-
2
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. & Fischbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79 (1991).
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
3
-
-
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
-
4
-
-
0026601924
-
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
-
Harley, H.G. et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355, 545-546 (1992).
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Harley, H.G.1
-
5
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton, J. et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355, 547-548 (1992).
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
-
6
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
-
Aslanidis, C. et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355, 548-551 (1992).
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
-
7
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3' untranslated region of the gene
-
Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 255, 1253-1255 (1992).
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
-
8
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu, Y.-H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1258 (1992).
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.-H.1
-
9
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983 (1993).
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
10
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr, H.T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
-
11
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13 (1994).
-
(1994)
Nature Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
-
12
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi, S. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6, 14-18 (1994).
-
(1994)
Nature Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
-
13
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu, Y.-H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047-1058 (1991).
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.-H.1
-
14
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight, S.J.L. et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74, 127-134 (1993).
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.L.1
-
15
-
-
0027240431
-
Trinucleotide repeat length instability and age of onset in Huntington's disease
-
Duyao, M. et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet. 4, 387-392 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 387-392
-
-
Duyao, M.1
-
16
-
-
0027261537
-
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
-
Snell, R.G. et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet. 4, 393-397 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 393-397
-
-
Snell, R.G.1
-
17
-
-
0027176364
-
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
-
Andrew, S.E. et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet. 4, 398-403 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 398-403
-
-
Andrew, S.E.1
-
18
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
-
Gispert, S. et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet. 4, 295-299 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 295-299
-
-
Gispert, S.1
-
19
-
-
0015251021
-
Machado disease. A hereditary ataxia in Portuguse emigrants to Massachusetts
-
Nakano, K.K., Dawson, D.M. & Spence, A. Machado disease. A hereditary ataxia in Portuguse emigrants to Massachusetts. Neurology 22, 49-55 (1972).
-
(1972)
Neurology
, vol.22
, pp. 49-55
-
-
Nakano, K.K.1
Dawson, D.M.2
Spence, A.3
-
20
-
-
0018872672
-
Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family
-
Lima, L. & Coutinho, P. Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorean Portuguese family. Neurology 30, 319-322 (1980).
-
(1980)
Neurology
, vol.30
, pp. 319-322
-
-
Lima, L.1
Coutinho, P.2
-
21
-
-
0018938538
-
Presumbly Azorean disease in a presumably non-Portuguese family
-
Healton, E.B., Brust, J.C.M., Kerr, D.L., Resor, S. & Penn, A. Presumbly Azorean disease in a presumably non-Portuguese family. Neurology 30, 1084-1089 (1980).
-
(1980)
Neurology
, vol.30
, pp. 1084-1089
-
-
Healton, E.B.1
Brust, J.C.M.2
Kerr, D.L.3
Resor, S.4
Penn, A.5
-
22
-
-
0020691438
-
Joseph disease in a non-Portuguese family
-
Sakai, T., Ohta, M. & Ishino, H. Joseph disease in a non-Portuguese family. Neurology 33, 74-80 (1983).
-
(1983)
Neurology
, vol.33
, pp. 74-80
-
-
Sakai, T.1
Ohta, M.2
Ishino, H.3
-
23
-
-
0022633691
-
Machado-Joseph-Azorean disease in India
-
Bharucha, N.E., Bharucha, E.P. & Bhabha, S.K. Machado-Joseph-Azorean disease in India. Arch. Neurol. 43, 142-144 (1986).
-
(1986)
Arch. Neurol
, vol.43
, pp. 142-144
-
-
Bharucha, N.E.1
Bharucha, E.P.2
Bhabha, S.K.3
-
24
-
-
0022478625
-
Machado-Joseph disease in a Sicilian-American family
-
Suite, N.D.A., Sequeiros, J. & Mckhan, G.M. Machado-Joseph disease in a Sicilian-American family. J. Neurogenet. 3, 177-182 (1986).
-
(1986)
J. Neurogenet
, vol.3
, pp. 177-182
-
-
Suite, N.D.A.1
Sequeiros, J.2
McKhan, G.M.3
-
25
-
-
0021719186
-
The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases
-
Barbeau, A. et al. The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases. Can. J. neurol. Sci. 11, 510-525 (1984).
-
(1984)
Can. J. neurol. Sci
, vol.11
, pp. 510-525
-
-
Barbeau, A.1
-
26
-
-
0026708036
-
Machado-Joseph disease: An autosomal dominant system degeneration
-
Rosenberg, R.N. Machado-Joseph disease: An autosomal dominant system degeneration. Mov. Dis. 3, 193-203 (1992).
-
(1992)
Mov. Dis
, vol.3
, pp. 193-203
-
-
Rosenberg, R.N.1
-
27
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama, Y. et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet. 4, 300-304 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
-
28
-
-
0028141728
-
Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14
-
Hyslop, P.S.G. et al. Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. Am. J. hum. Genet. 55, 120-125 (1994).
