| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Angelica Malinoc, Maren Sullivan, Thorsten Wiech, Kurt Werner Schmid, Cordula Jilg, Joern Straeter, Serdar Deger, Michael M Hoffmann, Alexander Bosse, Gerd Rasp, Charis Eng, Hartmut P H Neuman. Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3. Endocrine-related cancer. vol 19. issue 3. 2012-09-07. PMID:22351710. |
important heritable syndromes of rcc are those associated with pheochromocytoma, especially von hippel-lindau disease (vhl) associated with germline vhl mutations, and pheochromocytoma and paraganglioma syndrome (pgl) associated with mutations in one of the four genes (sdha-d) encoding succinate dehydrogenase. |
2012-09-07 |
2023-08-12 |
Not clear |
| Mingyi Chen, Michael Van Ness, Yangtong Guo, Jeffrey Greg. Molecular pathology of pancreatic neuroendocrine tumors. Journal of gastrointestinal oncology. vol 3. issue 3. 2012-09-06. PMID:22943010. |
most pets are sporadic, however, some of them, may occur as part of familial tumors (inherited syndromes) such as multiple endocrine neoplasia type 1 (men1 syndrome), von hippel-lindau disease (vhl), neurofibromatosis type 1 (nf-1), and tuberous sclerosis (tsc). |
2012-09-06 |
2023-08-12 |
Not clear |
| Pengjie Wu, Ning Zhang, Xi Wang, Xianghui Ning, Teng Li, Dingfang Bu, Kan Gon. Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. Journal of human genetics. vol 57. issue 4. 2012-08-13. PMID:22357542. |
family history of von hippel-lindau disease was uncommon in chinese patients: suggesting the higher frequency of de novo mutations in vhl gene in these patients. |
2012-08-13 |
2023-08-12 |
Not clear |
| Takeshi Asakawa, Mariko Esumi, Sohei Endo, Akinori Kida, Minoru Iked. A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report. BMC medical genetics. vol 13. 2012-07-16. PMID:22462637. |
von hippel-lindau disease (vhl) is a dominantly inherited familial cancer syndrome predisposing the patient to a variety of malignant and benign neoplasms, most frequently hemangioblastoma, renal cell carcinoma, pheochromocytoma, and pancreatic tumors. |
2012-07-16 |
2023-08-12 |
Not clear |
| Yulun Huang, Dai Zhou, Jiangang Liu, Peng Zhou, Xiangdong Li, Zhong Wan. Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease. International journal of molecular medicine. vol 29. issue 1. 2012-05-07. PMID:21972040. |
germline mutations of the vhl gene in seven chinese families with von hippel-lindau disease. |
2012-05-07 |
2023-08-12 |
Not clear |
| Lauren Fishbein, Katherine L Nathanso. Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer genetics. vol 205. issue 1-2. 2012-05-07. PMID:22429592. |
mutations in three genes causing well characterized tumor syndromes are associated with an increased risk of developing pccs and pgls, including vhl (von hippel-lindau disease), nf1 (neurofibromatosis type 1), and ret (multiple endocrine neoplasia type 2). |
2012-05-07 |
2023-08-12 |
Not clear |
| Joshua J Wind, Russell R Lonse. Management of von Hippel-Lindau disease-associated CNS lesions. Expert review of neurotherapeutics. vol 11. issue 10. 2012-02-10. PMID:21955200. |
patients with von hippel-lindau disease (vhl) often harbor significant disease burden within the cns, specifically craniospinal-axis hemangioblastomas and endolymphatic sac tumors (elsts). |
2012-02-10 |
2023-08-12 |
Not clear |
