| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Péter Gergics, Judit Toke, Agnes Szilágyi, Agnes Szappanos, Zoltán Kender, György Barta, Miklós Tóth, Péter Igaz, Károly Rácz, Attila Patóc. [Methods for the analysis of large gene deletions and their application in some hereditary diseases]. Orvosi hetilap. vol 150. issue 50. 2010-02-16. PMID:19951857. |
finally, authors present their own findings on large deletion testing of the vhl gene using quantitative real-time polymerase chain reaction and multiple ligation probe amplification in patients with von hippel-lindau disease and review a simple polymerase chain reaction method for the detection of large deletion of the cyp21a2 gene in patients with congenital adrenal hyperplasia. |
2010-02-16 |
2023-08-12 |
Not clear |
| Jin Zhang, Hai-ge Chen, Wei Xue, Li-xin Zhou, Yi-ran Huan. [Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 26. issue 5. 2010-01-15. PMID:19806577. |
to investigate the large germline deletion of the vhl gene in chinese families with von hippel-lindau disease (vhl). |
2010-01-15 |
2023-08-12 |
Not clear |
| Shirin Hasani-Ranjbar, Mahsa M Amoli, Azadeh Ebrahim-Habibi, Vahid Haghpanah, Maryam Hejazi, Akbar Soltani, Bagher Larijan. Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease. Familial cancer. vol 8. issue 4. 2010-01-08. PMID:19649731. |
mutation screening of vhl gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von hippel-lindau disease. |
2010-01-08 |
2023-08-12 |
Not clear |
| Goswin Y Meyer-Rochow, Janine M Smith, Anne-Louise Richardson, Deborah J Marsh, Stan B Sidhu, Bruce G Robinson, Diana E Ben. Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. The Journal of surgical research. vol 157. issue 1. 2009-11-12. PMID:19215943. |
pheochromocytomas are component tumors of the familial syndromes multiple endocrine neoplasia type 2, von hippel lindau disease, neurofibromatosis type 1, and the pheochromocytoma/paraganglioma syndromes caused by mutations in the ret, vhl, nf1, sdhb, and sdhd genes, respectively. |
2009-11-12 |
2023-08-12 |
Not clear |
| Peter Gergics, Attila Patocs, Miklos Toth, Peter Igaz, Nikolette Szucs, Istvan Liko, Ferenc Fazakas, Istvan Szabo, Balazs Kovacs, Edit Glaz, Karoly Rac. Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas. European journal of endocrinology. vol 161. issue 3. 2009-09-22. PMID:19574279. |
germline vhl gene mutations in hungarian families with von hippel-lindau disease and patients with apparently sporadic unilateral pheochromocytomas. |
2009-09-22 |
2023-08-12 |
Not clear |
| Gregory Jost, Stephan Zimmerer, Stephan Frank, Dominik Cordier, Adrian Merl. Intradural spinal metastasis of renal cell cancer. Report of a case and review of 26 published cases. Acta neurochirurgica. vol 151. issue 7. 2009-09-08. PMID:19415167. |
18 patients had sporadic renal cell carcinoma, and 9 patients had von hippel-lindau disease (vhl) in which the metastases of the renal cell carcinoma were embedded within spinal haemangioblastomas. |
2009-09-08 |
2023-08-12 |
Not clear |
| Gerlind Franke, Birke Bausch, Michael M Hoffmann, Markus Cybulla, Christian Wilhelm, Jürgen Kohlhase, Gerd Scherer, Hartmut P H Neuman. Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Human mutation. vol 30. issue 5. 2009-07-30. PMID:19280651. |
von hippel-lindau disease (vhl) is an autosomal dominant cancer syndrome. |
2009-07-30 |
2023-08-12 |
Not clear |
| Francien H van Nederveen, Esther Korpershoek, Ronald J deLeeuw, Albert A Verhofstad, Jacques W Lenders, Winand N M Dinjens, Wan L Lam, Ronald R de Krijge. Array-comparative genomic hybridization in sporadic benign pheochromocytomas. Endocrine-related cancer. vol 16. issue 2. 2009-07-16. PMID:19153209. |
pheochromocytomas (pcc) are catecholamine-producing tumors arising from the adrenal medulla that occur either sporadically or in the context of hereditary cancer syndromes, such as multiple endocrine neoplasia type 2 (men2), von hippel-lindau disease (vhl), neurofibromatosis type 1, and the pcc-paraganglioma syndrome. |
2009-07-16 |
2023-08-12 |
Not clear |
| Carsten C Boedeker, Zoran Erlic, Stéphane Richard, Udo Kontny, Anne-Paule Gimenez-Roqueplo, Alberto Cascon, Mercedes Robledo, José M de Campos, Francien H van Nederveen, Ronald R de Krijger, Nelly Burnichon, José Gaal, Martin A Walter, Kirsten Reschke, Thorsten Wiech, Johannes Weber, Klaus Rückauer, Pierre Francois Plouin, Vincent Darrouzet, Sophie Giraud, Charis Eng, Hartmut P H Neuman. Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. The Journal of clinical endocrinology and metabolism. vol 94. issue 6. 2009-07-02. PMID:19336503. |
