192 related articles for article (PubMed ID: 32303605)
1. Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study.
Xie H; Ma K; Zhang J; Hong B; Zhou J; Li L; Zhang K; Gong K; Cai L
J Med Genet; 2020 Nov; 57(11):744-751. PubMed ID: 32303605
[TBL] [Abstract][Full Text] [Related]
2. Genotype and phenotype correlation in von Hippel-Lindau disease based on alteration of the HIF-α binding site in VHL protein.
Liu SJ; Wang JY; Peng SH; Li T; Ning XH; Hong BA; Liu JY; Wu PJ; Zhou BW; Zhou JC; Qi NN; Peng X; Zhang JF; Ma KF; Cai L; Gong K
Genet Med; 2018 Oct; 20(10):1266-1273. PubMed ID: 29595810
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.
Nielsen SM; Rubinstein WS; Thull DL; Armstrong MJ; Feingold E; Stang MT; Gnarra JR; Carty SE
Am J Med Genet A; 2011 Jan; 155A(1):168-73. PubMed ID: 21204227
[TBL] [Abstract][Full Text] [Related]
5. The Genotype-Phenotype Association of Von Hipple Lindau Disease Based on Mutation Locations: A Retrospective Study of 577 Cases in a Chinese Population.
Qiu J; Zhang K; Ma K; Zhou J; Gong Y; Cai L; Gong K
Front Genet; 2020; 11():532588. PubMed ID: 33362845
[TBL] [Abstract][Full Text] [Related]
6. Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma.
Zhou J; Wang J; Li N; Zhang X; Zhou H; Zhang R; Ma H; Zhou X
Pathol Int; 2010 Jun; 60(6):452-8. PubMed ID: 20518900
[TBL] [Abstract][Full Text] [Related]
7. Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.
Gomy I; Molfetta GA; de Andrade Barreto E; Ferreira CA; Zanette DL; Casali-da-Rocha JC; Silva WA
Fam Cancer; 2010 Dec; 9(4):635-42. PubMed ID: 20567917
[TBL] [Abstract][Full Text] [Related]
8. Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
Maher ER; Webster AR; Richards FM; Green JS; Crossey PA; Payne SJ; Moore AT
J Med Genet; 1996 Apr; 33(4):328-32. PubMed ID: 8730290
[TBL] [Abstract][Full Text] [Related]
9. Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.
Salama Y; Albanyan S; Szybowska M; Bullivant G; Gallinger B; Giles RH; Asa S; Badduke C; Chiorean A; Druker H; Ezzat S; Hannah-Shmouni F; Hernandez KG; Inglese C; Jani P; Kaur Y; Krema H; Krimus L; Laperriere N; Lichner Z; Mete O; Sit M; Zadeh G; Jewett MAS; Malkin D; Stockley T; Wasserman JD; Xu W; Schachter NF; Kim RH
Clin Genet; 2019 Nov; 96(5):461-467. PubMed ID: 31368132
[TBL] [Abstract][Full Text] [Related]
10. The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
Gläsker S; Bender BU; Apel TW; Natt E; van Velthoven V; Scheremet R; Zentner J; Neumann HP
J Neurol Neurosurg Psychiatry; 1999 Dec; 67(6):758-62. PubMed ID: 10567493
[TBL] [Abstract][Full Text] [Related]
11. In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease.
Tirosh A; El Lakis M; Green P; Nockel P; Patel D; Nilubol N; Gara SK; Keutgen XM; Linehan WM; Kebebew E
J Clin Endocrinol Metab; 2018 Apr; 103(4):1631-1638. PubMed ID: 29294023
[TBL] [Abstract][Full Text] [Related]
12. Genotype-phenotype correlation in von Hippel-Lindau disease.
Reich M; Jaegle S; Neumann-Haefelin E; Klingler JH; Evers C; Daniel M; Bucher F; Ludwig F; Nuessle S; Kopp J; Boehringer D; Reinhard T; Lagrèze WA; Lange C; Agostini H; Lang SJ
Acta Ophthalmol; 2021 Dec; 99(8):e1492-e1500. PubMed ID: 33720516
[TBL] [Abstract][Full Text] [Related]
13. Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
Wittström E; Nordling M; Andréasson S
Ophthalmic Genet; 2014 Jun; 35(2):91-106. PubMed ID: 24555745
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.
Peng S; Shepard MJ; Wang J; Li T; Ning X; Cai L; Zhuang Z; Gong K
Oncotarget; 2017 Jun; 8(24):38456-38465. PubMed ID: 28388566
[TBL] [Abstract][Full Text] [Related]
16. Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
Forman JR; Worth CL; Bickerton GR; Eisen TG; Blundell TL
Proteins; 2009 Oct; 77(1):84-96. PubMed ID: 19408298
[TBL] [Abstract][Full Text] [Related]
17. VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.
Woodward ER; Wall K; Forsyth J; Macdonald F; Maher ER
Brain; 2007 Mar; 130(Pt 3):836-42. PubMed ID: 17264095
[TBL] [Abstract][Full Text] [Related]
18. Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR; Suresh N; Hiller M; Freed SD; Haldar K; Lee SW
PLoS One; 2020; 15(11):e0234100. PubMed ID: 33151962
[TBL] [Abstract][Full Text] [Related]
19. Familial and genetic researches on three Chinese families with von Hippel-Lindau disease.
Mao XC; Su ZP; Yu WQ; Zheng WM; Zeng YJ
Neurol Res; 2009 Sep; 31(7):743-7. PubMed ID: 19133167
[TBL] [Abstract][Full Text] [Related]
20. Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
Olschwang S; Richard S; Boisson C; Giraud S; Laurent-Puig P; Resche F; Thomas G
Hum Mutat; 1998; 12(6):424-30. PubMed ID: 9829912
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
