Shelbourne P - Search Results

1

Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19.

Buxton J, Shelbourne P, Davies J, Jones C, Perryman MB, Ashizawa T, Butler R, Brook D, Shaw D, de Jong P, et al. Buxton J, et al. Among authors: shelbourne p. Genomics. 1992 Jul;13(3):526-31. doi: 10.1016/0888-7543(92)90120-h. Genomics. 1992. PMID: 1639381

2

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, et al. Buxton J, et al. Among authors: shelbourne p. Nature. 1992 Feb 6;355(6360):547-8. doi: 10.1038/355547a0. Nature. 1992. PMID: 1346924

3

Recombination events that locate myotonic dystrophy distal to APOC2 on 19q.

Johnson K, Shelbourne P, Davies J, Buxton J, Nimmo E, Anvret M, Bonduelle M, Williamson B, Savontaus ML. Johnson K, et al. Among authors: shelbourne p. Genomics. 1989 Nov;5(4):746-51. doi: 10.1016/0888-7543(89)90116-x. Genomics. 1989. PMID: 2591962

4

Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.

Shelbourne P, Davies J, Buxton J, Anvret M, Blennow E, Bonduelle M, Schmedding E, Glass I, Lindenbaum R, Lane R, et al. Shelbourne P, et al. N Engl J Med. 1993 Feb 18;328(7):471-5. doi: 10.1056/NEJM199302183280704. N Engl J Med. 1993. PMID: 8421476 Free article.

5

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Thiele H, Bachmann H, Buxton J, Williamson B, Johnson K. Shelbourne P, et al. Hum Mol Genet. 1992 Oct;1(7):467-73. doi: 10.1093/hmg/1.7.467. Hum Mol Genet. 1992. PMID: 1307246

6

Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.

Davies J, Yamagata H, Shelbourne P, Buxton J, Ogihara T, Nokelainen P, Nakagawa M, Williamson R, Johnson K, Miki T. Davies J, et al. Among authors: shelbourne p. J Med Genet. 1992 Nov;29(11):766-9. doi: 10.1136/jmg.29.11.766. J Med Genet. 1992. PMID: 1453423 Free PMC article.

7

A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus.

Johnson K, Shelbourne P, Davies J, Buxton J, Nimmo E, Siciliano MJ, Bachinski LL, Anvret M, Harley H, Rundle S, et al. Johnson K, et al. Among authors: shelbourne p. Am J Hum Genet. 1990 Jun;46(6):1073-81. Am J Hum Genet. 1990. PMID: 1971149 Free PMC article.

8

The DM mutation; diagnostic applications in the Finnish population.

Nokelainen P, Shelbourne P, Shaw D, Brook JD, Harley HG, Johnson K, Somer H, Savontaus ML, Peltonen L. Nokelainen P, et al. Among authors: shelbourne p. Clin Genet. 1993 Apr;43(4):190-5. doi: 10.1111/j.1399-0004.1993.tb04446.x. Clin Genet. 1993. PMID: 8101149

9

Isolation and ordering of bacteriophage genomic clones corresponding to two YACs from 19q13.3.

Buxton J, Davies J, Shelbourne P, Yokobata K, Williamson R, Johnson K. Buxton J, et al. Among authors: shelbourne p. Mol Cell Probes. 1993 Feb;7(1):75-80. doi: 10.1006/mcpr.1993.1010. Mol Cell Probes. 1993. PMID: 8455645

10

Myotonic dystrophy: another case of too many repeats?

Shelbourne P, Johnson K. Shelbourne P, et al. Hum Mutat. 1992;1(3):183-9. doi: 10.1002/humu.1380010302. Hum Mutat. 1992. PMID: 1301924 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

32 results

Search Page

Filters