heritable non-sdhx hnp might occur in von hippel-lindau disease (vhl, vhl gene), multiple endocrine neoplasia type 2 (men2, ret gene), and neurofibromatosis type 1 (nf1, nf1 gene). |
2009-07-02 |
2023-08-12 |
Not clear |
| Katja Knauth, Edward Cartwright, Stefan Freund, Mark Bycroft, Alexander Buchberge. VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. The Journal of biological chemistry. vol 284. issue 16. 2009-06-18. PMID:19228690. |
vhl mutations linked to type 2c von hippel-lindau disease cause extensive structural perturbations in pvhl. |
2009-06-18 |
2023-08-12 |
human |
| Kathryn E Hacker, Caroline Martz Lee, W Kimryn Rathmel. VHL type 2B mutations retain VBC complex form and function. PloS one. vol 3. issue 11. 2009-06-09. PMID:19030229. |
von hippel-lindau disease is characterized by a spectrum of hypervascular tumors, including renal cell carcinoma, hemangioblastoma, and pheochromocytoma, which occur with vhl genotype-specific differences in penetrance. |
2009-06-09 |
2023-08-12 |
Not clear |
| M Meister, P Choyke, C Anderson, U Pate. Radiological evaluation, management, and surveillance of renal masses in Von Hippel-Lindau disease. Clinical radiology. vol 64. issue 6. 2009-05-20. PMID:19414081. |
von hippel-lindau disease (vhl) is a rare, autosomal-dominant condition that predisposes patients to developing renal cysts and tumours. |
2009-05-20 |
2023-08-12 |
Not clear |
| Sapna Puri, David A Cano, Matthias Hebro. A role for von Hippel-Lindau protein in pancreatic beta-cell function. Diabetes. vol 58. issue 2. 2009-03-31. PMID:19033400. |
in humans, a germline mutation in the vhl gene leads to the von hippel-lindau disease, a familial syndrome characterized by benign and malignant tumors of the kidney, central nervous system, and pancreas. |
2009-03-31 |
2023-08-12 |
Not clear |
| Wei Jin, Li-min Wang, Ju-fen Zheng, Zheng Li, Yi-ran Huan. [The detection of mutations in VHL gene from a single cell in a patient with von Hippel-Lindau disease]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 24. issue 1. 2009-03-27. PMID:17285548. |
[the detection of mutations in vhl gene from a single cell in a patient with von hippel-lindau disease]. |
2009-03-27 |
2023-08-12 |
Not clear |
| Zoran Erlic, Hartmut P H Neuman. Familial pheochromocytoma. Hormones (Athens, Greece). vol 8. issue 1. 2009-03-26. PMID:19269919. |
von hippel-lindau disease (vhl)is found in about 20% of patients in association with pheochromocytoma. |
2009-03-26 |
2023-08-12 |
Not clear |
| Jin Zhang, Yiran Huang, Jiahua Pan, Dongming Liu, Lixin Zhou, Wei Xue, Qi Chen, Baijun Dong, Hanqing Xua. Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families. Journal of cancer research and clinical oncology. vol 134. issue 11. 2009-01-27. PMID:18446368. |
germline mutations in the von hippel-lindau disease (vhl) gene in mainland chinese families. |
2009-01-27 |
2023-08-12 |
Not clear |
| Sevim Akcaglar, Ismet Yavascaoglu, Hakan Vuruskan, Bulent Okta. Genetic evaluation of von Hippel-Lindau disease for early diagnosis and improved prognosis. International urology and nephrology. vol 40. issue 3. 2009-01-08. PMID:18074239. |
von hippel-lindau disease (vhl) is a rare autosomal-dominant disorder in which affected individuals develop tumors in a number of locations. |
2009-01-08 |
2023-08-12 |
Not clear |
| William G Kaeli. The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer. Nature reviews. Cancer. vol 8. issue 11. 2008-11-18. PMID:18923434. |
the von hippel-lindau disease is caused by inactivating germline mutations of the vhl tumour suppressor gene and is associated with an increased risk of a variety of tumours in an allele-specific manner. |
2008-11-18 |
2023-08-12 |
Not clear |
| Kendra L Thoren, Antonio G Balingit, Jerome Billingsle. Multiple pheochromocytomas in a patient with blurred vision. Clinical nuclear medicine. vol 33. issue 9. 2008-11-06. PMID:18716506. |
multiple imaging was obtained because of concern for von hippel-lindau disease (vhl) after bilateral retinal angiomas were discovered on ophthalmologic consultation as a follow-up from the emergency department. |
2008-11-06 |
2023-08-12 |
Not clear |
| Robert T Jensen, Marc J Berna, David B Bingham, Jeffrey A Norto. Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies. Cancer. vol 113. issue 7 Suppl. 2008-11-04. PMID:18798544. |
pancreatic endocrine tumors (pets) can occur as part of 4 inherited disorders, including multiple endocrine neoplasia type 1 (men1), von hippel-lindau disease (vhl), neurofibromatosis 1 (nf-1) (von recklinghausen disease), and the tuberous sclerosis complex (tsc). |
2008-11-04 |
2023-08-12 |
Not clear |