Von Hippel-lindau Disease
What's New
Last Posted: May 20, 2022
- Multidisciplinary integrated care pathway for von Hippel-Lindau disease.
Wolters Wendy P G et al. Cancer 2022 - Familial Neoplastic Syndromes.
Eaton Ryan G et al. Neurologic clinics 2022 40(2) 405-420 - Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Maher Eamonn R et al. British journal of cancer 2022 - Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease.
Jonasch Eric et al. The New England journal of medicine 2021 11 (22) 2036-2046 - Repeat ablative therapy in hereditary or multifocal renal cancer: Functional and oncological outcomes.
Gaillard Victor et al. Urologic oncology 2020 Aug - Inherited syndromes involving pancreatic neuroendocrine tumors.
Geurts Jennifer L et al. Journal of gastrointestinal oncology 2020 Jun 11(3) 559-566 - Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.
Coppin Lucie et al. The Journal of molecular diagnostics : JMD 2019 21(3) 462-470 - Structured assessment and followup for patients with hereditary kidney tumour syndromes.
Lattouf Jean-Baptiste et al. Canadian Urological Association journal = Journal de l'Association des urologues du Canada 10(7-8) E214-E222 - Clinical and morphologic review of 60 hereditary renal tumors from 30 hereditary renal cell carcinoma syndrome patients: lessons from a contemporary single institution series.
Kennedy John M et al. Medical oncology (Northwood, London, England) 2019 Jul 36(9) 74 - Management of Individuals at Increased Hereditary Risk
ASCO, 2018 - CLINGEN Actionability Report for Von Hippel-Lindau Syndrome - VHL
ClinGen Actionability Working Group - Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.
Maher Eamonn R et al. World journal of urology 2018 Apr - Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.
Nielsen Sarah M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jun 34(18) 2172-81 - Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma.
Hansen Morten Steen Svarer et al. Research and reports in urology 2017 9113-119 - Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Rednam Surya P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e68-e75 - Development of Database and Genomic Medicine for von Hippel-Lindau Disease in Japan.
Takayanagi Shunsaku et al. Neurologia medico-chirurgica 2017 Jan - Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.
Dommering Charlotte J et al. Familial cancer 2016 Nov - Von Hippel-Lindau disease
From NCATS Genetic and Rare Diseases Information Center
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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