| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yasuhiro Miyagawa, Mitsuru Nakazawa, Yasuko Noda, Shoichi Ito, Hiroshi Ohgur. von Hippel-Lindau disease type 2A in a family with a duplicated 21-base-pair in-frame insertion mutation in the VHL gene. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. vol 241. issue 3. 2003-07-01. PMID:12644949. |
von hippel-lindau disease (vhl), also called angiomatosis retinae, is inherited as an autosomal dominant trait. |
2003-07-01 |
2023-08-12 |
Not clear |
| Wojciech Lubiński, Karol Krzystolik, Cezary Cybulski, Zbigniew Szych, Krzysztof Penkala, Olgierd Palacz, Jan Lubińsk. Retinal function in the von Hippel-Lindau disease. Documenta ophthalmologica. Advances in ophthalmology. vol 106. issue 3. 2003-06-09. PMID:12737505. |
to assess the retinal function in patients with von hippel-lindau disease (vhl). |
2003-06-09 |
2023-08-12 |
Not clear |
| H Kanno, I Yamamoto, M Yoshida, H Kitamur. Meningioma showing VHL gene inactivation in a patient with von Hippel-Lindau disease. Neurology. vol 60. issue 7. 2003-04-23. PMID:12682336. |
meningioma showing vhl gene inactivation in a patient with von hippel-lindau disease. |
2003-04-23 |
2023-08-12 |
Not clear |
| Eamonn R Maher, Charis En. The pressure rises: update on the genetics of phaeochromocytoma. Human molecular genetics. vol 11. issue 20. 2003-03-12. PMID:12351569. |
the most frequent causes of phaeochromocytoma susceptibility are von hippel-lindau disease (vhl), multiple endocrine neoplasia type 2 (men 2), the newly delineated phaeochromocytoma-paraganglioma syndrome and, less commonly, neurofibromatosis type 1. |
2003-03-12 |
2023-08-12 |
Not clear |
| Ralf-Bodo Tröbs, Peter Reichardt, Thomas Friedrich, Rainer Klöppel, Joachim Benne. Pheochromocytoma and multifocal functioning paraganglioma in a 9-year-old boy with von Hippel-Lindau disease. Urologia internationalis. vol 68. issue 4. 2003-02-25. PMID:12053037. |
von hippel-lindau disease (vhl) was diagnosed exclusively by vhl-gene analysis. |
2003-02-25 |
2023-08-12 |
Not clear |
| Alberto Cascon, Sergio Ruiz-Llorente, Arancha Cebrian, Dolores Telleria, Jose Carlos Rivero, Juan Jose Diez, Pablo J Lopez-Ibarra, Miguel Angel Jaunsolo, Javier Benitez, Mercedes Robled. Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. European journal of human genetics : EJHG. vol 10. issue 8. 2003-01-22. PMID:12111639. |
some hereditary phaeochromocytomas may be associated with germline mutations in vhl, ret and nf1 genes in genetic disorders such as von hippel-lindau disease (vhl), multiple endocrine neoplasia type 2 (men 2) and neurofibromatosis type 1 (nf 1), respectively. |
2003-01-22 |
2023-08-12 |
human |
| Minoru Yoshida, Masahiro Yao, Isao Ishikawa, Takeshi Kishida, Yoji Nagashima, Kei-ichi Kondo, Noboru Nakaigawa, Masahiko Hosak. Somatic von Hippel-Lindau disease gene mutation in clear-cell renal carcinomas associated with end-stage renal disease/acquired cystic disease of the kidney. Genes, chromosomes & cancer. vol 35. issue 4. 2003-01-14. PMID:12378530. |
to address the molecular pathogenesis of esrd/acdk-associated rccs, we examined 14 rccs (7 clear-cell and 7 papillary carcinomas) in patients receiving dialysis for somatic mutations of the von hippel-lindau disease (vhl) gene as well as of the tyrosine kinase domain of the met oncogene. |
2003-01-14 |
2023-08-12 |
Not clear |
| Mina I Zhou, Hongmei Wang, Jonathan J Ross, Igor Kuzmin, Chengen Xu, Herbert T Cohe. The von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1. The Journal of biological chemistry. vol 277. issue 42. 2002-12-19. PMID:12169691. |
the von hippel-lindau disease gene (vhl) is the causative gene for most adult renal cancers. |
2002-12-19 |
2023-08-12 |
human |
| Gregor Weirich, Bettina Klein, Thorsten Wöhl, Dieter Engelhardt, Hiltrud Brauc. VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. The Journal of clinical endocrinology and metabolism. vol 87. issue 11. 2002-12-09. PMID:12414898. |
von hippel-lindau disease (vhl) is a multitumor syndrome that develops on the basis of germline mutations in the vhl tumor suppressor gene. |
2002-12-09 |
2023-08-12 |
Not clear |
| Masahiro Yao, Minoru Yoshida, Takeshi Kishida, Noboru Nakaigawa, Masaya Baba, Kazuki Kobayashi, Takeshi Miura, Masatoshi Moriyama, Yoji Nagashima, Yukio Nakatani, Yoshinobu Kubota, Kei-Ichi Kond. VHL tumor suppressor gene alterations associated with good prognosis in sporadic clear-cell renal carcinoma. Journal of the National Cancer Institute. vol 94. issue 20. 2002-11-08. PMID:12381710. |
somatic alteration of the von hippel-lindau disease tumor suppressor gene (vhl) is one of the most common genetic changes observed in the sporadic, clear-cell subtype of renal cell carcinoma (rcc). |
2002-11-08 |
2023-08-12 |
Not clear |
