Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Antiñolo G., Borrego S., Cabeza J. C., Sánchez R., Sánchez J., Sánchez B. Reverse mutation in fragile X syndrome. Am J Hum Genet. 1996 Jan;58(1):237–239. [PMC free article] [PubMed] [Google Scholar]
- Bates G., Lehrach H. Trinucleotide repeat expansions and human genetic disease. Bioessays. 1994 Apr;16(4):277–284. doi: 10.1002/bies.950160411. [DOI] [PubMed] [Google Scholar]
- Brunner H. G., Jansen G., Nillesen W., Nelen M. R., de Die C. E., Höweler C. J., van Oost B. A., Wieringa B., Ropers H. H., Smeets H. J. Brief report: reverse mutation in myotonic dystrophy. N Engl J Med. 1993 Feb 18;328(7):476–480. doi: 10.1056/NEJM199302183280705. [DOI] [PubMed] [Google Scholar]
- Campuzano V., Montermini L., Moltò M. D., Pianese L., Cossée M., Cavalcanti F., Monros E., Rodius F., Duclos F., Monticelli A. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 8;271(5254):1423–1427. doi: 10.1126/science.271.5254.1423. [DOI] [PubMed] [Google Scholar]
- Filla A., De Michele G., Cavalcanti F., Pianese L., Monticelli A., Campanella G., Cocozza S. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 1996 Sep;59(3):554–560. [PMC free article] [PubMed] [Google Scholar]
- Filla A., De Michele G., Marconi R., Bucci L., Carillo C., Castellano A. E., Iorio L., Kniahynicki C., Rossi F., Campanella G. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol. 1992 Jul;239(6):351–353. doi: 10.1007/BF00867594. [DOI] [PubMed] [Google Scholar]
- Pianese L., Cocozza S., Campanella G., Castaldo I., Cavalcanti F., De Michele G., Filla A., Monticelli A., Munaro M., Redolfi E. Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population. J Med Genet. 1994 Feb;31(2):133–135. doi: 10.1136/jmg.31.2.133. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Telenius H., Almqvist E., Kremer B., Spence N., Squitieri F., Nichol K., Grandell U., Starr E., Benjamin C., Castaldo I. Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease. Hum Mol Genet. 1995 Feb;4(2):189–195. doi: 10.1093/hmg/4.2.189. [DOI] [PubMed] [Google Scholar]
- Zhang L., Leeflang E. P., Yu J., Arnheim N. Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene. Nat Genet. 1994 Aug;7(4):531–535. doi: 10.1038/ng0894-531. [DOI] [PubMed] [Google Scholar]