| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Beatriz González-Rodríguez, Karina Villar Gómez de Las Heras, Daniel T Aguirre, Luis Rodríguez-Padial, Virginia Albiñana, Lucía Recio-Poveda, Angel M Cuesta, Luisa Mª Botella, Rosa María Jiménez-Escriban. Evaluation of the safety and effectiveness of oral propranolol in patients with von Hippel-Lindau disease and retinal hemangioblastomas: phase III clinical trial. BMJ open ophthalmology. vol 4. issue 1. 2020-10-01. PMID:31245608. |
von hippel-lindau disease (vhl) is a multisystem cancer syndrome caused by mutations in the |
2020-10-01 |
2023-08-13 |
Not clear |
| Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C Jansen, Vera Van Velthoven, Sven Gläske. Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes. Hereditary cancer in clinical practice. vol 16. 2020-09-30. PMID:29312473. |
to explore the prevalence and rate of gadolinium accumulation in different subgroups, we retrospectively analyzed mris of patients with von hippel-lindau disease (vhl) and tuberous sclerosis complex (tsc). |
2020-09-30 |
2023-08-13 |
Not clear |
| Yutaka Endo, Minoru Kitago, Akira Miyajima, Isao Kurihara, Kaori Kameyama, Masahiro Shinoda, Hiroshi Yagi, Yuta Abe, Taizo Hibi, Chisato Takagi, Yutaka Nakano, Wataru Koizumi, Osamu Itano, Yuko Kitagaw. Two-stage resection of a bilateral pheochromocytoma and pancreatic neuroendocrine tumor in a patient with von Hippel-Lindau disease: A case report. International journal of surgery case reports. vol 44. 2020-09-30. PMID:29501019. |
von hippel-lindau disease (vhl disease) is a hereditary disease in which tumors and cysts develop in many organs, in association with central nervous system hemangioblastomas, pheochromocytomas, and pancreatic tumors. |
2020-09-30 |
2023-08-13 |
Not clear |
| V T S Kaluarachchi, Uditha Bulugahapitiya, Maulee Arambewela, Sonali Gunathilak. Successful Management of Pheochromocytoma Detected in Pregnancy by Interval Adrenalectomy in a VHL Patient. Case reports in endocrinology. vol 2018. 2020-09-30. PMID:30105106. |
subsequent follow up revealed cerebellar hemangioblastomas and retinal angioma in the right eye which led to a clinical diagnosis of von hippel lindau disease (vhl). |
2020-09-30 |
2023-08-13 |
Not clear |
| V T S Kaluarachchi, Uditha Bulugahapitiya, Maulee Arambewela, Sonali Gunathilak. Successful Management of Pheochromocytoma Detected in Pregnancy by Interval Adrenalectomy in a VHL Patient. Case reports in endocrinology. vol 2018. 2020-09-30. PMID:30105106. |
even though clinical criteria for von hippel lindau disease were fulfilled, her vhl genetic test was negative. |
2020-09-30 |
2023-08-13 |
Not clear |
| Baoan Hong, Kaifang Ma, Jingcheng Zhou, Jiufeng Zhang, Jiangyi Wang, Shengjie Liu, Zhongyuan Zhang, Lin Cai, Ning Zhang, Kan Gon. Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease. Frontiers in genetics. vol 10. 2020-09-30. PMID:31620170. |
frequent mutations of vhl gene and the clinical phenotypes in the largest chinese cohort with von hippel-lindau disease. |
2020-09-30 |
2023-08-13 |
Not clear |
| Sven Gläsker, Evelynn Vergauwen, Christian A Koch, Alexander Kutikov, Alexander O Vortmeye. Von Hippel-Lindau Disease: Current Challenges and Future Prospects. OncoTargets and therapy. vol 13. 2020-09-28. PMID:32606780. |
the molecular basis of von hippel-lindau disease is the loss of function of the vhl protein and subsequent accumulation of hypoxia-inducible factor with downstream effects on cellular metabolism and differentiation. |
2020-09-28 |
2023-08-13 |
human |
| Jennifer L Geurt. Inherited syndromes involving pancreatic neuroendocrine tumors. Journal of gastrointestinal oncology. vol 11. issue 3. 2020-09-28. PMID:32655935. |