| Mio Kitano, Corina Millo, Reza Rahbari, Peter Herscovitch, Krisana Gesuwan, Richard C Webb, Aradhana M Venkatesan, Giao Q Phan, Marybeth S Hughes, Steven K Libutti, Naris Nilubol, William M Linehan, Electron Kebebe. Comparison of 6-18F-fluoro-L-DOPA, 18F-2-deoxy-D-glucose, CT, and MRI in patients with pancreatic neuroendocrine neoplasms with von Hippel-Lindau disease. Surgery. vol 150. issue 6. 2012-02-06. PMID:22136831. |
the aim of our study was to determine the accuracy of (18)f-dopa and (18)f-fdg to detect pnets in patients with von hippel-lindau disease (vhl). |
2012-02-06 |
2023-08-12 |
Not clear |
| David S Xu, Michael S Dirks, Martha M Quezado, Irina A Lubensky, Zhengping Zhuang, Russell R Lonser, Ashok R Asthagir. A von Hippel-Lindau disease-associated microcystic adenoma of the ethmoid sinus: case report. Neurosurgery. vol 69. issue 4. 2011-12-30. PMID:21572360. |
we present a unique case of an anterior cranial base von hippel-lindau disease (vhl)-associated microcystic neoplasm. |
2011-12-30 |
2023-08-12 |
Not clear |
| C R M Lammens, E M A Bleiker, S Verhoef, M G E M Ausems, D Majoor-Krakauer, R H Sijmons, F J Hes, E B Gómez-García, T A M Van Os, L Spruijt, R B van der Luijt, A M W van den Ouweland, M W G Ruijs, C Gundy, T Nagtegaal, N K Aaronso. Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes. Psycho-oncology. vol 20. issue 6. 2011-11-14. PMID:21384469. |
li fraumeni syndrome (lfs) and von hippel-lindau disease (vhl) are two rare hereditary tumor syndromes, characterized by a high risk of developing multiple tumors at various sites and ages for which preventive and treatment options are limited. |
2011-11-14 |
2023-08-12 |
Not clear |
| b' Clara Limb\\xc3\\xa4ck Stokin, Damjan Glava\\xc4\\x8d, Mara Popovi\\xc4\\x8. A case of haemangioblastoma of the fourth ventricle presenting with depression. BMJ case reports. vol 2009. 2011-11-10. PMID:21686398.' |
in about 20% of the cases habs are associated with the hereditary disorder known as von hippel-lindau disease (vhl). |
2011-11-10 |
2023-08-12 |
Not clear |
| Melpomeni Peppa, Smaragda Kamakari, Eleni Boutati, Panagiotis Nikolopoulos, Christoforos Giatzakis, Theofanis Economopoulos, Dimitrios Hadjidakis, Sotirios A Rapti. A novel germline mutation of the VHL gene in a Greek family with Von Hippel-Lindau disease. BMJ case reports. vol 2009. 2011-11-10. PMID:21853002. |
a novel germline mutation of the vhl gene in a greek family with von hippel-lindau disease. |
2011-11-10 |
2023-08-12 |
Not clear |
| Melpomeni Peppa, Smaragda Kamakari, Eleni Boutati, Panagiotis Nikolopoulos, Christoforos Giatzakis, Theofanis Economopoulos, Dimitrios Hadjidakis, Sotirios A Rapti. A novel germline mutation of the VHL gene in a Greek family with Von Hippel-Lindau disease. BMJ case reports. vol 2009. 2011-11-10. PMID:21853002. |
von hippel-lindau disease (vhl) is an autosomal dominant disorder, caused by mutations of the vhl gene showing a strong genotype-phenotype correlation. |
2011-11-10 |
2023-08-12 |
Not clear |
| Eamonn R Maher, Hartmut Ph Neumann, Stéphane Richar. von Hippel-Lindau disease: a clinical and scientific review. European journal of human genetics : EJHG. vol 19. issue 6. 2011-09-13. PMID:21386872. |
the autosomal dominantly inherited disorder von hippel-lindau disease (vhl) is caused by germline mutations in the vhl tumour suppressor gene (tsg). |
