H G Harley
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Explore the profile of H G Harley including associated specialties, affiliations and a list of published articles.
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35
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1567
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Recent Articles
1.
Phillips M, Rogers M, Barnetson R, Braun C, Harley H, Myring J, et al.
Neuromuscul Disord
. 1998 Nov;
8(7):439-46.
PMID: 9829272
We describe a family with a proximal myopathy, subclinical EMG myotonia, cataracts and deafness. Transmission through two generations and down the male line confirms autosomal dominant inheritance. There was no...
2.
Poulton J, Harley H, Dasmahapatra J, Brown G, Potter C, Sykes B
J Med Genet
. 1995 Sep;
32(9):732-5.
PMID: 8544195
Neither the maternal inheritance pattern nor the early onset of congenital myotonic dystrophy are fully explained. One possible mechanism is that mitochondrial DNA (mtDNA) mutations might interact with the DM...
3.
Shaw D, McCurrach M, Rundle S, Harley H, Crow S, Sohn R, et al.
Genomics
. 1993 Dec;
18(3):673-9.
PMID: 7905855
The genomic structure and apparently complete coding sequence of the myotonic dystrophy protein kinase gene have been determined. The gene contains 15 exons distributed over about 13 kb of genomic...
4.
Reardon W, MacMillan J, Myring J, Harley H, Rundle S, Beck L, et al.
Br J Ophthalmol
. 1993 Sep;
77(9):579-83.
PMID: 8218057
Myotonic dystrophy (dystrophia myotonica), the commonest and most variable of the muscular dystrophies of adult life, has long been known to be associated with cataract, while slit-lamp examination for specific...
5.
Harley H, Rundle S, MacMillan J, Myring J, Brook J, Crow S, et al.
Am J Hum Genet
. 1993 Jun;
52(6):1164-74.
PMID: 8503448
A clinical and molecular analysis of 439 individuals affected with myotonic dystrophy, from 101 kindreds, has shown that the size of the unstable CTG repeat detected in nearly all cases...
6.
Nokelainen P, Shelbourne P, Shaw D, Brook J, Harley H, Johnson K, et al.
Clin Genet
. 1993 Apr;
43(4):190-5.
PMID: 8101149
A pair of marker loci, D19S63 and D19S51, which are tightly linked to the myotonic dystrophy (DM) locus, were used to evaluate diagnostic applicability in the Finnish population. Results were...
7.
Shaw D, Chaudhary S, Rundle S, Crow S, Brook J, Harper P, et al.
J Med Genet
. 1993 Mar;
30(3):189-92.
PMID: 8097255
We have examined the hypothesis that the severe congenital form of myotonic dystrophy is caused by genomic imprinting at the level of differential DNA methylation of maternal and paternal alleles....
8.
Myring J, Meredith A, Harley H, Kohn G, Norbury G, Harper P, et al.
J Med Genet
. 1992 Nov;
29(11):785-8.
PMID: 1453427
The results of DNA analysis for the specific mutation of myotonic dystrophy are reported in eight pregnancies (two studied retrospectively) in six families. Four results were normal; in the other...
9.
Reardon W, Harley H, Brook J, Rundle S, Crow S, Harper P, et al.
J Med Genet
. 1992 Nov;
29(11):770-3.
PMID: 1453424
A clinical and molecular study is reported of 83 patients considered to be minimally affected with myotonic dystrophy (DM). These had been identified in three ways: 60 subjects were identified...
10.
Crow S, Harley H, Brook J, Rundle S, Shaw D
Hum Mol Genet
. 1992 Sep;
1(6):451.
PMID: 1338761
No abstract available.