| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| S Frenzel, T W Apel, P H Heidemann, K Zerres, H P Neumann, H G Dör. Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease. European journal of pediatrics. vol 160. issue 7. 2001-12-07. PMID:11475579. |
phaeochromocytomas usually occur sporadically but may be associated with dominant inherited cancer syndromes such as multiple endocrine neoplasia type 2 (men 2), von hippel-lindau disease (vhl) and type 1 neurofibromatosis. |
2001-12-07 |
2023-08-12 |
Not clear |
| S E Pautler, C P Pavlovich, I Mikityansky, D E Drachenberg, P L Choyke, W M Linehan, B J Wood, M M Walthe. Retroperitoneoscopic-guided radiofrequency ablation of renal tumors. The Canadian journal of urology. vol 8. issue 4. 2001-11-01. PMID:11564277. |
herein, we describe the use of multiple organ-sparing techniques for the management of tumors in a patient with von hippel lindau disease (vhl). |
2001-11-01 |
2023-08-12 |
Not clear |
| M Niemelä, H Mäenpää, P Salven, P Summanen, K Poussa, L Laatikainen, J Jääskeläinen, H Joensu. Interferon alpha-2a therapy in 18 hemangioblastomas. Clinical cancer research : an official journal of the American Association for Cancer Research. vol 7. issue 3. 2001-10-11. PMID:11297241. |
multiple hemangioblastomas (hbs) of the central nervous system (cns) and retina are associated with von hippel-lindau disease (vhl) and also predispose individuals to renal cell carcinomas and visceral cysts. |
2001-10-11 |
2023-08-12 |
Not clear |
| C A Strataki. Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes. Journal of endocrinological investigation. vol 24. issue 5. 2001-10-11. PMID:11407658. |
molecular defects have also been identified in syndromes related to the mens, like peutz-jeghers syndrome (pjs) (the stk11/lkb1 gene), and cowden (cd; the pten gene) and von hippel-lindau disease (vhld; the vhl gene). |
2001-10-11 |
2023-08-12 |
Not clear |
| D J Marsh, G Theodosopoulos, V Howell, A L Richardson, D E Benn, A L Proos, C Eng, B G Robinso. Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. Neoplasia (New York, N.Y.). vol 3. issue 3. 2001-10-04. PMID:11494117. |
we have trialled denaturing high-performance liquid chromatography (dhplc) as a tool for rapid germline mutation scanning of genes implicated in three familial cancer syndromes -- cowden syndrome (pten mutation), multiple endocrine neoplasia type 2 (ret mutation) and von hippel-lindau disease (vhl mutation). |
2001-10-04 |
2023-08-12 |
Not clear |
| H Horiguchi, T Sano, H Toi, T Kageji, M Hirokawa, S Nagahir. Endolymphatic sac tumor associated with a von Hippel-Lindau disease patient: an immunohistochemical study. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. vol 14. issue 7. 2001-08-30. PMID:11455007. |
the authors report a case of endolymphatic sac tumor (elst) associated with von hippel-lindau disease (vhl). |
2001-08-30 |
2023-08-12 |
Not clear |
| S Kamizono, T Hanada, H Yasukawa, S Minoguchi, R Kato, M Minoguchi, K Hattori, S Hatakeyama, M Yada, S Morita, T Kitamura, H Kato, Nakayama Ki, A Yoshimur. The SOCS box of SOCS-1 accelerates ubiquitin-dependent proteolysis of TEL-JAK2. The Journal of biological chemistry. vol 276. issue 16. 2001-05-31. PMID:11278610. |
it has been demonstrated that von hippel-lindau disease (vhl) tumor-suppressor gene product possesses the socs box that forms a complex with elongin b and c and cullin-2, and it functions as a ubiquitin ligase. |
2001-05-31 |
2023-08-12 |
human |
| Y Wu, H Nishio, M J Lee, H Ayaki, A Hayashi, T Ooba, T Ogawa, K Sumin. Molecular genetic analysis and mutation screening of the VHL gene in a Japanese family with von Hippel-Lindau disease. The Kobe journal of medical sciences. vol 46. issue 4. 2001-05-31. PMID:11354926. |
molecular genetic analysis and mutation screening of the vhl gene in a japanese family with von hippel-lindau disease. |
2001-05-31 |
2023-08-12 |
Not clear |
| R K Chatha, A M Johnson, P G Rothberg, R R Townsend, H P Neumann, P A Gabo. Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease. American journal of kidney diseases : the official journal of the National Kidney Foundation. vol 37. issue 4. 2001-05-24. PMID:11273887. |
this confusion can include misclassifications between autosomal dominant polycystic kidney disease (adpkd) and von hippel-lindau disease (vhl). |
2001-05-24 |
2023-08-12 |
Not clear |
| D E Benn, T Dwight, A L Richardson, L Delbridge, C P Bambach, M Stowasser, R D Gordon, D J Marsh, B G Robinso. Sporadic and familial pheochromocytomas are associated with loss of at least two discrete intervals on chromosome 1p. Cancer research. vol 60. issue 24. 2001-02-22. PMID:11156410. |
