-
2
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
-
Aslanidis, C., Jansen, G., Amemiya, C., Shutler, G., Mahadevan, M., Tsilfidis, C., Chen, C., Alleman, J., Wormskamp, N.G., Vooijs, M., Buxton, J., Johnson, K., Smeets, H.J.M., Lennon, G.G., Carrano, A.V., Korneluk, R.G., Wieringa, B. and de Jond, P.J. (1992) Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature, 355, 548-551.
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
Jansen, G.2
Amemiya, C.3
Shutler, G.4
Mahadevan, M.5
Tsilfidis, C.6
Chen, C.7
Alleman, J.8
Wormskamp, N.G.9
Vooijs, M.10
Buxton, J.11
Johnson, K.12
Smeets, H.J.M.13
Lennon, G.G.14
Carrano, A.V.15
Korneluk, R.G.16
Wieringa, B.17
De Jond, P.J.18
-
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., McCurrach, M.E., Harley, H.G., Buckler, H.J., Church, D., Aburatani, H., Hunter, K., Stanton, V.P., Thirion, J.P., Hudson, T., Sohn, R., Zemelman, B., Snell, R.G., Rundle, S.A., Crow, S., Davies, J., Shelbourne, P., Buxton, J., Jones, C., Juvonen, V., Johnson, K., Harper, P.S., Shaw, D.J. and Housman, D.E. (1992) 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)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, H.J.4
Church, D.5
Aburatani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.P.9
Hudson, T.10
Sohn, R.11
Zemelman, B.12
Snell, R.G.13
Rundle, S.A.14
Crow, S.15
Davies, J.16
Shelbourne, P.17
Buxton, J.18
Jones, C.19
Juvonen, V.20
Johnson, K.21
Harper, P.S.22
Shaw, D.J.23
Housman, D.E.24
more..
-
4
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu, Y.H., Kuhl, D.P.A., Pizzuti, A., Fenwick, J.R.G., King, J., Rajnarayan, S., Dunne, P.W., Dubel, J., Nasser, G.A., Ashizawa, T., de Jong, P., Wieringa, B., Korneluk, R., Perryman, M.B., Epstein, H.F. and Caskey, C. (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science, 255, 1256-1258.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Kuhl, D.P.A.2
Pizzuti, A.3
Fenwick, J.R.G.4
King, J.5
Rajnarayan, S.6
Dunne, P.W.7
Dubel, J.8
Nasser, G.A.9
Ashizawa, T.10
De Jong, P.11
Wieringa, B.12
Korneluk, R.13
Perryman, M.B.14
Epstein, H.F.15
Caskey, C.16
-
5
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barcelo, J., O'Hoy, K., Leblond, S., Earle-Macdonald, J., de Jong, P.J., Wieringa, B. and Komeluk, R.G. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science, 255, 1253-1255.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
Shutler, G.4
Amemiya, C.5
Jansen, G.6
Neville, C.7
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
Leblond, S.11
Earle-Macdonald, J.12
De Jong, P.J.13
Wieringa, B.14
Komeluk, R.G.15
-
6
-
-
0028794822
-
Normal variation at the myotonic dystrophy locus in global human populations
-
Zerylnick, C., Torroni, A., Sherman, S.L. and Warren, S.T. (1995) Normal variation at the myotonic dystrophy locus in global human populations. Am. J. Hum. Genet., 56, 123-130.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 123-130
-
-
Zerylnick, C.1
Torroni, A.2
Sherman, S.L.3
Warren, S.T.4
-
7
-
-
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. and Junien, C. (1993) Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy. Lancet, 341, 237.
-
(1993)
Lancet
, vol.341
, pp. 237
-
-
Lavedan, C.1
Hofmann-Radvanyi, H.2
Rabes, J.P.3
Roume, J.4
Junien, C.5
-
8
-
-
0027957470
-
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
-
Thornton, C.A., Johnson, K. and Moxley R.T. III (1994) Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann. Neurol., 35, 104-107.
-
(1994)
Ann. Neurol.