although most pnets are sporadic, approximately 10% are due to an inherited syndrome, which include multiple endocrine neoplasia type 1 (men1), multiple endocrine neoplasia type 4 (men4), von hippel-lindau disease (vhl), neurofibromatosis type 1 (nf1), and tuberous sclerosis complex (tsc). |
2020-09-28 |
2023-08-13 |
Not clear |
| Guobing Lin, Yihua Zhao, Zhewei Zhang, Huijiang Zhan. Clinical diagnosis, treatment and screening of the VHL gene in three von Hippel-Lindau disease pedigrees. Experimental and therapeutic medicine. vol 20. issue 2. 2020-09-28. PMID:32742360. |
clinical diagnosis, treatment and screening of the vhl gene in three von hippel-lindau disease pedigrees. |
2020-09-28 |
2023-08-13 |
Not clear |
| Muhammad Faiyaz-Ul-Haque, Masood Jamil, Muhammad Aslam, Halah Abalkhail, Fouad Al-Dayel, Sulman Basit, Zafar Nawaz, Syed H E Zaid. Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease. Cancer genetics. vol 243. 2020-09-21. PMID:32179488. |
novel and recurrent germline mutations in the vhl gene in 5 arab patients with von hippel-lindau disease. |
2020-09-21 |
2023-08-13 |
Not clear |
| Yasser Salama, Saleh Albanyan, Marta Szybowska, Garrett Bullivant, Bailey Gallinger, Rachel H Giles, Sylvia Asa, Chansonette Badduke, Andreea Chiorean, Harriet Druker, Shereen Ezzat, Fady Hannah-Shmouni, Karen G Hernandez, Cara Inglese, Payal Jani, Yuvreet Kaur, Hatem Krema, Lior Krimus, Normand Laperriere, Zsuzanna Lichner, Ozgur Mete, Marisa Sit, Gelareh Zadeh, Michael A S Jewett, David Malkin, Tracy Stockley, Jonathan D Wasserman, Wei Xu, Nathan F Schachter, Raymond H Ki. Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients. Clinical genetics. vol 96. issue 5. 2020-08-31. PMID:31368132. |
von hippel-lindau disease (vhl) is a heritable condition caused by pathogenic variants in vhl and is characterized by benign and malignant lesions in the central nervous system (cns) and abdominal viscera. |
2020-08-31 |
2023-08-13 |
Not clear |
| Lucie Coppin, Pascal Plouvier, Michel Crépin, Anne-Sophie Jourdain, Emilie Ait Yahya, Stéphane Richard, Brigitte Bressac-de Paillerets, Catherine Cardot-Bauters, Sophie Lejeune, Julie Leclerc, Pascal Pign. Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods. The Journal of molecular diagnostics : JMD. vol 21. issue 3. 2020-06-18. PMID:30731206. |
von hippel-lindau disease (vhl) is a monogenic disorder characterized by the development of tumors affecting the central nervous system, kidney, pancreas, or adrenal glands, and due to germline mutations in the vhl tumor suppressor gene. |
2020-06-18 |
2023-08-13 |
Not clear |
| Elizabeth G Grubbs, Daniel M Halperin, Steven G Waguespack, Robert F Gage. History of the multiple endocrine neoplasia workshops and overview of MEN2019. Endocrine-related cancer. 2020-06-08. PMID:32508314. |
importantly, these workshops were instrumental in efforts to define the molecular basis for multiple endocrine neoplasia type 1 (men1), men2, von hippel-lindau disease (vhl), carney complex, hereditary pheochromocytoma and hyperparathyroidism. |
2020-06-08 |
2023-08-13 |
Not clear |
| Shahida K Flores, Ziming Cheng, Angela M Jasper, Keiko Natori, Takahiro Okamoto, Akiyo Tanabe, Koro Gotoh, Hirotaka Shibata, Akihiro Sakurai, Takuya Nakai, Xiaojing Wang, Magnus Zethoven, Shiva Balachander, Yuichi Aita, William Young, Siyuan Zheng, Kazuhiro Takekoshi, Eijiro Nakamura, Richard W Tothill, Ricardo C T Aguiar, Patricia L M Dahi. A synonymous VHL variant in exon 2 confers susceptibility to familial pheochromocytoma and von Hippel-Lindau disease. The Journal of clinical endocrinology and metabolism. 2020-04-04. PMID:30946460. |
a synonymous vhl variant in exon 2 confers susceptibility to familial pheochromocytoma and von hippel-lindau disease. |
2020-04-04 |
2023-08-13 |
