| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Klaus-Martin Kreuse. Ophthalmological manifestations in VHL and NF 1: pathological and diagnostic implications. Familial cancer. vol 4. issue 1. 2005-09-13. PMID:15883709. |
von hippel-lindau disease (vhl) and neurofibromatosis type 1 (nf 1) are hereditary multitumor syndromes that show associated ocular manifestations. |
2005-09-13 |
2023-08-12 |
Not clear |
| Masayasu Kato, Naoyuki Ohe, Ayumi Okumura, Jun Shinoda, Asuka Nomura, Taro Shuin, Noboru Saka. Hemangioblastomatosis of the central nervous system without von Hippel-Lindau disease: a case report. Journal of neuro-oncology. vol 72. issue 3. 2005-08-17. PMID:15937651. |
we report a very rare case of hemangioblastomatosis in a patient without von hippel-lindau disease (vhl). |
2005-08-17 |
2023-08-12 |
Not clear |
| Timothy W A Vogel, Frederieke M Brouwers, Irina A Lubensky, Alexander O Vortmeyer, Robert J Weil, McClellan M Walther, Edward H Oldfield, W Marston Linehan, Karel Pacak, Zhengping Zhuan. Differential expression of erythropoietin and its receptor in von hippel-lindau-associated and multiple endocrine neoplasia type 2-associated pheochromocytomas. The Journal of clinical endocrinology and metabolism. vol 90. issue 6. 2005-07-05. PMID:15769989. |
pheochromocytoma is a neuroendocrine tumor associated with a variety of genetic disorders, which include von hippel-lindau disease (vhl), multiple endocrine neoplasia type 2 (men 2), neurofibromatosis type 1, hereditary paraganglioma, and succinate dehydrogenase gene-related tumors. |
2005-07-05 |
2023-08-12 |
Not clear |
| Ronald R de Krijge. Endocrine tumor syndromes in infancy and childhood. Endocrine pathology. vol 15. issue 3. 2005-06-02. PMID:15640547. |
in this short review article, the dominantly inherited tumor syndromes multiple endocrine neoplasia type 1 (men1), caused by mutations in the menin gene, type 2 (men2), caused by mutations in the ret protooncogene, and von hippel-lindau disease (vhl), caused by vhl gene abnormalities including mutations, are discussed with an emphasis on the age and mode of presentation of the constituent tumors. |
2005-06-02 |
2023-08-12 |
Not clear |
| Hartmut P H Neumann, Markus Cybulla, Hirotaka Shibata, Mototsugu Oya, Mitsuhide Naruse, Eiji Higashihara, Toshiro Terachi, Hao Ling, Hiroshi Takami, Taro Shuin, Masaru Mura. New genetic causes of pheochromocytoma: current concepts and the clinical relevance. The Keio journal of medicine. vol 54. issue 1. 2005-05-18. PMID:15832076. |
about 10 years known are the ret gene susceptible for multiple endocrine neoplasia type 2, the vhl gene for von hippel-lindau disease, and the nf 1 gene for neurofibromatosis recklinghausen (neuro- fibromatosis type 1). |
2005-05-18 |
2023-08-12 |
Not clear |
| Markus Joerger, Dieter Koeberle, Hartmut P H Neumann, Silke Gillesse. Von Hippel-Lindau disease--a rare disease important to recognize. Onkologie. vol 28. issue 3. 2005-04-26. PMID:15772467. |
von hippel-lindau disease (vhl) is an autosomal dominant multisystemic cancer syndrome due to a mutation of the vhl tumor suppressor gene on chromosome 3, region p25-26, with an incidence of 1/36,000 in newborns. |
2005-04-26 |
2023-08-12 |
Not clear |
| Mana M Parast, Grant Eudy, Kenneth W Gow, Mahul Amin, Bahig Shehat. A unique case of renal carcinoma with Xp11.2 translocations/ TFE3 gene fusions in a 3-year-old child, with coexistent von Hippel-Lindau gene mutation. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. vol 7. issue 4. 2005-02-22. PMID:15383938. |
