Last Posted: Jan 03, 2021
- The Genotype-Phenotype Association of Von Hipple Lindau Disease Based on Mutation Locations: A Retrospective Study of 577 Cases in a Chinese Population.
Qiu Jianhui, et al. Frontiers in genetics 2020 0 532588
- Management of Individuals at Increased Hereditary Risk
- CLINGEN Actionability Report for Von Hippel-Lindau Syndrome - VHL
ClinGen Actionability Working Group
- Psychological impact of von Hippel-Lindau genetic screening in patients with a previous history of hemangioblastoma of the central nervous system.
Rochette Claire et al. Journal of psychosocial oncology 2018 May 1-11
- 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
- Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family.
Kinyas S, et al. Balkan journal of medical genetics : BJMG 2015 12 (2) 65-70
- VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.
Mathó Cecilia, et al. Genetic testing and molecular biomarkers 2016 9
- Survival and causes of death in patients with von Hippel-Lindau disease.
Binderup Marie Louise Mølgaard, et al. Journal of medical genetics 2016 8
- Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
Wong Meihua, et al. Chinese journal of cancer 2016 0 (1) 79
- Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-a binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
Lee Jee-Soo, et al. BMC medical genetics 2016 0 (1) 48
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.