Not clear |
| Shahida K Flores, Ziming Cheng, Angela M Jasper, Keiko Natori, Takahiro Okamoto, Akiyo Tanabe, Koro Gotoh, Hirotaka Shibata, Akihiro Sakurai, Takuya Nakai, Xiaojing Wang, Magnus Zethoven, Shiva Balachander, Yuichi Aita, William Young, Siyuan Zheng, Kazuhiro Takekoshi, Eijiro Nakamura, Richard W Tothill, Ricardo C T Aguiar, Patricia L M Dahi. A synonymous VHL variant in exon 2 confers susceptibility to familial pheochromocytoma and von Hippel-Lindau disease. The Journal of clinical endocrinology and metabolism. 2020-04-04. PMID:30946460. |
von hippel-lindau disease, comprising renal cancer, hemangioblastoma and/or pheochromocytoma (pheo) is caused by missense or truncating variants of the vhl tumor suppressor gene, which is involved in degradation of hypoxia inducible factors (hifs). |
2020-04-04 |
2023-08-13 |
Not clear |
| Michelle S Burnette, Taylor S Mann, David J Berman, Truc-Anh T Nguye. Brain Tumor, Pheochromocytoma, and Pregnancy: A Case Report of a Cesarean Delivery in a Patient With Von Hippel-Lindau Disease. A&A practice. vol 13. issue 8. 2020-02-14. PMID:31206381. |
a young woman first diagnosed with von hippel-lindau disease (vhl) during pregnancy underwent an uncomplicated cesarean delivery despite having multiple classic vhl tumors, including a large cerebellopontine brain mass and vasoactive pheochromocytoma. |
2020-02-14 |
2023-08-13 |
Not clear |
| Faraz Farhadi, Moozhan Nikpanah, Xiaobai Li, Rolf Symons, Amir Pourmorteza, Maria J Merino, W Marston Linehan, Ashkan A Malayer. Germline VHL gene variant in patients with von Hippel-Lindau disease does not predict renal tumor growth. Abdominal radiology (New York). vol 43. issue 10. 2020-02-12. PMID:29525880. |
germline vhl gene variant in patients with von hippel-lindau disease does not predict renal tumor growth. |
2020-02-12 |
2023-08-13 |
Not clear |
| John M Kennedy, Xiaoming Wang, Komal R Plouffe, Saravana M Dhanasekaran, Khaled Hafez, Ganesh S Palapattu, Tobias Else, Alon Z Weizer, Todd M Morgan, Daniel E Spratt, Matthew S Davenport, Arul M Chinnaiyan, Aaron M Udager, Rohit Mehr. Clinical and morphologic review of 60 hereditary renal tumors from 30 hereditary renal cell carcinoma syndrome patients: lessons from a contemporary single institution series. Medical oncology (Northwood, London, England). vol 36. issue 9. 2020-01-10. PMID:31332543. |
the present study is a retrospective clinical and morphologic review of 60 hereditary renal tumors from 30 hrccs patients treated at our institution with either von hippel-lindau disease (vhl), birt-hogg-dubé syndrome (bhd), tuberous sclerosis complex (tsc), hereditary leiomyomatosis and renal cell cancer syndrome, or succinate dehydrogenase (sdh) deficiency syndrome. |
2020-01-10 |
2023-08-13 |
Not clear |
| Ting Shen, Zhengping Zhuang, Deborash J. Gersell, Fattaneh A. Tavassol. Allelic Deletion of VHL Gene Detected in Papillary Tumors of the Broad Ligament, Epididymis, and Retroperitoneum in von Hippel-Lindau Disease Patients. International journal of surgical pathology. vol 8. issue 3. 2019-11-20. PMID:11493991. |
allelic deletion of vhl gene detected in papillary tumors of the broad ligament, epididymis, and retroperitoneum in von hippel-lindau disease patients. |
2019-11-20 |
2023-08-12 |
Not clear |
| Anna Babinska, Michał Studniarek, Renata Świątkowska-Stodulska, Krzysztof Sworcza. Sunitinib treatment for multifocal renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (NET) in patient with Von Hippel-Lindau disease. Case Report. Neuro endocrinology letters. vol 36. issue 6. 2019-11-20. PMID:26812297. |
von hippel-lindau disease (vhl) is an autosomal, dominant, hereditary disease occurring in approximately one in 36,000 births. |
2019-11-20 |
2023-08-13 |
Not clear |