| Louise A Rafty, Levon M Khachigia. von Hippel-Lindau tumor suppressor protein represses platelet-derived growth factor B-chain gene expression via the Sp1 binding element in the proximal PDGF-B promoter. Journal of cellular biochemistry. vol 85. issue 3. 2002-11-04. PMID:11967988. |
vhl is the causative gene for von hippel-lindau disease and sporadic clear cell renal cancer. |
2002-11-04 |
2023-08-12 |
cat |
| M Zatyka, C Morrissey, I Kuzmin, M I Lerman, F Latif, F M Richards, E R Mahe. Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter. Journal of medical genetics. vol 39. issue 7. 2002-09-05. PMID:12114475. |
the vhl gatekeeper tumour suppressor gene is inactivated in the familial cancer syndrome von hippel-lindau disease and in most sporadic clear cell renal cell carcinomas. |
2002-09-05 |
2023-08-12 |
human |
| J K Maranchie, M M Walthe. Early identification of patients with von Hippel-Lindau disease at risk for pheochromocytoma. Current urology reports. vol 2. issue 1. 2002-07-25. PMID:12084291. |
von hippel-lindau disease (vhl) is an autosomal dominant familial syndrome that predisposes to the formation of tumors in multiple organ systems, including adrenal and extra-adrenal pheochromocytomas. |
2002-07-25 |
2023-08-12 |
Not clear |
| Mercedeh Baghai, Geoffrey B Thompson, William F Young, Clive S Grant, Virginia V Michels, Jon A van Heerde. Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: a role for laparoscopic and cortical-sparing surgery. Archives of surgery (Chicago, Ill. : 1960). vol 137. issue 6. 2002-07-12. PMID:12049539. |
von hippel-lindau disease (vhl) is an autosomal-dominant disorder characterized by benign and malignant tumors involving the central nervous system, kidneys, pancreas, adrenal glands, and paraganglia. |
2002-07-12 |
2023-08-12 |
Not clear |
| Kari Hemminki, Yongwen Jiang, Xin Ma, Ke Yang, Lars Egevad, Per Lindbla. Molecular epidemiology of VHL gene mutations in renal cell carcinoma patients: relation to dietary and other factors. Carcinogenesis. vol 23. issue 5. 2002-06-21. PMID:12016154. |
the von hipple-lindau (vhl) gene is the tumor suppressor gene predisposing to both sporadic renal cell carcinoma (rcc) and von hippel-lindau disease. |
2002-06-21 |
2023-08-12 |
human |
| Peter Reichardt, Thomas W Apel, Manfred Domula, Ralf-Bodo Tröbs, Ingrid Krause, Uta Bierbach, Hartmut P H Neumann, Wieland Kies. Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene. Journal of pediatric hematology/oncology. vol 24. issue 2. 2002-06-04. PMID:11990703. |
pheochromocytomas are frequently associated with inherited cancer syndromes such as von hippel-lindau disease (vhl). |
2002-06-04 |
2023-08-12 |
Not clear |
| Hartmut P H Neumann, Birke Bausch, Sarah R McWhinney, Bernhard U Bender, Oliver Gimm, Gerlind Franke, Joerg Schipper, Joachim Klisch, Carsten Altehoefer, Klaus Zerres, Andrzej Januszewicz, Charis Eng, Wendy M Smith, Robin Munk, Tanja Manz, Sven Glaesker, Thomas W Apel, Markus Treier, Martin Reineke, Martin K Walz, Cuong Hoang-Vu, Michael Brauckhoff, Andreas Klein-Franke, Peter Klose, Heinrich Schmidt, Margarete Maier-Woelfle, Mariola Peçzkowska, Cesary Szmigielski, Charis En. Germ-line mutations in nonsyndromic pheochromocytoma. The New England journal of medicine. vol 346. issue 19. 2002-05-15. PMID:12000816. |
the group of susceptibility genes for pheochromocytoma that included the proto-oncogene ret (associated with multiple endocrine neoplasia type 2 [men-2]) and the tumor-suppressor gene vhl (associated with von hippel-lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit d (sdhd) and succinate dehydrogenase subunit b (sdhb), which predispose carriers to pheochromocytomas and glomus tumors. |
2002-05-15 |
2023-08-12 |
Not clear |
| Keiichi Kondo, Masahiro Yao, Minoru Yoshida, Takeshi Kishida, Taro Shuin, Takeshi Miura, Masatoshi Moriyama, Kazuki Kobayashi, Naoki Sakai, Shigeki Kaneko, Satoshi Kawakami, Masaya Baba, Noboru Nakaigawa, Yoji Nagashima, Yukio Nakatani, Masahiko Hosak. Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters. Genes, chromosomes & cancer. vol 34. issue 1. 2002-04-19. PMID:11921283. |
to delineate more precisely the somatic von hippel-lindau disease (vhl) gene alteration as well as to elucidate its etiologic role in renal tumorigenesis, we examined a total of 240 sporadic renal cell carcinomas (rccs) for somatic vhl gene alterations by dna-sscp followed by sequencing, methylation-specific pcr assay, microsatellite loh study, and southern blot analysis. |
2002-04-19 |
2023-08-12 |
Not clear |
| A D Singh, C L Shields, J A Shield. von Hippel-Lindau disease. Survey of ophthalmology. vol 46. issue 2. 2002-01-03. PMID:11578646. |
in recent years advances have been made in the clinical and genetic aspects of von hippel-lindau disease (vhl). |
2002-01-03 |
2023-08-12 |
Not clear |
| 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. |
phaeochromocytoma associated with a de novo vhl mutation as form fruste of von hippel-lindau disease. |
2001-12-07 |
2023-08-12 |
Not clear |