interestingly, sequencing of the patient's vhl gene revealed a single point mutation, previously seen in a subgroup of patients with von hippel-lindau disease. |
2005-02-22 |
2023-08-12 |
Not clear |
| N Alexakis, S Connor, P Ghaneh, M Lombard, H L Smart, J Evans, M Hughes, C J Garvey, J Vora, S Vinjamuri, R Sutton, J P Neoptolemo. Hereditary pancreatic endocrine tumours. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. vol 4. issue 5. 2005-02-02. PMID:15249710. |
the two main types of hereditary pancreatic neuroendocrine tumours are found in multiple endocrine neoplasia type 1 (men-1) and von hippel-lindau disease (vhl), but also in the rarer disorders of neurofibromatosis type 1 and tuberous sclerosis. |
2005-02-02 |
2023-08-12 |
Not clear |
| A Patócs, E Karádi, M Tóth, I Varga, N Szücs, K Balogh, J Majnik, E Gláz, K Rác. Clinical and biochemical features of sporadic and hereditary phaeochromocytomas: an analysis of 41 cases investigated in a single endocrine centre. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP). vol 13. issue 5. 2005-01-25. PMID:15452453. |
forty-one (6.7%) of the 609 patients had phaeochromocytomas, of which 28 were sporadic (25 benign and three malignant) and 13 (all benign) were associated with hereditary diseases (multiple endocrine neoplasia type 2a in seven cases from four unrelated families carrying mutations of the ret gene, von hippel-lindau disease in two unrelated cases with mutations of the vhl gene, and type 1 neurofibromatosis in four unrelated cases). |
2005-01-25 |
2023-08-12 |
Not clear |
| J Schipper, W Maier, S Rosahl, A Berlis, R Laszi. [Tumour staged surgery of endolymphatic sac tumors (ELST)]. Laryngo- rhino- otologie. vol 83. issue 8. 2004-12-07. PMID:15316888. |
elst might occur solitarily and sporadically as well as hereditary connected to von hippel-lindau disease (vhl). |
2004-12-07 |
2023-08-12 |
Not clear |
| Sarah R McWhinney, Robert T Pilarski, Shawnia R Forrester, Michael C Schneider, M Marta Sarquis, Eduardo P Dias, Charis En. Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. The Journal of clinical endocrinology and metabolism. vol 89. issue 11. 2004-12-02. PMID:15531530. |
these neuroendocrine tumors are major components of three inherited cancer syndromes: multiple endocrine neoplasia type 2, von hippel-lindau disease (vhl), and pheochromocytoma/paraganglioma syndrome (pc/pgl). |
2004-12-02 |
2023-08-12 |
Not clear |
| Hilde Dannenberg, Paul Komminoth, Winand N M Dinjens, Ernst Jan M Speel, Ronald R de Krijge. Molecular genetic alterations in adrenal and extra-adrenal pheochromocytomas and paragangliomas. Endocrine pathology. vol 14. issue 4. 2004-09-23. PMID:14739490. |
about 10% of the patients with pheochromocytomas and paragangliomas present with a family history of von hippel-lindau disease (vhl), multiple endocrine neoplasia type 2 (men2), one of the three familial paraganglioma syndromes (pgl; pgl1, pgl3, pgl4), or neurofibromatosis type 1 (nf1). |
2004-09-23 |
2023-08-12 |
human |
| Kazuo Tamura, Joji Utsunomiya, Takehira Yamamur. [Familial tumor syndrome and ectopic hormone-producing tumors]. Nihon rinsho. Japanese journal of clinical medicine. vol 62. issue 5. 2004-07-27. PMID:15148809. |
