Gomez-Virgilio L, Velazquez-Paniagua M, Cuazozon-Ferrer L, Silva-Lucero M, Gutierrez-Malacara A, Padilla-Mendoza J
Diagnostics (Basel). 2024; 14(17).
PMID: 39272694
PMC: 11393980.
DOI: 10.3390/diagnostics14171909.
Azimi F, Naseripour M, Aghajani A, Kasraei H, Chaibakhsh S
BMC Ophthalmol. 2024; 24(1):343.
PMID: 39138406
PMC: 11323439.
DOI: 10.1186/s12886-024-03597-1.
Wolf M, Rathmell W, de Cubas A
Nat Rev Nephrol. 2023; 19(7):440-450.
PMID: 36973495
PMC: 10801831.
DOI: 10.1038/s41581-023-00700-5.
Huang Y, Hu W, Huang X
Front Oncol. 2022; 12:963469.
PMID: 36408156
PMC: 9667117.
DOI: 10.3389/fonc.2022.963469.
Azimi F, Aghajani A, Khakpour G, Chaibakhsh S
Mol Genet Genomics. 2022; 297(6):1615-1626.
PMID: 36006455
DOI: 10.1007/s00438-022-01940-z.
Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack.
Castro-Teles J, Sousa-Pinto B, Rebelo S, Pignatelli D
Endocr Connect. 2021; 10(11):R293-R304.
PMID: 34596579
PMC: 8630766.
DOI: 10.1530/EC-21-0294.
Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.
Liu Q, Yuan G, Tong D, Liu G, Yi Y, Zhang J
Endocr Connect. 2018; 7(7):870-878.
PMID: 29871882
PMC: 6026882.
DOI: 10.1530/EC-18-0167.
Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma.
Lomte N, Kumar S, Sarathi V, Pandit R, Goroshi M, Jadhav S
Fam Cancer. 2017; 17(3):441-449.
PMID: 29124493
DOI: 10.1007/s10689-017-0058-y.
Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients.
Ma D, Yang J, Wang Y, Huang X, Du G, Zhou L
Am J Med Genet A. 2017; 173(10):2605-2613.
PMID: 28742274
PMC: 5603408.
DOI: 10.1002/ajmg.a.38350.
Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark.
Binderup M, Galanakis M, Budtz-Jorgensen E, Kosteljanetz M, Bisgaard M
Eur J Hum Genet. 2016; 25(3):301-307.
PMID: 27966541
PMC: 5315510.
DOI: 10.1038/ejhg.2016.173.
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
Lee J, Lee J, Lee K, Kim J, Hong J, Ra E
BMC Med Genet. 2016; 17(1):48.
PMID: 27439424
PMC: 4955248.
DOI: 10.1186/s12881-016-0306-2.
Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.
Zhang J, Ma J, Du X, Wu D, Ai H, Bai J
Chin Med J (Engl). 2015; 128(1):32-8.
PMID: 25563310
PMC: 4837816.
DOI: 10.4103/0366-6999.147802.
Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome.
Krzystolik K, Jakubowska A, Gronwald J, Krawczynski M, Drobek-Slowik M, Sagan L
Hered Cancer Clin Pract. 2014; 12(1):16.
PMID: 25093046
PMC: 4120008.
DOI: 10.1186/1897-4287-12-16.
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
Hwang S, Ku C, Lee J, Hur K, Lee M, Lee C
J Hum Genet. 2014; 59(9):488-93.
PMID: 25078357
DOI: 10.1038/jhg.2014.61.
Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma.
Losonczy G, Fazakas F, Pfliegler G, Komaromi I, Balazs E, Penzes K
BMC Med Genet. 2013; 14:3.
PMID: 23298237
PMC: 3556325.
DOI: 10.1186/1471-2350-14-3.
DNA and RNA analyses in detection of genetic predisposition to cancer.
Kurzawski G, Dymerska D, Serrano-Fernandez P, Trubicka J, Masojc B, Jakubowska A
Hered Cancer Clin Pract. 2012; 10(1):17.
PMID: 23206658
PMC: 3551642.
DOI: 10.1186/1897-4287-10-17.
A c.464T>a mutation in VHL gene in a Chinese family with VHL syndrome.
Lu Y, Lu J, Liu Q, Niu J, Zhang S, Wu Q
J Neurooncol. 2012; 111(3):313-8.
PMID: 23203444
DOI: 10.1007/s11060-012-1015-0.
A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene.
Majchrzak K, Cybulski C, Bobek-Billewicz B, Majchrzak H, Lubinski J
Neurol Sci. 2011; 32(3):491-6.
PMID: 21384277
PMC: 3092932.
DOI: 10.1007/s10072-011-0502-y.
Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.
Cybulski C, Matyjasik J, Soroka M, Szymas J, Gorski B, Debniak T
Hered Cancer Clin Pract. 2010; 2(2):93-7.
PMID: 20233476
PMC: 2840000.
DOI: 10.1186/1897-4287-2-2-93.
DNA and RNA analyses in detection of genetic predisposition to cancer.
Matyjasik J, Masojc B, Kurzawski G
Hered Cancer Clin Pract. 2009; 6(2):73-80.
PMID: 19804600
PMC: 2735761.
DOI: 10.1186/1897-4287-6-2-73.