-
1
-
-
0029837246
-
Myotonic Dystrophy: Will the real gene please step forward!
-
Harris, H., Moncrieff, C. & Johnson, K. Myotonic Dystrophy: will the real gene please step forward! Hum. Mol. Genet. 5, 1417-1423 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1417-1423
-
-
Harris, H.1
Moncrieff, C.2
Johnson, K.3
-
2
-
-
0027410928
-
Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy
-
Lavedan, C., Hofmann-Radvanyi, H., Rabes, J.P., Roume, J. & Junien, C. Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy. Lancet 341, 237 (1993).
-
(1993)
Lancet
, vol.341
, pp. 237
-
-
Lavedan, C.1
Hofmann-Radvanyi, H.2
Rabes, J.P.3
Roume, J.4
Junien, C.5
-
3
-
-
0027957470
-
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
-
Thornton, C.A., Johnson, K. & Moxley, R.T.r. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann. Neurol. 35, 104-107 (1994).
-
(1994)
Ann. Neurol.
, vol.35
, pp. 104-107
-
-
Thornton, C.A.1
Johnson, K.2
Moxley, R.T.R.3
-
4
-
-
0026885037
-
Anticipation in myotonic dystrophy: New light on an old problem
-
Harper, P.S., Harley, H.G., Reardon, W. & Shaw, D.J. Anticipation in myotonic dystrophy: new light on an old problem. Am. J. Hum. Genet. 51, 10-16 (1992).
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 10-16
-
-
Harper, P.S.1
Harley, H.G.2
Reardon, W.3
Shaw, D.J.4
-
5
-
-
0027420436
-
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)
-
Brunner, H.G. et al. Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am. J. Hum. Genet. 53, 1016-1023 (1993).
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 1016-1023
-
-
Brunner, H.G.1
-
6
-
-
0027366978
-
Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism
-
Lavedan, C. et al. Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am. J. Hum. Genet. 52, 875-883 (1993).
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 875-883
-
-
Lavedan, C.1
-
7
-
-
0028058252
-
Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring
-
Ashizawa, T., Dunne, P.W., Ward, P.A., Seltzer, W.K. & Richards, C.S. Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology 44, 120-122 (1994).
-
(1994)
Neurology
, vol.44
, pp. 120-122
-
-
Ashizawa, T.1
Dunne, P.W.2
Ward, P.A.3
Seltzer, W.K.4
Richards, C.S.5
-
8
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley, H.G. et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am. J. Hum. Genet. 52, 1164-1174 (1993).
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 1164-1174
-
-
Harley, H.G.1
-
9
-
-
0028355538
-
Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm
-
Jansen, G. et al. Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am. J. Hum. Genet. 54, 575-585 (1994).
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 575-585
-
-
Jansen, G.1
-
10
-
-
0027257735
-
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
-
Anvret, M. et al. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet. 2, 1397-1400 (1993).
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1397-1400
-
-
Anvret, M.1
-
11
-
-
0027716510
-
Somatic instability of CTG repeat in myotonic dystrophy
-
Ashizawa, T., Dubel, J.R. & Harati, Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43, 2674-2678 (1993).
-
(1993)
Neurology
, vol.43
, pp. 2674-2678
-
-
Ashizawa, T.1
Dubel, J.R.2
Harati, Y.3
-
12
-
-
0028873248
-
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
-
Monckton, D.G., Wong, L.J.C., Ashizawa, T. & Caskey, C.T. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet. 4, 1-8 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1-8
-
-
Monckton, D.G.1
Wong, L.J.C.2
Ashizawa, T.3
Caskey, C.T.4
-
13
-
-
0029019623
-
Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability
-
Wohrle, D. et al. Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum. Mol. Genet. 4, 1147-1153 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1147-1153
-
-
Wohrle, D.1
-
14
-
-
0028890669
-
Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
-
Wong, L.J.C., Ashizawa, T., Monckton, D.G., Caskey, C.T. & Richards, C.S. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet. 56, 114-122 (1995).
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 114-122
-
-
Wong, L.J.C.1
Ashizawa, T.2
Monckton, D.G.3
Caskey, C.T.4
Richards, C.S.5
-
15
-
-
0028878844
-
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice
-
Bingham, P.M. et al. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genet. 9, 191-196 (1995).
-
(1995)
Nature Genet.
, vol.9
, pp. 191-196
-
-
Bingham, P.M.1
-
16
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright, E.N. et al. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82, 937-948 (1995).
