon autosomal dominant condition predisposing to the development of tumours in a variety of body organs and caused by germline mutations in vhl, a tumour suppressor gene located on 3p. |
2010-08-10 |
2023-08-12 |
Not clear |
| Giacomo Pavesi, Silvia Berlucchi, Marina Munari, Renzo Manara, Renato Scienza, Giuseppe Opoche. Clinical and surgical features of lower brain stem hemangioblastomas in von Hippel-Lindau disease. Acta neurochirurgica. vol 152. issue 2. 2010-06-07. PMID:19787293. |
in the context of von hippel-lindau disease (vhl), the medulla oblongata is a relatively frequent site of growth of hemangioblastomas, posing related clinical and surgical difficulties. |
2010-06-07 |
2023-08-12 |
Not clear |
| Ashok R Asthagiri, Gautam U Mehta, Leor Zach, Xiaobai Li, John A Butman, Kevin A Camphausen, Russell R Lonse. Prospective evaluation of radiosurgery for hemangioblastomas in von Hippel-Lindau disease. Neuro-oncology. vol 12. issue 1. 2010-05-11. PMID:20150370. |
to determine the effectiveness of stereotactic radiosurgery (srs) treatment to central nervous system (cns) hemangioblastomas in von hippel-lindau disease (vhl), we analyzed long-term results in vhl patients treated with srs. |
2010-05-11 |
2023-08-12 |
Not clear |
| A Bourguignont, P Blaise, N Janin, J M Raki. [Clinical case of the month. A case of von Hippel-Lindau disease]. Revue medicale de Liege. vol 65. issue 2. 2010-05-04. PMID:20344914. |
von hippel-lindau disease is an inherited multisystemic familial cancer syndrome caused by mutations of the vhl gene. |
2010-05-04 |
2023-08-12 |
Not clear |
| Lucia Micale, Lucia Anna Muscarella, Marco Marzulli, Bartolomeo Augello, Patrizia Tritto, Leonardo D'Agruma, Leopoldo Zelante, Gioacchino Palumbo, Giuseppe Merl. VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line. Journal of biomedicine & biotechnology. vol 2009. 2010-04-29. PMID:20145706. |
different types of germline mutations in the vhl gene cause the von hippel-lindau disease, a dominantly inherited familial cancer syndrome with a marked phenotypic variability and age-dependent penetrance. |
2010-04-29 |
2023-08-12 |
human |
| José Gaal, Nelly Burnichon, Esther Korpershoek, Isabelle Roncelin, Jérôme Bertherat, Pierre-François Plouin, Ronald R de Krijger, Anne-Paule Gimenez-Roqueplo, Winand N M Dinjen. Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. The Journal of clinical endocrinology and metabolism. vol 95. issue 3. 2010-03-31. PMID:19915015. |
paragangliomas and pheochromocytomas are neuroendocrine tumors that occur sporadically and in the context of inherited tumor syndromes including hereditary paraganglioma-pheochromocytoma syndrome and von hippel-lindau disease (vhl). |
2010-03-31 |
2023-08-12 |
Not clear |
| M L M Poulsen, E Budtz-Jørgensen, M L Bisgaar. Surveillance in von Hippel-Lindau disease (vHL). Clinical genetics. vol 77. issue 1. 2010-03-04. PMID:19863552. |
surveillance in von hippel-lindau disease (vhl). |
2010-03-04 |
2023-08-12 |
Not clear |
| M L M Poulsen, E Budtz-Jørgensen, M L Bisgaar. Surveillance in von Hippel-Lindau disease (vHL). Clinical genetics. vol 77. issue 1. 2010-03-04. PMID:19863552. |
von hippel-lindau disease (vhl) is a hereditary multisystem cancer syndrome requiring lifelong prophylactic surveillance. |
2010-03-04 |
2023-08-12 |
Not clear |
| Na-Hye Myong, Bong-Jin Par. Malignant glioma arising at the site of an excised cerebellar hemangioblastoma after irradiation in a von Hippel-Lindau disease patient. Yonsei medical journal. vol 50. issue 4. 2010-03-03. PMID:19718409. |
we describe herein a malignant glioma arising at the site of the resected hemangioblastoma after irradiation in a patient with von hippel-lindau disease (vhl). |
2010-03-03 |
2023-08-12 |
Not clear |
| K-M Kreusel, L Krause, L Graul-Neumann, N E Bechrakis, H P Neumann, M H Foerste. [Family screening in patients with retinal angiomatosis]. Klinische Monatsblatter fur Augenheilkunde. vol 226. issue 11. 2010-02-23. PMID:19916152. |
the aim of this study was to characterise the results of a screening for von hippel-lindau disease (vhl), angiomatosis retinae (ar) and further vhl lesions in at-risk relatives of ophthalmological vhl index patients. |
2010-02-23 |
2023-08-12 |
Not clear |