Full text
PDFSelected References
These references are in PubMed. This may not be the complete list of references from this article.
- Brook J. D., McCurrach M. E., Harley H. G., Buckler A. J., Church D., Aburatani H., Hunter K., Stanton V. P., Thirion J. P., Hudson T. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992 Feb 21;68(4):799–808. doi: 10.1016/0092-8674(92)90154-5. [DOI] [PubMed] [Google Scholar]
- Carango P., Noble J. E., Marks H. G., Funanage V. L. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics. 1993 Nov;18(2):340–348. doi: 10.1006/geno.1993.1474. [DOI] [PubMed] [Google Scholar]
- Fu Y. H., Friedman D. L., Richards S., Pearlman J. A., Gibbs R. A., Pizzuti A., Ashizawa T., Perryman M. B., Scarlato G., Fenwick R. G., Jr Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science. 1993 Apr 9;260(5105):235–238. doi: 10.1126/science.8469976. [DOI] [PubMed] [Google Scholar]
- Fu Y. H., Kuhl D. P., Pizzuti A., Pieretti M., Sutcliffe J. S., Richards S., Verkerk A. J., Holden J. J., Fenwick R. G., Jr, Warren S. T. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991 Dec 20;67(6):1047–1058. doi: 10.1016/0092-8674(91)90283-5. [DOI] [PubMed] [Google Scholar]
- Fu Y. H., Pizzuti A., Fenwick R. G., Jr, King J., Rajnarayan S., Dunne P. W., Dubel J., Nasser G. A., Ashizawa T., de Jong P. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992 Mar 6;255(5049):1256–1258. doi: 10.1126/science.1546326. [DOI] [PubMed] [Google Scholar]
- Harper P. S., Dyken P. R. Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor. Lancet. 1972 Jul 8;2(7767):53–55. doi: 10.1016/s0140-6736(72)91548-6. [DOI] [PubMed] [Google Scholar]
- Höweler C. J., Busch H. F., Geraedts J. P., Niermeijer M. F., Staal A. Anticipation in myotonic dystrophy: fact or fiction? Brain. 1989 Jun;112(Pt 3):779–797. doi: 10.1093/brain/112.3.779. [DOI] [PubMed] [Google Scholar]
- Jeffreys A. J., Wilson V., Thein S. L. Hypervariable 'minisatellite' regions in human DNA. Nature. 1985 Mar 7;314(6006):67–73. doi: 10.1038/314067a0. [DOI] [PubMed] [Google Scholar]
- Kremer E. J., Pritchard M., Lynch M., Yu S., Holman K., Baker E., Warren S. T., Schlessinger D., Sutherland G. R., Richards R. I. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science. 1991 Jun 21;252(5013):1711–1714. doi: 10.1126/science.1675488. [DOI] [PubMed] [Google Scholar]
- Mahadevan M., Tsilfidis C., Sabourin L., Shutler G., Amemiya C., Jansen G., Neville C., Narang M., Barceló J., O'Hoy K. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. 1992 Mar 6;255(5049):1253–1255. doi: 10.1126/science.1546325. [DOI] [PubMed] [Google Scholar]
- Ridley R. M., Frith C. D., Farrer L. A., Conneally P. M. Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting. J Med Genet. 1991 Apr;28(4):224–231. doi: 10.1136/jmg.28.4.224. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Verkerk A. J., Pieretti M., Sutcliffe J. S., Fu Y. H., Kuhl D. P., Pizzuti A., Reiner O., Richards S., Victoria M. F., Zhang F. P. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991 May 31;65(5):905–914. doi: 10.1016/0092-8674(91)90397-h. [DOI] [PubMed] [Google Scholar]