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- Andrew S. E., Goldberg Y. P., Kremer B., Telenius H., Theilmann J., Adam S., Starr E., Squitieri F., Lin B., Kalchman M. A. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet. 1993 Aug;4(4):398–403. doi: 10.1038/ng0893-398. [DOI] [PubMed] [Google Scholar]
- Andrew S. E., Goldberg Y. P., Theilmann J., Zeisler J., Hayden M. R. A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet. 1994 Jan;3(1):65–67. doi: 10.1093/hmg/3.1.65. [DOI] [PubMed] [Google Scholar]
- Church G. M., Gilbert W. Genomic sequencing. Proc Natl Acad Sci U S A. 1984 Apr;81(7):1991–1995. doi: 10.1073/pnas.81.7.1991. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Duyao M., Ambrose C., Myers R., Novelletto A., Persichetti F., Frontali M., Folstein S., Ross C., Franz M., Abbott M. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet. 1993 Aug;4(4):387–392. doi: 10.1038/ng0893-387. [DOI] [PubMed] [Google Scholar]
- Gellera C., Meoni C., Castellotti B., Zappacosta B., Girotti F., Taroni F., DiDonato S. Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene. Am J Hum Genet. 1996 Aug;59(2):475–477. [PMC free article] [PubMed] [Google Scholar]
- Kremer B., Goldberg P., Andrew S. E., Theilmann J., Telenius H., Zeisler J., Squitieri F., Lin B., Bassett A., Almqvist E. A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med. 1994 May 19;330(20):1401–1406. doi: 10.1056/NEJM199405193302001. [DOI] [PubMed] [Google Scholar]
- Martin J. B., Gusella J. F. Huntington's disease. Pathogenesis and management. N Engl J Med. 1986 Nov 13;315(20):1267–1276. doi: 10.1056/NEJM198611133152006. [DOI] [PubMed] [Google Scholar]
- Riess O., Noerremoelle A., Soerensen S. A., Epplen J. T. Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease. Hum Mol Genet. 1993 Jun;2(6):637–637. doi: 10.1093/hmg/2.6.637. [DOI] [PubMed] [Google Scholar]
- Rosser E., Huson S. M., Norbury G. Prenatal, presymptomatic, and diagnostic testing with direct mutation analysis in Huntington's disease. Lancet. 1994 Feb 19;343(8895):487–488. doi: 10.1016/s0140-6736(94)92740-5. [DOI] [PubMed] [Google Scholar]
- Snell R. G., MacMillan J. C., Cheadle J. P., Fenton I., Lazarou L. P., Davies P., MacDonald M. E., Gusella J. F., Harper P. S., Shaw D. J. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet. 1993 Aug;4(4):393–397. doi: 10.1038/ng0893-393. [DOI] [PubMed] [Google Scholar]
- Telenius H., Kremer H. P., Theilmann J., Andrew S. E., Almqvist E., Anvret M., Greenberg C., Greenberg J., Lucotte G., Squitieri F. Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet. 1993 Oct;2(10):1535–1540. doi: 10.1093/hmg/2.10.1535. [DOI] [PubMed] [Google Scholar]
- Warner J. P., Barron L. H., Brock D. J. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes. 1993 Jun;7(3):235–239. doi: 10.1006/mcpr.1993.1034. [DOI] [PubMed] [Google Scholar]
- Zühlke C., Riess O., Schröder K., Siedlaczck I., Epplen J. T., Engel W., Thies U. Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin. Hum Mol Genet. 1993 Sep;2(9):1467–1469. doi: 10.1093/hmg/2.9.1467. [DOI] [PubMed] [Google Scholar]