2011-09-13 |
2023-08-12 |
Not clear |
| Cezary Cybulski, Joanna Matyjasik, Marianna Soroka, Janusz Szymaś, Bohdan Górski, Tadeusz Debniak, Anna Jakubowska, Andrzej Bernaczyk, Lech Zimnoch, Grazyna Bierzyńska-Macyszyn, Tomasz Trojanowski, Teresa Wierzba-Bobrowicz, Edmund Prudlak, Alicja Markowska-Wojciechowska, Przemysław Nowacki, Andrzej Roszkiewicz, Radzisław Kordek, Tadeusz Szylberg, Ewa Matyja, Krzysztof Zieliński, Bogdan Woźniewicz, Anna Taraszewska, Wojciech Kozłowski, Jan Lubińsk. Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas. Hereditary cancer in clinical practice. vol 2. issue 2. 2011-07-14. PMID:20233476. |
most tumours are sporadic, but as many as one third of chabs occur in the course of the hereditary disorder - von hippel-lindau disease (vhl). |
2011-07-14 |
2023-08-12 |
Not clear |
| Tanja Grkovic, Emily L Whitson, Daniel C Rabe, Roberta S Gardella, Donald P Bottaro, W Marston Linehan, James B McMahon, Kirk R Gustafson, Tawnya C McKe. Identification and evaluation of soft coral diterpenes as inhibitors of HIF-2α induced gene expression. Bioorganic & medicinal chemistry letters. vol 21. issue 7. 2011-07-11. PMID:21353547. |
loss of function of the vhl tumor suppressor gene (von hippel-lindau disease) dramatically increases the risk of developing clear cell kidney cancer. |
2011-07-11 |
2023-08-12 |
Not clear |
| Hong Jiang, Yu-ting Shi, Jun-ling Wang, Bei-sha Tang, Jun-yu Wang, Ze-feng Peng, De-sheng Xia. A rare Von Hippel-Lindau disease that mimics acute myelitis: case report and review of the literature. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 32. issue 2. 2011-07-07. PMID:20927563. |
von hippel-lindau disease (vhl) comprises a series of complicated clinical manifestations. |
2011-07-07 |
2023-08-12 |
Not clear |
| Laura von Dücker, Martin K Walz, Christian Voss, Georg Arnold, Charis Eng, Hartmut P H Neuman. Laparoscopic organ-sparing resection of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors. World journal of surgery. vol 35. issue 3. 2011-06-20. PMID:21181474. |
pancreatic neuroendocrine tumors (pnets) are a characteristic feature of the tumor syndromes multiple endocrine neoplasia type 1 (men-1) and von hippel-lindau disease (vhl). |
2011-06-20 |
2023-08-12 |
Not clear |
| Margarita Raygada, Barbara Pasini, Constantine A Strataki. Hereditary paragangliomas. Advances in oto-rhino-laryngology. vol 70. 2011-05-31. PMID:21358191. |
less frequently, mutations in the genes responsible for von hippel lindau disease (vhl), multiple endocrine neoplasia type 2 (men2), and neurofibromatosis type 1 (nf1) are also found in patients with hereditary pgl and pcc. |
2011-05-31 |
2023-08-12 |
Not clear |
| Toshihiko Matsuo, Kengo Himei, Kouichi Ichimura, Hiroyuki Yanai, Soichiro Nose, Tetsushige Mimura, Yasuyuki Miyoshi, Tomoyasu Tsushim. Long-term effect of external beam radiotherapy of optic disc hemangioma in a patient with von Hippel-Lindau disease. Acta medica Okayama. vol 65. issue 2. 2011-05-19. PMID:21519372. |
an 18-year-old woman with a 2-year history of hypertension and headache was diagnosed with noradrenalin-secreting bilateral adrenal pheochromocytomas with paragangliomas in the background of von hippel-lindau disease with family histories and a missense mutation, 712c to t (arg167trp) in the vhl gene. |
2011-05-19 |
2023-08-12 |
Not clear |