144 related articles for article (PubMed ID: 36715412)
1. Investigation of germline
Naseripour M; Azimi F; Talebi S; Mirshahi R; Kiaee R; Sedaghat A; Zohre AK; Khakpour G
Ophthalmic Genet; 2023 Jun; 44(3):211-217. PubMed ID: 36715412
[TBL] [Abstract][Full Text] [Related]
2. A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?
Azimi F; Aghajani A; Khakpour G; Chaibakhsh S
Mol Genet Genomics; 2022 Nov; 297(6):1615-1626. PubMed ID: 36006455
[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. Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients.
Lee SH; Park KH; Woo SJ; Park SJ; Joo K
Korean J Ophthalmol; 2022 Dec; 36(6):543-549. PubMed ID: 36281577
[TBL] [Abstract][Full Text] [Related]
5. Deletion of the von Hippel-Lindau Gene in Hemangioblasts Causes Hemangioblastoma-like Lesions in Murine Retina.
Wang H; Shepard MJ; Zhang C; Dong L; Walker D; Guedez L; Park S; Wang Y; Chen S; Pang Y; Zhang Q; Gao C; Wong WT; Wiley H; Pacak K; Chew EY; Zhuang Z; Chan CC
Cancer Res; 2018 Mar; 78(5):1266-1274. PubMed ID: 29301791
[TBL] [Abstract][Full Text] [Related]
6. Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease.
Toy BC; Agrón E; Nigam D; Chew EY; Wong WT
Ophthalmology; 2012 Dec; 119(12):2622-30. PubMed ID: 22906772
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.
Dollfus H; Massin P; Taupin P; Nemeth C; Amara S; Giraud S; Béroud C; Dureau P; Gaudric A; Landais P; Richard S
Invest Ophthalmol Vis Sci; 2002 Sep; 43(9):3067-74. PubMed ID: 12202531
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.
Ding X; Zhang C; Frerich JM; Germanwala A; Yang C; Lonser RR; Mao Y; Zhuang Z; Zhang M
J Neurosurg; 2014 Aug; 121(2):384-386. PubMed ID: 24678776
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.
Mettu P; Agrón E; Samtani S; Chew EY; Wong WT
Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4464-70. PubMed ID: 20375333
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report.
Liu Z; Zhou J; Li L; Yi Z; Lu R; Li C; Gong K
BMC Med Genet; 2020 Oct; 21(1):191. PubMed ID: 33004005
[TBL] [Abstract][Full Text] [Related]
14. Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma.
Rasmussen A; Nava-Salazar S; Yescas P; Alonso E; Revuelta R; Ortiz I; Canizales-Quinteros S; Tusié-Luna MT; López-López M
J Neurosurg; 2006 Mar; 104(3):389-94. PubMed ID: 16572651
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.
Hes F; Zewald R; Peeters T; Sijmons R; Links T; Verheij J; Matthijs G; Leguis E; Mortier G; van der Torren K; Rosman M; Lips C; Pearson P; van der Luijt R
Hum Genet; 2000 Apr; 106(4):425-31. PubMed ID: 10830910
[TBL] [Abstract][Full Text] [Related]
17. Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing.
Liu F; Calhoun B; Alam MS; Sun M; Wang X; Zhang C; Haldar K; Lu X
BMC Med Genet; 2020 Feb; 21(1):42. PubMed ID: 32106822
[TBL] [Abstract][Full Text] [Related]
18. The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
Abbott MA; Nathanson KL; Nightingale S; Maher ER; Greenstein RM
Am J Med Genet A; 2006 Apr; 140(7):685-90. PubMed ID: 16502427
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Genotype-phenotype correlations in VHL exon deletions.
McNeill A; Rattenberry E; Barber R; Killick P; MacDonald F; Maher ER
Am J Med Genet A; 2009 Oct; 149A(10):2147-51. PubMed ID: 19764026
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]