Genetic screening in a new family with the type IIB Von Hippel-Lindau disease;Estudio genético de una nueva familia con la enfermedad de Von Hippel-Lindau tipo IIB

Medicina Clinica

Volumn 112, Issue 14, 1999, Pages 546-548

  Cuatrecasas, Guillem ^a   Oriola, Josep ^b   Granada, Maria Lluisa ^a   Florensa, Ramón ^a   Salinas, Isabel ^a  

^a HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 3; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; FEMALE; GENETICS; HETEROZYGOTE DETECTION; HOSPITALIZATION; HUMAN; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; VON HIPPEL LINDAU DISEASE;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE DETECTION; HIPPEL-LINDAU DISEASE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 0033599641     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Lindau A. Zur Frage der angiomatosis retinae und ihner hirncomplikation. Acta Ophtalmol (Copenh) 1927; 4: 193-226.
2. Huson SM, Harper PS, Haurihan MD, Cole G, Weeks RD, Compston DAS. Cerebellar haemangioblastoma and Von Hippel-Lindau disease. Brain 1986; 109: 1.297-1.310.
3. Neumann H, Berger D, Sigmund G, Blum U, Schmidt D, Parmer RJ et al. Pheochromocytomas, multiple endocrine neoplasia type 2, and Von Hippel-Lindau disease. N Engl J Med 1993; 329: 1.531-1.538.
4. Linehan WM, Lerman MI, Zbar B. Identification of the Von Hippel-Lindau gene. Its role in renal cancer. JAMA 1995; 273: 564-570.
5. Manski TJ, Heffner DK, Glenn GM, Patronas NJ, Pikus AT, Katz D et al. Endolymphatic sac tumors. A source of morbid hearing loss in Von Hippel-Lindau disease. JAMA 1997; 277: 1.461-1.466.
6. Atuk NO, Stolle C, Owen JH. Pheochromocytoma in Von Hippel-Lindau disease: clinical presentation and mutation analysis in a large multigenerational kindred. J Clin Endocrinol Metab 1998; 83: 117-120.
7. Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif F et al. Identification of intragenic mutations in the Von Hippel-Lindau disease tumor and correlation with disease phenotype. Hum Mol Genet 1994; 3: 1.303-1.308.
8. Gross D, Avishai N, Meiner V, Filon D, Zbar B, Abeliovich D. Familial pheocromocytoma associated with a novel mutation in the Von Hippel-Lindau gene. J Clin Endcrinol Metab 1996; 81: 147-149.
9. García A, Matias-Guiu X, Cabezas R, Chico A, Prat J, Baiget M et al. Molecular diagnosis of Von Hippel-Lindau disease in a kindred with a predominance of familial phaeocromocytoma. Clin Endocrinol (Oxf) 1997; 46: 359-363.
10. Chen F, Kishida K, Yao M, Hustad T, Glavac D, Dean M et al. Germline mutations in the Von Hippel-Lindau disease tumor supressor gene: correlations with phenotype. Hum Mutat 1995; 5: 66-75.
11. Beroud C, Joly D, Gallou C, Staroz F, Orfanelly MT, Junien C. Software and database for the analysis of mutations in the Von Hippel-Lindau gene. Nucleic Acids Res 1998; 26: 256-258.
12. Miller SA, Dykes DD, Polesky HF. A simple salting out proceding for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 12-15.
13. Maddock IR, Moran A, Maher ER, Teare H, Norman A, Payne S et al. A genetic register for Von Hippel-Lindau disease. J Med Genet 1996; 33: 120-127.
14. Burgos R, Simó R, Hernández-Pascual C, Mesa J. Feocromocitoma y enfermedad de Von Hippel-Lindau. Med Clin (Barc) 1994; 47: 797.
15. Escudero D, Moral A, Pou Serradell A. El seguimiento en la enfermedad de Von Hippel-Lindau. Med Clin (Barc) 1994; 49: 319.
16. Maher ER, Kelin WG. Von Hippel disease. Medicine (Baltimore) 1997; 76: 381-391.
17. Bravo EL. Phaeocromocytoma. Curr Ther Endocrinol Metab 1997; 6: 195-197.
18. Latif E, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML et al. Identification of the Von Hippel-Lindau tumor supressor gene. Science 1993; 260: 1.317-1.320.
19. Duan DR, Pause A, Burgess WH, Aso T, Chen DY, Garrett KP et al. Inhibition of transcription elongation by the VHL tumor supressor protein. Science 1995; 269: 1.402-1.406.
20. Kibel A, Ilopoulos O, De Caprio JA, Kaelin WG. Binding of the Von Hippel-Lindau tumor supressor protein to Elongin B and C. Science 1995; 269: 1.444-1.446.
21. Bertherat J. Von Hippel-Lindau tumor supressor protein and transcription elongation: new insights into regulation of gene expression. Eur J Endocrinol 1996; 134: 157-159.
22. Brauch H, Hoepper W, Jähnig H, Wöhl T, Engelhardt D, Spelsberg F et al. Sporadic phaeocromocytomas are rarely associated with germline mutations in the vhl tumor supressor gene or the ret protooncogene. J Clin Endocrinol Metab 1997; 82: 4.101-4.104.
23. Bar M, Friedman E, Jabokovitz O, Leibowitz G, Lerer I, Abeliovich D el al. Sporadic phaeocromocytomas are rarely associated withy germline mutations in the Von Hippel and ret genes. Clin Endocrinol (Oxf) 1997; 47: 707-712.