210 related articles for article (PubMed ID: 30006056)
1. 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]
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. Germline mutations in the new E1' cryptic exon of the
Buffet A; Calsina B; Flores S; Giraud S; Lenglet M; Romanet P; Deflorenne E; Aller J; Bourdeau I; Bressac-de Paillerets B; Calatayud M; Dehais C; De Mones Del Pujol E; Elenkova A; Herman P; Kamenický P; Lejeune S; Sadoul JL; Barlier A; Richard S; Favier J; Burnichon N; Gardie B; Dahia PL; Robledo M; Gimenez-Roqueplo AP
J Med Genet; 2020 Nov; 57(11):752-759. PubMed ID: 31996412
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study.
Pettman RK; Crowley A; Riddell C; Ludman MD
Mol Diagn Ther; 2006; 10(4):239-42. PubMed ID: 16884327
[TBL] [Abstract][Full Text] [Related]
7. Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel-Lindau disease.
Hattori K; Teranishi J; Stolle C; Yoshida M; Kondo K; Kishida T; Kanno H; Baba M; Kubota Y; Yao M
Cancer Sci; 2006 May; 97(5):400-5. PubMed ID: 16630138
[TBL] [Abstract][Full Text] [Related]
8. VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.
Mathó C; Sansó G; Diez B; Barontini M; Pennisi PA
Genet Test Mol Biomarkers; 2016 Dec; 20(12):771-776. PubMed ID: 27617348
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene].
Su Y; Shen WD; Wang CC; Han WJ; Liu J; Hou ZH; Song ZG; Huang DL; Han DY; Yang SM
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2013 Nov; 48(11):913-8. PubMed ID: 24444636
[TBL] [Abstract][Full Text] [Related]
11. Genetic study of a large Chinese kindred with von Hippel-Lindau disease.
Huang YR; Zhang J; Wang JD; Fan XD
Chin Med J (Engl); 2004 Apr; 117(4):552-7. PubMed ID: 15109448
[TBL] [Abstract][Full Text] [Related]
12. Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects.
Shehata BM; Stockwell CA; Castellano-Sanchez AA; Setzer S; Schmotzer CL; Robinson H
Adv Anat Pathol; 2008 May; 15(3):165-71. PubMed ID: 18434768
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Endolymphatic sac tumors in patients with and without von Hippel-Lindau disease: the role of genetic mutation, von Hippel-Lindau protein, and hypoxia inducible factor-1alpha expression.
Jensen RL; Gillespie D; House P; Layfield L; Shelton C
J Neurosurg; 2004 Mar; 100(3):488-97. PubMed ID: 15035285
[TBL] [Abstract][Full Text] [Related]
15. [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]
16. Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease.
Gattolliat CH; Couvé S; Meurice G; Oréar C; Droin N; Chiquet M; Ferlicot S; Verkarre V; Vasiliu V; Molinié V; Méjean A; Dessen P; Giraud S; Bressac-De-Paillerets B; Gardie B; Tean Teh B; Richard S; Gad S
Int J Oncol; 2018 Oct; 53(4):1455-1468. PubMed ID: 30066860
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [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]
19. 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]
20. Von Hippel-Lindau disease: a single gene, several hereditary tumors.
Crespigio J; Berbel LCL; Dias MA; Berbel RF; Pereira SS; Pignatelli D; Mazzuco TL
J Endocrinol Invest; 2018 Jan; 41(1):21-31. PubMed ID: 28589383
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]