544 related articles for article (PubMed ID: 32179488)
1. 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]
2. 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]
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. 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]
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 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]
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. [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. 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]
10. 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]
11. Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.
Gergics P; Patocs A; Toth M; Igaz P; Szucs N; Liko I; Fazakas F; Szabo I; Kovacs B; Glaz E; Racz K
Eur J Endocrinol; 2009 Sep; 161(3):495-502. PubMed ID: 19574279
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Von Hippel-Lindau syndrome. A pleomorphic condition.
Friedrich CA
Cancer; 1999 Dec; 86(11 Suppl):2478-82. PubMed ID: 10630173
[TBL] [Abstract][Full Text] [Related]
15. A family with von Hippel-Lindau disease revealed by pheochromocytoma.
Tomita N; Moriguchi A; Yamasaki K; Taniyama Y; Kotani N; Hashiya N; Yoshida M; Yao M; Higaki J; Ogihara T
Hypertens Res; 2001 Jul; 24(4):445-50. PubMed ID: 11510758
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. von Hippel Lindau disease with colon adenocarcinoma, renal cell carcinoma and adrenal pheochromocytoma.
Zinnamosca L; Laudisi A; Petramala L; Marinelli C; Roselli M; Vitolo D; Montesani C; Letizia C
Intern Med; 2013; 52(14):1599-603. PubMed ID: 23857093
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas.
Dannenberg H; De Krijger RR; van der Harst E; Abbou M; IJzendoorn Y; Komminoth P; Dinjens WN
Int J Cancer; 2003 Jun; 105(2):190-5. PubMed ID: 12673678
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
