158 related articles for article (PubMed ID: 30512164)
1. [Mutation analysis for a family affected with von Hippel-Lindau syndrome].
Liu J; Wang Y; Wang S; Si H; Duan W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):860-863. PubMed ID: 30512164
[TBL] [Abstract][Full Text] [Related]
2. Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.
Glushkova M; Dimova P; Yordanova I; Todorov T; Tourtourikov I; Mitev V; Todorova A
Int J Neurosci; 2018 Feb; 128(2):117-124. PubMed ID: 28849724
[TBL] [Abstract][Full Text] [Related]
3. A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma.
Fu XM; Zhao SL; Gui JC; Jiang YQ; Shen MN; Su DL; Gu BJ; Wang XQ; Ren QJ; Yin XD; Huang WB; Chen XG
Genet Mol Res; 2015 May; 14(2):4513-20. PubMed ID: 25966224
[TBL] [Abstract][Full Text] [Related]
4. Whole-Exome Sequencing Reveals Novel Variations in Patients with Familial Von Hippel-Lindau Syndrome.
Zhou Y; Liu J; Chu L; Dong M; Feng L
World Neurosurg; 2021 Jun; 150():e696-e704. PubMed ID: 33774214
[TBL] [Abstract][Full Text] [Related]
5. [Prenatal exclusion of von Hippel-Lindau syndrome in a Mexican family carrying a novel VHL gene mutation].
Chacón-Camacho OF; Benitez-Granados J; Zenteno JC
Ginecol Obstet Mex; 2013 Apr; 81(4):206-10. PubMed ID: 23720934
[TBL] [Abstract][Full Text] [Related]
6. [Genetic analysis of a family with Von Hippel-Lindau syndrome].
Lafuente-Sanchis A; Cuevas JM; Alemany P; Cremades A; Zúñiga Á
Rev Esp Patol; 2017; 50(1):64-67. PubMed ID: 29179968
[TBL] [Abstract][Full Text] [Related]
7. A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.
Rich TA; Jonasch E; Matin S; Waguespack SG; Gombos DS; Santarpia L; Stolle C; Jimenez C
Cancer Invest; 2008 Jul; 26(6):642-6. PubMed ID: 18584357
[TBL] [Abstract][Full Text] [Related]
8. [Analysis of clinical characteristics of a pedigree with familial renal cell carcinoma and germline mutation of VHL gene].
Chen W; Zhu M; Lyu M; Zhang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Oct; 37(10):1132-1135. PubMed ID: 32924118
[TBL] [Abstract][Full Text] [Related]
9. [Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome].
Zhang J; Huang YR; Pan JH; Liu DM; Zhou LX; Xue W; Chen Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):124-7. PubMed ID: 17407064
[TBL] [Abstract][Full Text] [Related]
10. 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 JS; Lee JH; Lee KE; Kim JH; Hong JM; Ra EK; Seo SH; Lee SJ; Kim MJ; Park SS; Seong MW
BMC Med Genet; 2016 Jul; 17(1):48. PubMed ID: 27439424
[TBL] [Abstract][Full Text] [Related]
11. [Prenatal exclusion of von Hippel-Lindau syndrome in a Mexican family carrying a novel VHL gene mutation].
Chacón-Camacho OF; Benitez-Granados J; Zenteno JC
Ginecol Obstet Mex; 2014 Mar; 82(3):163-9. PubMed ID: 24779271
[TBL] [Abstract][Full Text] [Related]
12. Identification of a new
Lenglet M; Robriquet F; Schwarz K; Camps C; Couturier A; Hoogewijs D; Buffet A; Knight SJL; Gad S; Couvé S; Chesnel F; Pacault M; Lindenbaum P; Job S; Dumont S; Besnard T; Cornec M; Dreau H; Pentony M; Kvikstad E; Deveaux S; Burnichon N; Ferlicot S; Vilaine M; Mazzella JM; Airaud F; Garrec C; Heidet L; Irtan S; Mantadakis E; Bouchireb K; Debatin KM; Redon R; Bezieau S; Bressac-de Paillerets B; Teh BT; Girodon F; Randi ML; Putti MC; Bours V; Van Wijk R; Göthert JR; Kattamis A; Janin N; Bento C; Taylor JC; Arlot-Bonnemains Y; Richard S; Gimenez-Roqueplo AP; Cario H; Gardie B
Blood; 2018 Aug; 132(5):469-483. PubMed ID: 29891534
[TBL] [Abstract][Full Text] [Related]
13. Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.
Albanyan S; Giles RH; Gimeno EM; Silver J; Murphy J; Faghfoury H; Morel CF; Machado J; Kim RH
Eur J Med Genet; 2019 Mar; 62(3):177-181. PubMed ID: 30006056
[TBL] [Abstract][Full Text] [Related]
14. Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease.
Chen J; Geng W; Zhao Y; Zhao H; Wang G; Huang F; Liu F; Geng X
Clin Transl Oncol; 2013 May; 15(5):391-7. PubMed ID: 23143947
[TBL] [Abstract][Full Text] [Related]
15. A variety of phenotype with R161Q germline mutation of the von Hippel-Lindau tumor suppressor gene in Japanese kindred.
Iida K; Okimura Y; Takahashi K; Inomata S; Iguchi G; Kaji H; Chihara K
Int J Mol Med; 2004 Mar; 13(3):401-4. PubMed ID: 14767570
[TBL] [Abstract][Full Text] [Related]
16. Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation.
Zhang M; Wang J; Jiang J; Zhan X; Ling Y; Lu Z; Guo J; Gao X
Endocrine; 2015 Feb; 48(1):83-8. PubMed ID: 25069792
[TBL] [Abstract][Full Text] [Related]
17. Novel gene mutation in von Hippel-Lindau disease - a report of two cases.
Wang J; Cao W; Wang Z; Zhu H
BMC Med Genet; 2019 Dec; 20(1):194. PubMed ID: 31823746
[TBL] [Abstract][Full Text] [Related]
18. Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.
Stanojevic BR; Lohse P; Neskovic GG; Damjanovic SM; Novkovic TB; Jovanovic-Cupic SP; Dimitrijević BB
Neoplasma; 2007; 54(5):402-6. PubMed ID: 17688370
[TBL] [Abstract][Full Text] [Related]
19. [Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome].
Zhang J; Chen HG; Xue W; Zhou LX; Huang YR
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct; 26(5):539-41. PubMed ID: 19806577
[TBL] [Abstract][Full Text] [Related]
20. Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.
Zatyka M; da Silva NF; Clifford SC; Morris MR; Wiesener MS; Eckardt KU; Houlston RS; Richards FM; Latif F; Maher ER
Cancer Res; 2002 Jul; 62(13):3803-11. PubMed ID: 12097293
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
