| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Klaus-Martin Kreusel, Nikolaos E Bechrakis, Hartmut P H Neumann, Dieter Schmidt, Michael H Foerste. Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau disease. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie. vol 42. issue 2. 2007-07-30. PMID:17392848. |
the aim of this study was to evaluate patients with solitary juxtapapillary capillary retinal angioma for the presence of von hippel-lindau disease (vhl). |
2007-07-30 |
2023-08-12 |
Not clear |
| Anne-Paule Gimenez-Roqueplo, Hendrik Lehnert, Massimo Mannelli, Hartmut Neumann, Giuseppe Opocher, Eamonn R Maher, Pierre-François Ploui. Phaeochromocytoma, new genes and screening strategies. Clinical endocrinology. vol 65. issue 6. 2007-06-25. PMID:17121518. |
in 166 patients (25.9%) the disease was familial and caused by germline mutations in vhl (56), sdhb (34), sdhd (31), ret (31) or nf1 (14), causing von hippel-lindau disease, sdhb- or sdhd-ph/fpgl syndromes, multiple endocrine neoplasia type 2 (men 2) and type 1 neurofibromatosis (nf1), respectively. |
2007-06-25 |
2023-08-12 |
Not clear |
| B Junker, D Schmidt, H T Agostin. [Retinal angiomatosis. Ocular manifestation of von Hippel-Lindau disease]. Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft. vol 104. issue 2. 2007-05-10. PMID:17219178. |
von hippel-lindau disease (vhl disease) is a rare multisystem disorder of autosomal dominant inheritance with high penetrance. |
2007-05-10 |
2023-08-12 |
Not clear |
| Rebecca E Foster, Mahera Abdulrahman, Mark R Morris, Elena Prigmore, Susan Gribble, Beeling Ng, Dean Gentle, Steven Ready, Phil M T Weston, Michael S Wiesener, Takeshi Kishida, Masahiro Yao, Val Davison, Jose Luis Barbero, Carol Chu, Nigel P Carter, Farida Latif, Eamonn R Mahe. Characterization of a 3;6 translocation associated with renal cell carcinoma. Genes, chromosomes & cancer. vol 46. issue 4. 2007-04-18. PMID:17205537. |
the most frequent cause of familial clear cell renal cell carcinoma (rcc) is von hippel-lindau disease and the vhl tumor suppressor gene (tsg) is inactivated in most sporadic clear cell rcc. |
2007-04-18 |
2023-08-12 |
Not clear |
| William G Kaeli. The von Hippel-Lindau tumor suppressor protein and clear cell renal carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research. vol 13. issue 2 Pt 2. 2007-03-29. PMID:17255293. |
germ line vhl tumor suppressor gene loss-of-function mutations cause von hippel-lindau disease, which is associated with an increased risk of central nervous system hemangioblastomas, clear cell renal carcinomas, and pheochromocytomas. |
2007-03-29 |
2023-08-12 |
Not clear |
| Chi-Chao Chan, Atif Ben Daniel Collins, Emily Y Che. Molecular pathology of eyes with von Hippel-Lindau (VHL) Disease: a review. Retina (Philadelphia, Pa.). vol 27. issue 1. 2007-02-15. PMID:17218907. |
von hippel-lindau disease (vhl) is an autosomal dominant inherited systemic cancer syndrome. |
2007-02-15 |
2023-08-12 |
Not clear |
| Vassilios I Vougioukas, Sven Gläsker, Ulrich Hubbe, Ansgar Berlis, Heymut Omran, Hartmut P H Neumann, Vera Van Velthove. Surgical treatment of hemangioblastomas of the central nervous system in pediatric patients. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 22. issue 9. 2007-02-12. PMID:16369852. |
hemangioblastomas are histologically benign lesions that occur sporadically or as a manifestation of von hippel-lindau disease (vhl). |
2007-02-12 |
2023-08-12 |
Not clear |
| Kan Gong, Ning Zhang, Zheng Zhang, Yanqun N. Coexpression of erythopoietin and erythopoietin receptor in sporadic clear cell renal cell carcinoma. Cancer biology & therapy. vol 5. issue 6. 2007-01-29. PMID:16627979. |
clear cell renal cell carcinoma (ccrcc) is the most common renal carcinoma and it is often associated with von hippel-lindau disease (vhl) gene mutations. |
2007-01-29 |
2023-08-12 |
Not clear |
| Maddalena Martella, Leonardo Salviati, Alberto Casarin, Eva Trevisson, Giuseppe Opocher, Roberta Polli, David Gross, Alessandra Murgi. Molecular analysis of two uncharacterized sequence variants of the VHL gene. Journal of human genetics. vol 51. issue 11. 2007-01-17. PMID:17006605. |
mutations in the vhl gene cause von hippel-lindau disease, a cancer predisposing syndrome characterized by a variety of benign and malignant neoplasms. |
2007-01-17 |
2023-08-12 |
Not clear |
| Keith A Delman, Suzanne E Shapiro, Eric W Jonasch, Jeffrey E Lee, Steven A Curley, Douglas B Evans, Nancy D Perrie. Abdominal visceral lesions in von Hippel-Lindau disease: incidence and clinical behavior of pancreatic and adrenal lesions at a single center. World journal of surgery. vol 30. issue 5. 2006-10-19. PMID:16617420. |
von hippel-lindau disease (vhl) is a dominantly inherited multi-system syndrome. |
2006-10-19 |
2023-08-12 |
Not clear |