-
(1994)
Am. J. hum. Genet
, vol.55
, pp. 120-125
-
-
Hyslop, P.S.G.1
-
29
-
-
0002571603
-
RNA splicing
-
(eds Hames, B.D.& Glover, D.M.) (IRL press, Oxford,)
-
Krainer, A.R. & Maniatis, T. RNA splicing. in Transcription and splicing (eds Hames, B.D.& Glover, D.M.) 131-206 (IRL press, Oxford, 1988).
-
(1988)
Transcription and splicing
, pp. 131-206
-
-
Krainer, A.R.1
Maniatis, T.2
-
30
-
-
0027432418
-
Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues
-
Strong, T.V. et al. Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues. Nature Genet.5, 259-265 (1993).
-
(1993)
Nature Genet
, vol.5
, pp. 259-265
-
-
Strong, T.V.1
-
31
-
-
0027478586
-
Molecular cloning and chromosomal localization of the key subunit of the human N-Methyl-D-aspartate receptor
-
Karp, S.J., Masu, M., Eki, T., Ozawa, K. & Nakanishi, S. Molecular cloning and chromosomal localization of the key subunit of the human N-Methyl-D-aspartate receptor. J. biol. Chem. 268, 3728-3733 (1993).
-
(1993)
J. biol. Chem
, vol.268
, pp. 3728-3733
-
-
Karp, S.J.1
Masu, M.2
Eki, T.3
Ozawa, K.4
Nakanishi, S.5
-
32
-
-
0026596577
-
A mouse cdc25 homologue is differentially and developmentally expressed
-
Kakizuka, A. et al. A mouse cdc25 homologue is differentially and developmentally expressed. Genes Devel. 6, 578-590 (1992).
-
(1992)
Genes Devel
, vol.6
, pp. 578-590
-
-
Kakizuka, A.1
-
33
-
-
0040768065
-
-
2nd edn (Cold Spring Harbor Laboratory Press, New York)
-
Maniatis, T., Fritsch, E.F. & Shambrook, J. in Molecular Cloning: a Laboratory Manual2nd edn (Cold Spring Harbor Laboratory Press, New York, 1989).
-
(1989)
Molecular Cloning: A Laboratory Manual
-
-
Maniatis, T.1
Fritsch, E.F.2
Shambrook, J.3
-
34
-
-
0028196802
-
Detection of 14q32 translations in B-cell malignancies by in situ hybridization with yeast artificial chromosome clones containing the human IgH gene locus
-
Taniwaki, M. et al. Detection of 14q32 translations in B-cell malignancies by in situ hybridization with yeast artificial chromosome clones containing the human IgH gene locus. Blood 83, 2962-2969 (1994).
-
(1994)
Blood
, vol.83
, pp. 2962-2969
-
-
Taniwaki, M.1
-
35
-
-
0027368174
-
Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization
-
Taniwaki, M. et al. Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization. Cancer Genet. Cytogenet. 70, 99-102 (1993).
-
(1993)
Cancer Genet. Cytogenet
, vol.70
, pp. 99-102
-
-
Taniwaki, M.1
-
36
-
-
0027475327
-
Structure and physical map of 64 variable segments in the 3' 0.8-megabase region of the human immunoglobulin heavy-chain locus
-
Matsuda, F. et al. Structure and physical map of 64 variable segments in the 3' 0.8-megabase region of the human immunoglobulin heavy-chain locus. Nature Genet. 3, 88-94 (1993).
-
(1993)
Nature Genet
, vol.3
, pp. 88-94
-
-
Matsuda, F.1
-
37
-
-
0021180032
-
Blot hybridisation analysis of genomic DNA
-
Vandenplas, S. et al. Blot hybridisation analysis of genomic DNA. J. med. Genet. 21, 164-172 (1984).
-
(1984)
J. med. Genet
, vol.21
, pp. 164-172
-
-
Vandenplas, S.1
-
38
-
-
0025780876
-
Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RAR with a novel putative transcription factor, PML
-
Kakizuka, A. et al. Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RAR with a novel putative transcription factor, PML. Cell 66, 663-674 (1991).
-
(1991)
Cell
, vol.66
, pp. 663-674
-
-
Kakizuka, A.1
-
39
-
-
0026590966
-
IE, a70 kd protein identical to the C-terminal half of p110 NF-B: A new member of the IB family
-
Inoue, J., Kerr, L.D., Kakizuka, A. & Verma, I.M. IE, a70 kd protein identical to the C-terminal half of p110 NF-B: a new member of the IB family. Cell 68, 1109-1120 (1992).
-
(1992)
Cell
, vol.68
, pp. 1109-1120
-
-
Inoue, J.1
Kerr, L.D.2
Kakizuka, A.3
Verma, I.M.4
|