, vol.35
, pp. 104-107
-
-
Thornton, C.A.1
Johnson, K.2
Moxley III, R.T.3
-
9
-
-
0026885037
-
Anticipation in myotonic dystrophy: New light on an old problem
-
Harper, P.S., Harley, H.G., Reardon, W. and Shaw, D.J. (1992) Anticipation in myotonic dystrophy: new light on an old problem. Am. J. Hum. Genet., 51, 10-16.
-
(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
-
10
-
-
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., Bruggenwirth, H.T., Nillesen, W., Jansen, G., Hamel, B.C., Hoppe, R.L., de Die, C.E., Howeler, C.J., van Oost, B.A., Wieringa, B., Ropers, H.H. and Smeets, H.J.M. (1993) 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)
Am. J. Hum. Genet.
, vol.53
, pp. 1016-1023
-
-
Brunner, H.G.1
Bruggenwirth, H.T.2
Nillesen, W.3
Jansen, G.4
Hamel, B.C.5
Hoppe, R.L.6
De Die, C.E.7
Howeler, C.J.8
Van Oost, B.A.9
Wieringa, B.10
Ropers, H.H.11
Smeets, H.J.M.12
-
11
-
-
0027366978
-
Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability and somatic mosaicism
-
Lavedan, C., Hofmann-Radvanyi, H., Shelbourne, P., Rabes, J.P., Duros, C., Savoy, D., Dehaupas, I., Luce, S., Johnson, K. and Junien, C. (1993) Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability and somatic mosaicism. Am. J. Hum. Genet., 52, 875-883.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 875-883
-
-
Lavedan, C.1
Hofmann-Radvanyi, H.2
Shelbourne, P.3
Rabes, J.P.4
Duros, C.5
Savoy, D.6
Dehaupas, I.7
Luce, S.8
Johnson, K.9
Junien, C.10
-
12
-
-
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. and Richards, C.S. (1994) Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology, 44, 120-122.
-
(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
-
13
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley, H.G., Rundle, S.A., MacMillan, J.C., Myring, J., Brook, J.D., Crow, S., Reardon, W., Fenton, I., Shaw, D.J. and Harper, P.S. (1993) 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)
Am. J. Hum. Genet.
, vol.52
, pp. 1164-1174
-
-
Harley, H.G.1
Rundle, S.A.2
MacMillan, J.C.3
Myring, J.4
Brook, J.D.5
Crow, S.6
Reardon, W.7
Fenton, I.8
Shaw, D.J.9
Harper, P.S.10
-
14
-
-
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., Willems, P., Coerwinkel, M., Nillesen, W., Smeets, H., Vits, L., Howeler, C., Brunner, H. and Wieringa, B. (1994) 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)
Am. J. Hum. Genet.
, vol.54
, pp. 575-585
-
-
Jansen, G.1
Willems, P.2
Coerwinkel, M.3
Nillesen, W.4
Smeets, H.5
Vits, L.6
Howeler, C.7
Brunner, H.8
Wieringa, B.9
-
15
-
-
0027257735
-
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
-
Anvret, M., Ahlberg, G., Grandell, U., Hedberg, B., Johnson, K. and Edstrom. L. (1993) Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet., 2. 1397-1400.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1397-1400
-
-
Anvret, M.1
Ahlberg, G.2
Grandell, U.3
Hedberg, B.4
Johnson, K.5
Edstrom, L.6
-
16
-
-
0027716510
-
Somatic instability of CTG repeal in myotonic dystrophy
-
Ashizawa, T., Dubel, J.R. and Harati, Y. (1993) Somatic instability of CTG repeal in myotonic dystrophy. Neurology, 43, 2674-2678.
-
(1993)
Neurology
, vol.43
, pp. 2674-2678
-
-
Ashizawa, T.1
Dubel, J.R.2
Harati, Y.3
-
17
-
-
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. and Caskey, C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet., 4, 1-8.
-
(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
-
18
-
-
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. and Richards, C.S. (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet., 56, 114-122.
-
(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
-
19
-
-
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
-
Wöhrle, D., Kennerknecht, I., Wolf, M., Enders, H., Schwemmle, S. and Steinbach, P. (1995) 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)
Hum. Mol. Genet.
