186 related articles for article (PubMed ID: 12414898)
1. VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.
Weirich G; Klein B; Wöhl T; Engelhardt D; Brauch H
J Clin Endocrinol Metab; 2002 Nov; 87(11):5241-6. PubMed ID: 12414898
[TBL] [Abstract][Full Text] [Related]
2. A variety of phenotype with R161Q germline mutation of the von Hippel-Lindau tumor suppressor gene in Japanese kindred.
Iida K; Okimura Y; Takahashi K; Inomata S; Iguchi G; Kaji H; Chihara K
Int J Mol Med; 2004 Mar; 13(3):401-4. PubMed ID: 14767570
[TBL] [Abstract][Full Text] [Related]
3. Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.
Zatyka M; da Silva NF; Clifford SC; Morris MR; Wiesener MS; Eckardt KU; Houlston RS; Richards FM; Latif F; Maher ER
Cancer Res; 2002 Jul; 62(13):3803-11. PubMed ID: 12097293
[TBL] [Abstract][Full Text] [Related]
4. von Hippel-Lindau disease type 2A in a family with a duplicated 21-base-pair in-frame insertion mutation in the VHL gene.
Miyagawa Y; Nakazawa M; Noda Y; Ito S; Ohguro H
Graefes Arch Clin Exp Ophthalmol; 2003 Mar; 241(3):241-4. PubMed ID: 12644949
[TBL] [Abstract][Full Text] [Related]
5. [Von Hippel-Lindau disease].
Shuin T; Ashida S; Yao M; Kanno H
Nihon Rinsho; 2000 Jul; 58(7):1448-54. PubMed ID: 10921322
[TBL] [Abstract][Full Text] [Related]
6. Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.
Allen RC; Webster AR; Sui R; Brown J; Taylor CM; Stone EM
Arch Ophthalmol; 2001 Nov; 119(11):1659-65. PubMed ID: 11709017
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.
Hoffman MA; Ohh M; Yang H; Klco JM; Ivan M; Kaelin WG
Hum Mol Genet; 2001 May; 10(10):1019-27. PubMed ID: 11331612
[TBL] [Abstract][Full Text] [Related]
9. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
Stolle C; Glenn G; Zbar B; Humphrey JS; Choyke P; Walther M; Pack S; Hurley K; Andrey C; Klausner R; Linehan WM
Hum Mutat; 1998; 12(6):417-23. PubMed ID: 9829911
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
Chen F; Slife L; Kishida T; Mulvihill J; Tisherman SE; Zbar B
J Med Genet; 1996 Aug; 33(8):716-7. PubMed ID: 8863170
[TBL] [Abstract][Full Text] [Related]
12. Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.
Assadi F; Brackbill EL
Am J Kidney Dis; 2003 Jan; 41(1):E3. PubMed ID: 12500216
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.
Rocha JC; Silva RL; Mendonça BB; Marui S; Simpson AJ; Camargo AA
J Med Genet; 2003 Mar; 40(3):e31. PubMed ID: 12624160
[No Abstract] [Full Text] [Related]
16. Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
Cybulski C; Krzystolik K; Murgia A; Górski B; Debniak T; Jakubowska A; Martella M; Kurzawski G; Prost M; Kojder I; Limon J; Nowacki P; Sagan L; Białas B; Kałuza J; Zdunek M; Omulecka A; Jaskólski D; Kostyk E; Koraszewska-Matuszewska B; Haus O; Janiszewska H; Pecold K; Starzycka M; Słomski R; Cwirko M; Sikorski A; Gliniewicz B; Cyryłowski L; Fiszer-Maliszewska Ł; Gronwald J; Tołoczko-Grabarek A; Zajaczek S; Lubiński J
J Med Genet; 2002 Jul; 39(7):E38. PubMed ID: 12114495
[No Abstract] [Full Text] [Related]
17. Somatic mosaicism in von Hippel-Lindau Disease.
Murgia A; Martella M; Vinanzi C; Polli R; Perilongo G; Opocher G
Hum Mutat; 2000 Jan; 15(1):114. PubMed ID: 10612832
[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. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
Chen F; Kishida T; Yao M; Hustad T; Glavac D; Dean M; Gnarra JR; Orcutt ML; Duh FM; Glenn G
Hum Mutat; 1995; 5(1):66-75. PubMed ID: 7728151
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
