Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2

Journal of Medical Genetics

Volumn 33, Issue 6, 1996, Pages 441-443

  Piantanida, M ^a   Buscarini, E ^b   Dellavecchia, C ^a   Minelli, A ^a   Rossi, A ^b   Buscarini, L ^b   Danesino, C ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b Ospedale di Piacenza   (Italy)

Author keywords

Genetic heterogeneity; HHT; Liver involvement; Rendu Osler Weber

Indexed keywords

ARTICLE; CEREBROVASCULAR MALFORMATION; CHROMOSOME 12Q; CHROMOSOME 9Q; CONGENITAL BLOOD VESSEL MALFORMATION; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN CELL; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE;

EID: 0030014405     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.6.441     Document Type: Article

References (22)

1. Online Mendelian Inheritance in Man, OMIM. The human genome data base project. Baltimore: Johns Hopkins University, MIM 187300, date last edited November 1995.
2. McDonald MT, Papenberg KA, Ghosh S, et al. A disease locus for hereditary hemorrhagic telangiectasia maps to chromosome 9q33-34. Nature Genet 1994;6:197-204.
3. Shovlin CL, Huges JMB, Tuddenham EGD, et al. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nature Genet 1994;8:205-9.
4. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nature Genet 1994;6:345-51.
5. Porteous MEM, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Bum J. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet 1994:31:925-6.
6. McAllister KA, Lennon F, Bowles-Biesecker B, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J Med Genet 1994;31:927-32.
7. Heutink P, Haitjema T, Breedveld GJ, et al. Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J Med Genet 1994;31:933-6.
8. Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Molec Genet 1995;4:945-9.
9. Johnson DW, Berg JN, Gallione CJ, et al. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995;5:21-8.
10. Online Mendelian Inheritance in Man, OMIM. The human genome data base project. Baltimore: Johns Hopkins University, MIM 600376, date last edited November 1995.
11. Gunel M, Awad IA, Anson J, Lifton RP. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci USA 1995;92:6620-4.
12. Dubovsky J, Zabramski JM, Kurth J, et al. A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Molec Genet 1995;4:453-8.
13. Marchuk DA, Gallione CJ, Morrison LA, et al. A locus for cerebral cavernous malformations maps to chromosome 7q in two families. Genomics 1995;28:311-4.
14. Boon LM, Mulliken JB, Vikkula M, et al. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Molec Genet 1994;3:1583-7.
15. Gallione CJ, Pasyk KA, Boon LM, et al. A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet 1995:32:197-9.
16. Buscarini E, Buscarini L, Civardi G, Arruzzoli S, Bossalini G, Piantanida M. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: imaging findings. AJR 1994:163:1105-10.
17. Shaffer AA, Gupta SK, Shriram K, Cottingham RW. Avoiding recomputation in linkage analysis. Hum Hered 1994;44:225-37.
18. Povey S, Armour J, Farndon P, et al. Report on the third international workshop on chromosome 9. Ann Hunt Genet 1994;58:177-250.
19. Dubovsky J, Sheffield VC, Duyk GM, Weber GL. Set of short tandem repeat polymorphism for efficient linkage screening of the human genome. Hum Molec Genet 1995;4:449-52.
20. Plauchu H, de Chadarévian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989;32:291-7.
21. Nikolopoulos N, Xynos E, Vassilakis JS. Familial occurrence of hyperdynamic circulation status due to intrahepatic fistulae in hereditary hemorrhagic telangiectasia. Hepatogastroenterology 1988;35:167-8.
22. Guillen B, Guizar J, de la Cruz J, Salamanca F. Hereditary hemorrhagic telangiectasia: report of 15 affected cases in a Mexican family. Clin Genet 1991;39:214-8.