ten % of these tumors are associated with the familial cancer syndromes multiple endocrine neoplasia type 2, von hippel-lindau disease (vhl), and rarely, neurofibromatosis type 1, in which germ-line mutations have been identified in ret, vhl, and nf1, respectively. |
2001-02-22 |
2023-08-12 |
Not clear |
| B U Bender, M Gutsche, S Gläsker, B Müller, G Kirste, C Eng, H P Neuman. Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas. The Journal of clinical endocrinology and metabolism. vol 85. issue 12. 2001-02-02. PMID:11134110. |
pheochromocytomas arise sporadically and as a component tumor of the inherited cancer syndromes von hippel-lindau disease (vhl), multiple endocrine neoplasia type 2 (men 2), and type 1 neurofibromatosis. |
2001-02-02 |
2023-08-12 |
Not clear |
| S K Libutti, P L Choyke, H R Alexander, G Glenn, D L Bartlett, B Zbar, I Lubensky, S A McKee, E R Maher, W M Linehan, M M Walthe. Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease. Surgery. vol 128. issue 6. 2001-01-03. PMID:11114638. |
patients with von hippel-lindau disease (vhl) may develop pancreatic neuroendocrine tumors (pnets), which can behave in a malignant fashion. |
2001-01-03 |
2023-08-12 |
Not clear |
| M Krieg, R Haas, H Brauch, T Acker, I Flamme, K H Plat. Up-regulation of hypoxia-inducible factors HIF-1alpha and HIF-2alpha under normoxic conditions in renal carcinoma cells by von Hippel-Lindau tumor suppressor gene loss of function. Oncogene. vol 19. issue 48. 2000-12-28. PMID:11114720. |
in a previous study of hemangioblastomas, the most frequent manifestation of hereditary von hippel-lindau disease (vhl), we found elevated levels of vascular endothelial growth factor and hif-2alpha mrna in stromal cells of the tumors. |
2000-12-28 |
2023-08-12 |
Not clear |
| S Piermarocchi, G Lo Giudice, E Pilotto, E Bertoja, C Scaroni, M Martella, G Opocher, A Murgi. Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. vol 238. issue 7. 2000-12-22. PMID:10955664. |
von hippel-lindau disease (vhl) is a hereditary cancer syndrome in which affected individuals are at risk of developing tumors in multiple organs, including eyes, cerebellum, spinal cord, kidneys, inner ear, adrenal glands and pancreas. |
2000-12-22 |
2023-08-12 |
Not clear |
| A O Vortmeyer, D Choo, S Pack, E Oldfield, Z Zhuan. VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease. Neurology. vol 55. issue 3. 2000-08-21. PMID:10932304. |
vhl gene inactivation in an endolymphatic sac tumor associated with von hippel-lindau disease. |
2000-08-21 |
2023-08-12 |
Not clear |
| S Richard, P David, K Marsot-Dupuch, S Giraud, C Béroud, F Resch. Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease. Neurosurgical review. vol 23. issue 1. 2000-07-20. PMID:10809480. |
von hippel-lindau disease (vhl) is a hereditary cancer syndrome caused by germline mutations of the vhl tumor suppressor gene. |
2000-07-20 |
2023-08-12 |
Not clear |
| D Schmidt, E Natt, H P Neuman. Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease. European journal of medical research. vol 5. issue 2. 2000-05-03. PMID:10720563. |
in von hippel-lindau disease (vhl), retinal detachment is often a real threat if the retinal angiomas are left untreated. |
2000-05-03 |
2023-08-12 |
Not clear |
| M Los, T P Links, J W Lenders, E E Voes. [Von Hippel-Lindau disease]. Nederlands tijdschrift voor geneeskunde. vol 144. issue 11. 2000-04-26. PMID:10735133. |
von hippel-lindau disease (vhl) is an autosomal dominant inherited cancer syndrome. |
2000-04-26 |
2023-08-12 |
Not clear |
| F J Hes, R B van der Luij. [Von Hippel-Lindau disease: protocols for diagnosis and periodical clinical monitoring. National Von Hippel-Lindau Disease Working Group]. Nederlands tijdschrift voor geneeskunde. vol 144. issue 11. 2000-04-26. PMID:10735135. |
von hippel-lindau disease (vhl) is an autosomal dominantly inherited syndrome with high penetrance, characterised by tumours in various organs. |
2000-04-26 |
2023-08-12 |
Not clear |
| M Yoshida, S Ashida, K Kondo, K Kobayashi, H Kanno, N Shinohara, N Shitara, T Kishida, S Kawakami, M Baba, I Yamamoto, M Hosaka, T Shuin, M Ya. Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. Japanese journal of cancer research : Gann. vol 91. issue 2. 2000-04-20. PMID:10761708. |
we have previously reported on the analysis of germ-line mutations in japanese von hippel-lindau disease (vhl) patients and found mutations in 26 families. |
2000-04-20 |
2023-08-12 |
Not clear |