-
1
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide repeat (CTG) at the 3′ end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide repeat (CTG) at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburatani, H.6
-
2
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntington Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
3
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a break-point region exhibiting length variation in fragile X syndrome
-
Verkerk AJMH, Pieretti M, Sutclifie JS, Fu YH, Kuhl DP, Pizzuti A, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a break-point region exhibiting length variation in fragile X syndrome. Cell 1991;65: 905-14.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutclifie, J.S.3
Fu, Y.H.4
Kuhl, D.P.5
Pizzuti, A.6
-
4
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley HG, Rundle SA, Mac Millan JC, Myring J, Brook JD, Crow S, et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993;52: 1164-743.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1164-1743
-
-
Harley, H.G.1
Rundle, S.A.2
Mac Millan, J.C.3
Myring, J.4
Brook, J.D.5
Crow, S.6
-
5
-
-
0027375859
-
Allelic instability in mitosis: A unified model for dominant disorders
-
Zheng CJ, Byers B, Moolgavkar SH. Allelic instability in mitosis: a unified model for dominant disorders. Proc Natl Acad Sci USA 1993;90:10178-82.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 10178-10182
-
-
Zheng, C.J.1
Byers, B.2
Moolgavkar, S.H.3
-
6
-
-
0027491810
-
Anticipation in bipolar affective disorders
-
McInnis MG, McMahon FJ, Chase GA, Simpson SG, Ross CA, De Paulo JR. Anticipation in bipolar affective disorders. Am J Hum Genet 1993;53:385-90.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 385-390
-
-
McInnis, M.G.1
McMahon, F.J.2
Chase, G.A.3
Simpson, S.G.4
Ross, C.A.5
De Paulo, J.R.6
-
7
-
-
0028215549
-
Evidence for anticipation in schizophrenia
-
Basset AS, Honer WG. Evidence for anticipation in schizophrenia. Am J Hum Genet 1994;54:864-70.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 864-870
-
-
Basset, A.S.1
Honer, W.G.2
-
8
-
-
0028606378
-
Does genetic anticipation occur in familial rheumatoid arthritis?
-
Deighton C Heslop P, McDonagh J, Walker D, Thomson G. Does genetic anticipation occur in familial rheumatoid arthritis? Ann Rheum Dis 1994;53:833-5.
-
(1994)
Ann Rheum Dis
, vol.53
, pp. 833-835
-
-
Deighton, C.1
Heslop, P.2
McDonagh, J.3
Walker, D.4
Thomson, G.5
-
9
-
-
0029927577
-
Preliminary evidence for genetic anticipation in Crohn's disease
-
Polito II JM, Rees RC, Childs B, Mendeloff AI, Harris ML, Bayless TM. Preliminary evidence for genetic anticipation in Crohn's disease. Lancet 1996;347:798-800.
-
(1996)
Lancet
, vol.347
, pp. 798-800
-
-
Polito II, J.M.1
Rees, R.C.2
Childs, B.3
Mendeloff, A.I.4
Harris, M.L.5
Bayless, T.M.6
-
10
-
-
0001199647
-
Generalised osteoarthritis and Heberdens nodes
-
Kellgren JH, Moore R. Generalised osteoarthritis and Heberdens nodes. BMJ 1952;1:81-7.
-
(1952)
BMJ
, vol.1
, pp. 81-87
-
-
Kellgren, J.H.1
Moore, R.2
-
11
-
-
0000856581
-
Heberdens nodes the mechanism of inheritance in hypertrophic arthritis of the fingers
-
Stecher RM, Hersch AH. Heberdens nodes the mechanism of inheritance in hypertrophic arthritis of the fingers. J Clin Invest 1994;23:699-704.
-
(1994)
J Clin Invest
, vol.23
, pp. 699-704
-
-
Stecher, R.M.1
Hersch, A.H.2
-
13
-
-
0013594392
-
Genetic factors in osteoarthritis
-
Nuki G, ed. Tunbridge Wells: Pitman
-
Harper P, Nuki G. Genetic factors in osteoarthritis. In: Nuki G, ed. The aetiopathogenesis of osteoarthritis. Tunbridge Wells: Pitman, 1980:184-201.
-
(1980)
The Aetiopathogenesis of Osteoarthritis
, pp. 184-201
-
-
Harper, P.1
Nuki, G.2
-
14
-
-
0029925223
-
Genetic influences on osteoarthritis in females: A twin study
-
Spector TD, Cicuttini F, Baker J, Loughlin JA, Hart DJ. Genetic influences on osteoarthritis in females: a twin study. BMJ 1996;312:940-3.
-
(1996)
BMJ
, vol.312
, pp. 940-943
-
-
Spector, T.D.1
Cicuttini, F.2
Baker, J.3
Loughlin, J.A.4
Hart, D.J.5
-
15
-
-
0029882325
-
Association of two loci on chromosome 2q with nodal osteoarthritis
-
Wright GD, Hughes AE, Regan M, Doherty M. Association of two loci on chromosome 2q with nodal osteoarthritis. Ann Rheum Dis 1996;55:317-19.
-
(1996)
Ann Rheum Dis
, vol.55
, pp. 317-319
-
-
Wright, G.D.1
Hughes, A.E.2
Regan, M.3
Doherty, M.4
-
17
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton J, Shelbourne P, Davies J, Jones C, Tongeren van T, Aslanidis C, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-8.
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
Jones, C.4
Tongeren Van, T.5
Aslanidis, C.6
-
18
-
-
0026601924
-
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
-
Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992;355:545-6.
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Harley, H.G.1
Brook, J.D.2
Rundle, S.A.3
Crow, S.4
Reardon, W.5
Buckler, A.J.6
-
19
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
-
Aslanidis C Jansen G, Amemiya C, Shutler G, Mahade van M, Tsilfidis C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992;355:545-6.
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Aslanidis, C.1
Jansen, G.2
Amemiya, C.3
Shutler, G.4
Mahade Van, M.5
Tsilfidis, C.6
-
20
-
-
23444458688
-
Triplet repeat genes raise questions
-
Maddox J. Triplet repeat genes raise questions. Nature 1994;368:685.
-
(1994)
Nature
, vol.368
, pp. 685
-
-
Maddox, J.1
-
21
-
-
0023779388
-
Huntington disease in Georgia: Age at onet
-
Adams P, Falek A, Arnold J. Huntington disease in Georgia: age at onet. Am J Hum Genet 1988;43:695-704.
-
(1988)
Am J Hum Genet
, vol.43
, pp. 695-704
-
-
Adams, P.1
Falek, A.2
Arnold, J.3
-
22
-
-
0027486670
-
Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome
-
McConkie-Rosell A, Lachiewicz AM, Spiridigliozzi GA, Tarleton J, Schoenwald S, Phelan MC, et al. Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet 1993;53:800-9.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 800-809
-
-
McConkie-Rosell, A.1
Lachiewicz, A.M.2
Spiridigliozzi, G.A.3
Tarleton, J.4
Schoenwald, S.5
Phelan, M.C.6
-
23
-
-
0027493672
-
Discordance for autoimmunity in monozygotic twins. Are "identical" twins really identical?
-
Gregerson PK. Discordance for autoimmunity in monozygotic twins. Are "identical" twins really identical? Arthritis Rheum 1993;36:1185-92.
-
(1993)
Arthritis Rheum
, vol.36
, pp. 1185-1192
-
-
Gregerson, P.K.1
|