| Robert L Grubb, Peter L Choyke, Peter A Pinto, W Marston Linehan, McClellan M Walthe. Management of von Hippel-Lindau-associated kidney cancer. Nature clinical practice. Urology. vol 2. issue 5. 2006-04-10. PMID:16474836. |
von hippel-lindau disease (vhl) is an autosomal-dominant inherited condition that predisposes patients to develop renal cysts and tumors, most commonly in the second to fourth decades of life. |
2006-04-10 |
2023-08-12 |
Not clear |
| Péter Igaz, Iván Igaz, Károly Rácz, Zsolt Tulassa. [Hereditary tumours of the endocrine pancreas]. Orvosi hetilap. vol 147. issue 5. 2006-04-06. PMID:16509219. |
some of these tumours appear as part of four hereditary syndromes (multiple endocrine neoplasia type 1 (men1), von hippel-lindau disease (vhl), neurofibromatosis type 1 and tuberous sclerosis) that are all inherited as autosomal dominant traits and result from mutations of tumour suppressor genes. |
2006-04-06 |
2023-08-12 |
Not clear |
| Akihiro Sakurai, Shinya Uchino, Hiroshi Takam. Current status of clinical care for familial endocrine tumor syndromes in Japan. Endocrine journal. vol 52. issue 6. 2006-04-04. PMID:16410669. |
we performed nationwide questionnaire-based surveys to characterize the current status of medical services for endocrine tumor syndromes, such as multiple endocrine neoplasia (men) and von hippel-lindau disease (vhl), in japan. |
2006-04-04 |
2023-08-12 |
Not clear |
| Christopher Williams, McClellan Walthe. Metastatic renal cell carcinoma versus pancreatic neuroendocrine tumor in von Hippel-Lindau disease: treatment with interleukin-2. TheScientificWorldJournal. vol 5. 2006-03-15. PMID:15674444. |
differentiating between clear cell neuroendocrine tumor (net) of the pancreas and renal cell carcinoma (rcc) metastatic to the pancreas can be challenging in patients with von hippel-lindau disease (vhl). |
2006-03-15 |
2023-08-12 |
Not clear |
| Marieke Aarts, Hilde Dannenberg, Ronald J deLeeuw, Francien H van Nederveen, Albert A Verhofstad, J W Lenders, Winand N M Dinjens, Ernst Jan M Speel, Wan L Lam, Ronald R de Krijge. Microarray-based CGH of sporadic and syndrome-related pheochromocytomas using a 0.1-0.2 Mb bacterial artificial chromosome array spanning chromosome arm 1p. Genes, chromosomes & cancer. vol 45. issue 1. 2006-03-15. PMID:16215979. |
they arise sporadically or occur secondary to inherited cancer syndromes, such as multiple endocrine neoplasia type ii (men2), von hippel-lindau disease (vhl), or neurofibromatosis type i (nf1). |
2006-03-15 |
2023-08-12 |
Not clear |
| Hio Chung Kang, Il-Jin Kim, Jae-Hyun Park, Yong Shin, Sang-Geun Jang, Sun-A Ahn, Hye-Won Park, Sun-Kyung Lim, Seung Keun Oh, Dae Jung Kim, Kwan Woo Lee, Young-Sik Choi, Young Joo Park, Min Ro Lee, Duck-Woo Kim, Jae-Gahb Par. Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas. Oncology reports. vol 14. issue 4. 2006-02-03. PMID:16142346. |
three novel vhl germline mutations in korean patients with von hippel-lindau disease and pheochromocytomas. |
2006-02-03 |
2023-08-12 |
Not clear |
| Joshua Fiske, Rupa Patel, Eric Kau, John G Pappas, Roberto A Garcia, Samir S Tanej. Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation. Urology. vol 66. issue 6. 2006-01-26. PMID:16360474. |
von hippel-lindau disease (vhl) is a rare genetic disease with a lifetime risk of clear cell renal cell carcinoma in approximately 70% of cases. |
2006-01-26 |
2023-08-12 |
Not clear |
| Johanna M M Gijtenbeek, Sandra H E Boots-Sprenger, Barbara Franke, Pieter Wesseling, Judith W M Jeuke. Cyclin D1 genotype and expression in sporadic hemangioblastomas. Journal of neuro-oncology. vol 74. issue 3. 2005-12-13. PMID:16187023. |
central nervous system (cns) hemangioblastomas are highly-vascularized tumors occurring in sporadic form or as a manifestation of von hippel-lindau disease (vhl). |
2005-12-13 |
2023-08-12 |
Not clear |
| J Bertherat, A-P Gimenez-Roquepl. New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme. vol 37. issue 6. 2005-09-29. PMID:16001332. |
up to date, four diagnosis of familal disease (multiple endocrine neoplasia type ii, von hippel lindau disease, neurofibromatosis type 1 and hereditary paraganglioma) should be discussed and causative mutations in six different phaechomocytoma susceptibility genes (ret, vhl, nf1, sdhb, sdhd, sdhc) could be identified. |
2005-09-29 |
2023-08-12 |
Not clear |
| Chr Pawlu, B Bausch, N Reisch, H P H Neuman. Genetic testing for pheochromocytoma-associated syndromes. Annales d'endocrinologie. vol 66. issue 3. 2005-09-26. PMID:15988378. |
various syndromes have been found to be associated with the development of pheochromocytomas and paragangliomas: multiple endocrine neoplasia type 2 (men 2, susceptibility gene: ret), von hippel-lindau disease (vhl, susceptibility gene: vhl), neurofibromatosis 1 (nf 1), and paraganglioma syndromes type 1, 3, and 4 (susceptibility genes: succinate dehydrogenase gene, sdh, subunits d, c and b, respectively). |
2005-09-26 |
2023-08-12 |
Not clear |