| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| V Couch, N M Lindor, P S Karnes, V V Michel. von Hippel-Lindau disease. Mayo Clinic proceedings. vol 75. issue 3. 2000-03-29. PMID:10725953. |
an autosomal dominant tumor predisposition syndrome, von hippel-lindau disease (vhl) is characterized by the presence of benign and malignant tumors. |
2000-03-29 |
2023-08-12 |
Not clear |
| M T Sgambati, C Stolle, P L Choyke, M M Walther, B Zbar, W M Linehan, G M Glen. Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. American journal of human genetics. vol 66. issue 1. 2000-03-09. PMID:10631138. |
von hippel-lindau disease (vhl [mim 193300]) is a heritable autosomal dominant multiple-neoplastic disorder with high penetrance. |
2000-03-09 |
2023-08-12 |
Not clear |
| B Wysocka, M Wełnicka-Jaśkiewicz, K Matuszewska, P Słoniewski, J Jassem, E Izycka-Swieszewska, J Borowska-Lehman, J Limo. The occurrence of cerebellar hemangioblastoma in numerous first degree relatives with von Hippel-Lindau disease. Folia neuropathologica. vol 37. issue 3. 2000-02-08. PMID:10581854. |
von hippel-lindau disease is an autosomal dominant disorder caused by a mutation of vhl gene. |
2000-02-08 |
2023-08-12 |
Not clear |
| M Niemelä, S Lemeta, P Summanen, T Böhling, M Sainio, J Kere, K Poussa, R Sankila, H Haapasalo, H Kääriäinen, E Pukkala, J Jääskeläine. Long-term prognosis of haemangioblastoma of the CNS: impact of von Hippel-Lindau disease. Acta neurochirurgica. vol 141. issue 11. 2000-01-31. PMID:10592114. |
the aim was to assess the frequency of von hippel-lindau disease (vhl) and the long-term prognosis of vhl and non-vhl patients among 110 consecutive patients with haemangioblastoma (hb) of the cns treated between 1953 and 1993 at one neurosurgical unit. |
2000-01-31 |
2023-08-12 |
Not clear |
| S Gläsker, B U Bender, T W Apel, E Natt, V van Velthoven, R Scheremet, J Zentner, H P Neuman. The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. Journal of neurology, neurosurgery, and psychiatry. vol 67. issue 6. 1999-12-29. PMID:10567493. |
genetic testing for germline mutations predisposing to von hippel-lindau disease has been available since identification of the vhl tumour suppressor gene. |
1999-12-29 |
2023-08-12 |
Not clear |
| K Iwai, K Yamanaka, T Kamura, N Minato, R C Conaway, J W Conaway, R D Klausner, A Paus. Identification of the von Hippel-lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex. Proceedings of the National Academy of Sciences of the United States of America. vol 96. issue 22. 1999-12-10. PMID:10535940. |
mutations of von hippel-lindau disease (vhl) tumor-suppressor gene product (pvhl) are found in patients with dominant inherited vhl syndrome and in the vast majority of sporadic clear cell renal carcinomas. |
1999-12-10 |
2023-08-12 |
human |
| T Shui. [Molecular genetic mechanism of hereditary human kidney cancer development]. Nihon Hinyokika Gakkai zasshi. The japanese journal of urology. vol 90. issue 5. 1999-09-15. PMID:10386052. |
loss of function of the vhl disease gene is responsible for the von hippel-lindau disease and major portion of sporadic clear cell renal carcinoma. |
1999-09-15 |
2023-08-12 |
human |
| N Kawahara, H Kume, K Ueki, K Mishima, T Sasaki, T Kirin. VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease. Neurology. vol 53. issue 1. 1999-08-09. PMID:10408561. |
vhl gene inactivation in an endolymphatic sac tumor associated with von hippel-lindau disease. |
1999-08-09 |
2023-08-12 |
Not clear |
| G Aubert-Petit, E Baudin, A F Cailleux, G Pellegriti, D Elias, J P Travagli, S Giraud, S Richard, M Schlumberge. [Neuro-endocrine tumors and von Hippel-Lindau disease. 3 cases]. Presse medicale (Paris, France : 1983). vol 28. issue 23. 1999-08-02. PMID:10420887. |
neuroendocrine tumors can occur in patients with hereditary syndromes predisposing to multiple endocrine neoplasia (men) and von hippel-lindau disease (vhl). |
1999-08-02 |
2023-08-12 |
Not clear |
| F J Hes, M A Feldber. Von Hippel-Lindau disease: strategies in early detection (renal-, adrenal-, pancreatic masses). European radiology. vol 9. issue 4. 1999-07-09. PMID:10354869. |
von hippel-lindau disease (vhl) is a hereditary syndrome characterized by a predisposition for bilateral and multicentric retinal angiomas, hemangioblastomas in the central nervous system (cns), renal cell carcinomas, pheochromocytomas, islet cell tumors of the pancreas, and endolymphatic sac tumors, as well as cysts in the kidney, pancreas, and epididymis. |