, vol.4
, pp. 1147-1153
-
-
Wöhrle, D.1
Kennerknecht, I.2
Wolf, M.3
Enders, H.4
Schwemmle, S.5
Steinbach, P.6
-
20
-
-
0031984489
-
Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients
-
Martorell, L., Monckton, D.G., Gamez, J., Johnson, K.J., Gich, I., Lopez de Minain, A. and Baiget, M. (1998) Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum. Mol. Genet., 7, 307-312.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 307-312
-
-
Martorell, L.1
Monckton, D.G.2
Gamez, J.3
Johnson, K.J.4
Gich, I.5
Lopez De Minain, A.6
Baiget, M.7
-
21
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an exp anded CAG trinucleotide repeat
-
Burright, E.N., Clark, H.B., Servadio, A., Matilla,T., Feddersen, R.M., Yunis, W.S., Duvick, L.A., Zoghbi, H.Y. and Orr, H.T. (1995) SCA1 transgenic mice: a model for neurodegeneration caused by an exp anded CAG trinucleotide repeat. Cell. 82, 937-948.
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
Clark, H.B.2
Servadio, A.3
Matilla, T.4
Feddersen, R.M.5
Yunis, W.S.6
Duvick, L.A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
22
-
-
0028878844
-
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice
-
Bingham, P.M., Scott, M.O., Wang, S., McPhaul, M.J., Wilson, E.M., Garbern, J.Y., Merry, D.E. and Fischbeck, K.H. (1995) Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genet., 9, 191-196.
-
(1995)
Nature Genet.
, vol.9
, pp. 191-196
-
-
Bingham, P.M.1
Scott, M.O.2
Wang, S.3
McPhaul, M.J.4
Wilson, E.M.5
Garbern, J.Y.6
Merry, D.E.7
Fischbeck, K.H.8
-
23
-
-
9044229711
-
Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript
-
Goldberg, Y.P., Kalchman, M.A., Metlzer, M., Nasir, J., Zeisler, J., Graham, R., Koide, H.B., O'Kusky, J., Sharp, A.H., Ross, C.A., Jirik, F. and Hayden, M.R. (1996) 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)
Hum. Mol. Genet.
, vol.5
, pp. 177-185
-
-
Goldberg, Y.P.1
Kalchman, M.A.2
Metlzer, M.3
Nasir, J.4
Zeisler, J.5
Graham, R.6
Koide, H.B.7
O'Kusky, J.8
Sharp, A.H.9
Ross, C.A.10
Jirik, F.11
Hayden, M.R.12
-
24
-
-
0031038809
-
Moderate instability of a 55 CTG repeat in transgenic mice carrying a 45 kb genomic region from an affected DM patient
-
Gourdon, G., Radvanyi, F., Lia, A.S., Duros, C., Blanche, M., Abitbol, M., Junien, C. and Hofmann-Radvanyi, H. (1997) Moderate instability of a 55 CTG repeat in transgenic mice carrying a 45 kb genomic region from an affected DM patient. Nature Genet., 15, 190-192.
-
(1997)
Nature Genet.
, vol.15
, pp. 190-192
-
-
Gourdon, G.1
Radvanyi, F.2
Lia, A.S.3
Duros, C.4
Blanche, M.5
Abitbol, M.6
Junien, C.7
Hofmann-Radvanyi, H.8
-
25
-
-
0031054076
-
Hypermutable myotonic dystrophy CTG repeats in transgenic mice
-
Monckton, D.G., Coolbaugh, M.I., Ashizawa, K.T., Siciliano, M.J. and Caskey, C.T. (1997) Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nature Genet., 15, 193-196.
-
(1997)
Nature Genet.
, vol.15
, pp. 193-196
-
-
Monckton, D.G.1
Coolbaugh, M.I.2
Ashizawa, K.T.3
Siciliano, M.J.4
Caskey, C.T.5
-
26
-
-
0031056685
-
Instability of highly exp anded CAG repeats in mice transgenic for the Huntington's disease mutation
-
Mangiarini, L., Sathasivam, K., Mahal, A., Mott, R., Seller, M. and Bates, G.P. (1997) Instability of highly exp anded CAG repeats in mice transgenic for the Huntington's disease mutation. Nature Genet., 15, 197-200.
-
(1997)
Nature Genet.