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
-
17
-
-
9044229711
-
Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript
-
Goldberg, Y.P. et al. Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum. Mol. Genet. 5, 177-185 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 177-185
-
-
Goldberg, Y.P.1
-
18
-
-
0026895235
-
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs
-
Jansen, G. et al. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nature Genet. 1, 261-266 (1992).
-
(1992)
Nature Genet.
, vol.1
, pp. 261-266
-
-
Jansen, G.1
-
19
-
-
0028818586
-
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat
-
Boucher, C.A. et al. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum. Mol. Genet. 4, 1919-1925 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1919-1925
-
-
Boucher, C.A.1
-
20
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook, J.D. et al. 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 68, 799-808 (1992).
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
-
21
-
-
0027742295
-
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
-
Fishel, R. et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75, 1027-1038 (1993).
-
(1993)
Cell
, vol.75
, pp. 1027-1038
-
-
Fishel, R.1
-
22
-
-
0027306173
-
Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair
-
Strand, M., Prolla, T.A., Liskay, R.M. & Petes, T.D. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365, 274-276 (1993).
-
(1993)
Nature
, vol.365
, pp. 274-276
-
-
Strand, M.1
Prolla, T.A.2
Liskay, R.M.3
Petes, T.D.4
-
23
-
-
0027251874
-
Origin of the expansion mutation in myotonic dystrophy
-
Imbert, G., Kretz, C., Johnson, K. & Mandel, J.L. Origin of the expansion mutation in myotonic dystrophy. Nature Genet. 4, 72-76 (1993).
-
(1993)
Nature Genet.
, vol.4
, pp. 72-76
-
-
Imbert, G.1
Kretz, C.2
Johnson, K.3
Mandel, J.L.4
-
24
-
-
0027177689
-
A tetranucleotide repeat mouse minisatellite displaying substantial somatic instability during early preimplantation development
-
Gibbs, M., Collick, A., Kelly, R.G. & Jeffreys, A.J. A tetranucleotide repeat mouse minisatellite displaying substantial somatic instability during early preimplantation development. Genomics 17, 121-128 (1993).
-
(1993)
Genomics
, vol.17
, pp. 121-128
-
-
Gibbs, M.1
Collick, A.2
Kelly, R.G.3
Jeffreys, A.J.4
-
25
-
-
0027256028
-
Intergenerational stability of the myotonic dystrophy protomutation
-
Barcelo, J.M., Mahadevan, M.S., Tsilfidis, C., MacKenzie, A.E. & Korneluk, R.G. Intergenerational stability of the myotonic dystrophy protomutation. Hum. Mol. Genet. 2, 705-709 (1993).
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 705-709
-
-
Barcelo, J.M.1
Mahadevan, M.S.2
Tsilfidis, C.3
MacKenzie, A.E.4
Korneluk, R.G.5
-
26
-
-
0025266778
-
Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada)
-
Mathieu, J. Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). Neurology 40, 839-842 (1990).
-
(1990)
Neurology
, vol.40
, pp. 839-842
-
-
Mathieu, J.1
-
27
-
-
0029099989
-
Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis
-
Baker, S.M. et al. Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 82, 309-319 (1995).
-
(1995)
Cell
, vol.82
, pp. 309-319
-
-
Baker, S.M.1
-
28
-
-
8944232867
-
Involvement of mouse MIH1 in DNA mismatch repair and meiotic crossing over
-
Baker, S.M. et al. Involvement of mouse MIH1 in DNA mismatch repair and meiotic crossing over. Nature Genet. 13, 336-342 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 336-342
-
-
Baker, S.M.1
-
29
-
-
0029101616
-
Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer
-
de Wind, N., Dekker, M., Berns, A., Radman, M. & te Riele, H. Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer. Cell 82, 321-330 (1995).
-
(1995)
Cell
, vol.82
, pp. 321-330
-
-
De Wind, N.1
Dekker, M.2
Berns, A.3
Radman, M.4
Te Riele, H.5
-
30
-
-
0028029838
-
Analysis of a 70 kb segment of DNA containing the human zeta and alpha- Globin genes linked to their regulatory element (HS-40) in transgenic mice
-
Gourdon, G., Sharpe, J.A., Wells, D., Wood, W.G. & Higgs, D.R. Analysis of a 70 kb segment of DNA containing the human zeta and alpha-globin genes linked to their regulatory element (HS-40) in transgenic mice. Nucl. Acids Res. 22, 4139-4147 (1994).
-
(1994)
Nucl. Acids Res.
, vol.22
, pp. 4139-4147
-
-
Gourdon, G.1
Sharpe, J.A.2
Wells, D.3
Wood, W.G.4
Higgs, D.R.5
|