among endocrine neoplasia, multiple endocrine neoplasia type 1 (men1), multiple endocrine neoplasia type 2 (men2), von hippel-lindau disease(vhl) are well defined genetic disorder with autosomal dominant inheritance, and the reliable genes were previously identified as men1, ret, and vhl, respectively. |
2004-07-27 |
2023-08-12 |
Not clear |
| Yi-Ran Huang, Jin Zhang, Jing-Ding Wang, Xiao-Dong Fa. Genetic study of a large Chinese kindred with von Hippel-Lindau disease. Chinese medical journal. vol 117. issue 4. 2004-07-08. PMID:15109448. |
this study was to show the clinical characteristics of a large chinese kindred with von hippel-lindau disease and to evaluate the role of the genetic test of vhl disease in the diagnosis of vhl disease and clinical screening of members of the vhl disease family. |
2004-07-08 |
2023-08-12 |
Not clear |
| William G Kaeli. The von Hippel-Lindau gene, kidney cancer, and oxygen sensing. Journal of the American Society of Nephrology : JASN. vol 14. issue 11. 2004-04-08. PMID:14569079. |
this review summarizes the current knowledge of the molecular pathogenesis of von hippel-lindau disease and the role of the vhl gene product (pvhl) in kidney cancer and the mammalian oxygen sensing pathway. |
2004-04-08 |
2023-08-12 |
Not clear |
| Jodi K Maranchie, Anoushka Afonso, Paul S Albert, Sivaram Kalyandrug, John L Phillips, Shubo Zhou, James Peterson, Bijan M Ghadimi, Katheen Hurley, Joseph Riss, James R Vasselli, Thomas Ried, Berton Zbar, Peter Choyke, McClellan M Walther, Richard D Klausner, W Marston Lineha. Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. Human mutation. vol 23. issue 1. 2004-03-09. PMID:14695531. |
von hippel lindau disease (vhl) is an autosomal dominant familial cancer syndrome linked to alteration of the vhl tumor suppressor gene. |
2004-03-09 |
2023-08-12 |
Not clear |
| P E North, A Mizeracki, M C Mihm, R E Mra. GLUT1 immunoreaction patterns reliably distinguish hemangioblastoma from metastatic renal cell carcinoma. Clinical neuropathology. vol 19. issue 3. 2003-12-05. PMID:14606586. |
both occur in middle age, and both occur with increased incidence in von hippel-lindau disease (vhl). |
2003-12-05 |
2023-08-12 |
Not clear |
| Tamotsu Kuroki, Francesco Trapasso, Sai Yendamuri, Ayumi Matsuyama, Hansjuerg Alder, Masaki Mori, Carlo M Croc. Allele loss and promoter hypermethylation of VHL, RAR-beta, RASSF1A, and FHIT tumor suppressor genes on chromosome 3p in esophageal squamous cell carcinoma. Cancer research. vol 63. issue 13. 2003-08-25. PMID:12839965. |
we examined the promoter methylation status of von hippel-lindau disease (vhl), retinoic acid receptor beta (rar-beta), ras association domain family 1a (rassf1a), and fragile histidine triad (fhit) genes in 22 esophageal squamous cell carcinoma cell lines and 47 primary tumors and corresponding noncancerous tissues by a methylation-specific pcr. |
2003-08-25 |
2023-08-12 |
Not clear |
| Russell R Lonser, Gladys M Glenn, McClellan Walther, Emily Y Chew, Steven K Libutti, W Marston Linehan, Edward H Oldfiel. von Hippel-Lindau disease. Lancet (London, England). vol 361. issue 9374. 2003-07-10. PMID:12814730. |
von hippel-lindau disease is a heritable multisystem cancer syndrome that is associated with a germline mutation of the vhl tumour suppressor gene on the short arm of chromosome 3. |
2003-07-10 |
2023-08-12 |
Not clear |
| 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 type 2a in a family with a duplicated 21-base-pair in-frame insertion mutation in the vhl gene. |
2003-07-01 |
2023-08-12 |
Not clear |