, vol.15
, pp. 197-200
-
-
Mangiarini, L.1
Sathasivam, K.2
Mahal, A.3
Mott, R.4
Seller, M.5
Bates, G.P.6
-
27
-
-
0030700381
-
Increased trinucleotide repeat instability with advanced maternal age
-
Kaytor, M.D., Burright, E.N., Duvick, L.K., Zoghbi, H.Y. and Orr, H.T. (1997) Increased trinucleotide repeat instability with advanced maternal age. Hum. Mol. Genet., 6, 2135-2139.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2135-2139
-
-
Kaytor, M.D.1
Burright, E.N.2
Duvick, L.K.3
Zoghbi, H.Y.4
Orr, H.T.5
-
28
-
-
0029886294
-
Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy
-
Ishii, S., Nishio, T., Sunohara, N., Yoshihara, T., Takemura, K., Hikiji, K., Tsujino, S. and Sakuragawa, N. (1996) Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy. Hum. Genet., 98, 138-140.
-
(1996)
Hum. Genet.
, vol.98
, pp. 138-140
-
-
Ishii, S.1
Nishio, T.2
Sunohara, N.3
Yoshihara, T.4
Takemura, K.5
Hikiji, K.6
Tsujino, S.7
Sakuragawa, N.8
-
29
-
-
0025776578
-
Striking homology of the 'variable' N-terminal as well as the 'conserved core' domains of the mouse and human TATA-factors (TFIID)
-
Tamura, T., Sumita, K., Fujino, I., Aoyama, A., Horikshi, M., Hoffmann, A., Roeder, R.G., Muramatsu, M. and Mikoshiba, K. (1991) Striking homology of the 'variable' N-terminal as well as the 'conserved core' domains of the mouse and human TATA-factors (TFIID). Nucleic Acids Res., 19, 3861-3865.
-
(1991)
Nucleic Acids Res.
, vol.19
, pp. 3861-3865
-
-
Tamura, T.1
Sumita, K.2
Fujino, I.3
Aoyama, A.4
Horikshi, M.5
Hoffmann, A.6
Roeder, R.G.7
Muramatsu, M.8
Mikoshiba, K.9
-
30
-
-
0029085338
-
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period
-
Martorell, L., Martinez, J.M., Carcy, N., Johnson, K. and Baiget, M. (1995) Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J. Med. Genet., 32, 593-596.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 593-596
-
-
Martorell, L.1
Martinez, J.M.2
Carcy, N.3
Johnson, K.4
Baiget, M.5
-
31
-
-
0028912550
-
Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: When does the expansion occur?
-
Zatz, M., Passos Bueno, M.R., Cerqueira, A., Marie, S.K., Vainzof, M. and Pavanello, R.C.M. (1995) Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: When does the expansion occur? Hum. Mol. Genet., 4, 401-406.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 401-406
-
-
Zatz, M.1
Passos Bueno, M.R.2
Cerqueira, A.3
Marie, S.K.4
Vainzof, M.5
Pavanello, R.C.M.6
-
32
-
-
0030915868
-
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development
-
Martorell, L., Johnson, K. and Boucher, C.A. (1997) Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum. Mol. Genet., 6, 877-880.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 877-880
-
-
Martorell, L.1
Johnson, K.2
Boucher, C.A.3
-
33
-
-
0028339385
-
Somatic and gonodal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
-
Telenius, H., Kremer, B., Goldberg, P., Theilmann, J., Andrew, S.E., Zeisler, J., Adam, S., Greenberg, C., Ives, E.J., Clarke, L.A. and Hayden, M.R. (1994) Somatic and gonodal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nature Genet., 6, 409-414.
-
(1994)
Nature Genet.
, vol.6
, pp. 409-414
-
-
Telenius, H.1
Kremer, B.2
Goldberg, P.3
Theilmann, J.4
Andrew, S.E.5
Zeisler, J.6
Adam, S.7
Greenberg, C.8
Ives, E.J.9
Clarke, L.A.10
Hayden, M.R.11
-
34
-
-
9444262436
-
Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease
-
Lopes-Cendes, I., Maciel, P., Kish, S., Gaspar, C., Robitaille, Y., Clark, H., Koeppen, A., Nance, M., Schut, L., Silveira, I., Coutinho, P., Sequeiros, J. and Rouleau, G. (1996) Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann. Neurol., 40, 199-206.