1999-07-09 |
2023-08-12 |
Not clear |
| C Stolle, G Glenn, B Zbar, J S Humphrey, P Choyke, M Walther, S Pack, K Hurley, C Andrey, R Klausner, W M Lineha. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Human mutation. vol 12. issue 6. 1999-06-04. PMID:9829911. |
von hippel-lindau disease (vhl) is an inherited neoplastic disorder characterized by the development of tumors in the eyes, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis. |
1999-06-04 |
2023-08-12 |
Not clear |
| S Olschwang, S Richard, C Boisson, S Giraud, P Laurent-Puig, F Resche, G Thoma. Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. Human mutation. vol 12. issue 6. 1999-06-04. PMID:9829912. |
germline mutation profile of the vhl gene in von hippel-lindau disease and in sporadic hemangioblastoma. |
1999-06-04 |
2023-08-12 |
Not clear |
| F J Hes, P J Slootweg, T J van Vroonhoven, R J Hené, M A Feldberg, R A Zewald, J K Ploos van Amstel, J W Höppener, P L Pearson, C J Lip. Management of renal cell carcinoma in von Hippel-Lindau disease. European journal of clinical investigation. vol 29. issue 1. 1999-05-03. PMID:10092992. |
an evaluation of nephron-sparing surgery (nss) or radical nephrectomy (rn) for treating renal cell carcinoma (rcc) in patients with von hippel-lindau disease (vhl) was carried out. |
1999-05-03 |
2023-08-12 |
Not clear |
| A M Jensen, M L Bisgaar. [Von Hippel-Lindau disease and molecular genetic diagnosis]. Ugeskrift for laeger. vol 161. issue 7. 1999-03-08. PMID:10051806. |
von hippel-lindau disease (vhl) is an autosomal dominant inherited disorder, characterized by cysts and neoplastic formations mainly in the cerebellum, retina, pancreas, kidneys and adrenal glands. |
1999-03-08 |
2023-08-12 |
Not clear |
| S K Libutti, P L Choyke, D L Bartlett, H Vargas, M Walther, I Lubensky, G Glenn, W M Linehan, H R Alexande. Pancreatic neuroendocrine tumors associated with von Hippel Lindau disease: diagnostic and management recommendations. Surgery. vol 124. issue 6. 1999-01-11. PMID:9854597. |
von hippel lindau disease (vhl) is an inherited syndrome characterized by tumors of the kidney, adrenal, central nervous system, and pancreas. |
1999-01-11 |
2023-08-12 |
Not clear |
| F Salomé, P Colombeau, V Fermeaux, P Cazaux, J P Dumas, P Pfeifer, J J Moreau, S Richard, F Labrouss. Renal lesions in Von Hippel-Lindau disease: the benign, the malignant, the unknown. European urology. vol 34. issue 5. 1998-12-29. PMID:9803000. |
to describe the features and treatment of renal lesions in von hippel-lindau disease (vhl) from a series of patients, to highlight important issues in the management of these lesions. |
1998-12-29 |
2023-08-12 |
Not clear |
| L Geil, E Semenova, M I Lerman, I Kuzmi. A PCR generated BsaJ I RFLP in the promoter of the von Hippel-Lindau disease (VHL) tumour suppressor gene. Molecular and cellular probes. vol 12. issue 5. 1998-12-14. PMID:9778462. |
a pcr generated bsaj i rflp in the promoter of the von hippel-lindau disease (vhl) tumour suppressor gene. |
1998-12-14 |
2023-08-12 |
Not clear |
| A R Webster, F M Richards, F E MacRonald, A T Moore, E R Mahe. An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. American journal of human genetics. vol 63. issue 4. 1998-12-04. PMID:9758595. |
von hippel-lindau disease (vhl) is a dominantly inherited familial cancer syndrome predisposing to ocular and cns hemangioblastomas, renal-cell carcinoma (rcc), and pheochromocytoma. |
1998-12-04 |
2023-08-12 |
Not clear |
| N Satake, S Urakami, Y Hirayama, K Izumi, O Hin. Biallelic mutations of the Tsc2 gene in chemically induced rat renal cell carcinoma. International journal of cancer. vol 77. issue 6. 1998-09-14. PMID:9714060. |
we simultaneously searched for mutations in the vhl gene, a rat homologue of von hippel-lindau disease (vhl) gene, as well as the tsc2 gene. |
1998-09-14 |
2023-08-12 |
human |
| W G Kaelin, O Iliopoulos, K M Lonergan, M Oh. Functions of the von Hippel-Lindau tumour suppressor protein. Journal of internal medicine. vol 243. issue 6. 1998-08-13. PMID:9681855. |
von hippel-lindau disease (vhl) is caused by germline mutations in the vhl tumour suppressor gene. |
1998-08-13 |
2023-08-12 |
Not clear |