215 related articles for article (PubMed ID: 20120764)
1. Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family.
Tong AL; Zeng ZP; Zhou YR; Yuan T; Cao CX; Zhang J; Li M
Chin Med Sci J; 2009 Dec; 24(4):197-201. PubMed ID: 20120764
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Discovering a novel genetic variant in 11 family members who had isolated pheochromocytoma linked to von Hippel-Lindau (VHL) syndrome, aligning with the type 2c phenotype.
Alhawari H; Obeidat Z; Wahbeh L; Mismar A; Younis N; Jafar H; Momani M; Alsabatin N; Awidi A; Alhawari H
Blood Press; 2024 Dec; 33(1):2355268. PubMed ID: 38824681
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene.
Sansó G; Rudaz MC; Levin G; Barontini M
Am J Hypertens; 2004 Dec; 17(12 Pt 1):1107-11. PubMed ID: 15607616
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.
Nielsen SM; Rubinstein WS; Thull DL; Armstrong MJ; Feingold E; Stang MT; Gnarra JR; Carty SE
Am J Med Genet A; 2011 Jan; 155A(1):168-73. PubMed ID: 21204227
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas.
Tong AL; Zeng ZP; Li HZ; Yang D; Lu L; Li M; Zhou YR; Zhang J; Chen S; Liang W
Ann N Y Acad Sci; 2006 Aug; 1073():203-7. PubMed ID: 17102088
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. [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]
14. Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing.
Cruz JB; Fernandes LP; Clara SA; Conde SJ; Perone D; Kopp P; Nogueira CR
Arq Bras Endocrinol Metabol; 2007 Dec; 51(9):1463-7. PubMed ID: 18209888
[TBL] [Abstract][Full Text] [Related]
15. Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma.
Garcia A; Matias-Guiu X; Cabezas R; Chico A; Prat J; Baiget M; De Leiva A
Clin Endocrinol (Oxf); 1997 Mar; 46(3):359-63. PubMed ID: 9156047
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. A novel mutation in the von Hippel-Lindau tumor suppressor gene identified in a Japanese family with pheochromocytoma and hepatic hemangioma.
Takahashi K; Iida K; Okimura Y; Takahashi Y; Naito J; Nishikawa S; Kadowaki S; Iguchi G; Kaji H; Chihara K
Intern Med; 2006; 45(5):265-9. PubMed ID: 16595991
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
