535 related articles for article (PubMed ID: 32106822)
1. 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]
2. Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease.
Faiyaz-Ul-Haque M; Jamil M; Aslam M; Abalkhail H; Al-Dayel F; Basit S; Nawaz Z; Zaidi SHE
Cancer Genet; 2020 May; 243():1-6. PubMed ID: 32179488
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient.
Gonc N; Engiz O; Neumann HP; Demirbilek H; Ozon A; Alikasifoglu A; Kandemir N
J Pediatr Endocrinol Metab; 2011; 24(1-2):109-12. PubMed ID: 21528828
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. The N131S mutation in the von Hippel-Lindau gene in a Japanese family with pheochromocytoma and hemangioblastomas.
Imanaka M; Iida K; Takahashi K; Tsuji K; Nishizawa H; Fukuoka H; Takeno R; Takahashi Y; Okimura Y; Kaji H; Chihara K
Endocr J; 2006 Dec; 53(6):819-27. PubMed ID: 17001110
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. [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]
9. Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease.
Hasani-Ranjbar S; Amoli MM; Ebrahim-Habibi A; Haghpanah V; Hejazi M; Soltani A; Larijani B
Fam Cancer; 2009; 8(4):465-71. PubMed ID: 19649731
[TBL] [Abstract][Full Text] [Related]
10. DNA-based diagnosis of the von Hippel-Lindau syndrome.
Patel RJ; Appukuttan B; Ott S; Wang X; Stout JT
Am J Ophthalmol; 2000 Feb; 129(2):258-60. PubMed ID: 10682986
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [Von Hippel-Lindau syndrome with spinal, cerebellar, and retinal hemangioblastoma in identical twins].
Wessels T; Kemeny S; Block F
Nervenarzt; 2002 Dec; 73(12):1195-8. PubMed ID: 12486572
[TBL] [Abstract][Full Text] [Related]
13. Case of parotid mucoepidermoid carcinoma: Expanding the spectrum of von Hippel-Lindau-related neoplasms.
Berger MH; Kerr DA; Rangel Filho AE; Sargi ZB
Head Neck; 2017 Mar; 39(3):E51-E54. PubMed ID: 28006088
[TBL] [Abstract][Full Text] [Related]
14. von Hippel-Lindau syndrome.
Chou A; Toon C; Pickett J; Gill AJ
Front Horm Res; 2013; 41():30-49. PubMed ID: 23652669
[TBL] [Abstract][Full Text] [Related]
15. von Hippel-Lindau disease: a clinical and scientific review.
Maher ER; Neumann HP; Richard S
Eur J Hum Genet; 2011 Jun; 19(6):617-23. PubMed ID: 21386872
[TBL] [Abstract][Full Text] [Related]
16. Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease.
Flores SK; Cheng Z; Jasper AM; Natori K; Okamoto T; Tanabe A; Gotoh K; Shibata H; Sakurai A; Nakai T; Wang X; Zethoven M; Balachander S; Aita Y; Young W; Zheng S; Takekoshi K; Nakamura E; Tothill RW; Aguiar RCT; Dahia PLM
J Clin Endocrinol Metab; 2019 Sep; 104(9):3826-3834. PubMed ID: 30946460
[TBL] [Abstract][Full Text] [Related]
17. Metastases to hemangioblastomas in von Hippel-Lindau disease.
Jarrell ST; Vortmeyer AO; Linehan WM; Oldfield EH; Lonser RR
J Neurosurg; 2006 Aug; 105(2):256-63. PubMed ID: 17219831
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