-
(1996)
Ann. Neurol.
, vol.40
, pp. 199-206
-
-
Lopes-Cendes, I.1
Maciel, P.2
Kish, S.3
Gaspar, C.4
Robitaille, Y.5
Clark, H.6
Koeppen, A.7
Nance, M.8
Schut, L.9
Silveira, I.10
Coutinho, P.11
Sequeiros, J.12
Rouleau, G.13
-
35
-
-
0031606735
-
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3 Machado-Joseph-disease
-
Cancel, G., Gourfinkelan, I., Stevanin, G., Didierjean, O., Abbas, N., Hirsch, E., Agid, Y. and Brice, A. (1998) Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3 Machado-Joseph-disease. Hum. Mutat., 11, 23-27.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 23-27
-
-
Cancel, G.1
Gourfinkelan, I.2
Stevanin, G.3
Didierjean, O.4
Abbas, N.5
Hirsch, E.6
Agid, Y.7
Brice, A.8
-
36
-
-
0029988921
-
Somatic mosaicism of exp anded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic instability
-
Takano, H., Onodera, O., Takahashi, H., Igarashi, S., Yamada, M., Oyake, M., Ikeuchi, T., Koide, R., Tanaka, H., Iwabuchi, K. and Tsuji, S. (1996) Somatic mosaicism of exp anded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. Am. J. Hum. Genet., 58, 1212-1222.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1212-1222
-
-
Takano, H.1
Onodera, O.2
Takahashi, H.3
Igarashi, S.4
Yamada, M.5
Oyake, M.6
Ikeuchi, T.7
Koide, R.8
Tanaka, H.9
Iwabuchi, K.10
Tsuji, S.11
-
37
-
-
0028807448
-
Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes
-
Kang, S., Ohshima, K., Shimizu, M., Amirhaeri, S. and Wells, R.D. (1995) Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes. J. Biol. Chem., 270, 27014-27021.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 27014-27021
-
-
Kang, S.1
Ohshima, K.2
Shimizu, M.3
Amirhaeri, S.4
Wells, R.D.5
-
38
-
-
0029915847
-
CTG triplet repeats from the myotonic dystrophy gene are expanded in Escherichia coli distal to the replication origin as a single large event
-
Kang, S., Ohshima, K., Jaworski, A. and Wells, R.D. (1996) CTG triplet repeats from the myotonic dystrophy gene are expanded in Escherichia coli distal to the replication origin as a single large event. J. Mol. Biol., 258, 543-547.
-
(1996)
J. Mol. Biol.
, vol.258
, pp. 543-547
-
-
Kang, S.1
Ohshima, K.2
Jaworski, A.3
Wells, R.D.4
-
39
-
-
0028788635
-
Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases
-
Jaworski, A., Rosche, W.A., Gellibolian, R., Kang, S., Shimizu, M., Bowater, R.P., Sinden, R.R. and Wells, R.D. (1995) Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases. Proc. Nutl Acad. Sci. USA. 92, 11019-11023.
-
(1995)
Proc. Nutl Acad. Sci. USA
, vol.92
, pp. 11019-11023
-
-
Jaworski, A.1
Rosche, W.A.2
Gellibolian, R.3
Kang, S.4
Shimizu, M.5
Bowater, R.P.6
Sinden, R.R.7
Wells, R.D.8
-
40
-
-
0030947319
-
Instability of CAG and CTG trinucleotide repeats in Saccharomyces cerevisiae
-
Miret, J.J., Pessoa-Brandao, L. and Lahue, R.S. (1997) Instability of CAG and CTG trinucleotide repeats in Saccharomyces cerevisiae. Mol. Cell. Biol., 17, 3382-3387.
-
(1997)
Mol. Cell. Biol.
, vol.17
, pp. 3382-3387
-
-
Miret, J.J.1
Pessoa-Brandao, L.2
Lahue, R.S.3
-
41
-
-
0031057683
-
Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast
-
Schweitzer, J.K. and Livingston, D.M. (1997) Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast. Hum. Mol. Genet., 6, 349-355.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 349-355
-
-
Schweitzer, J.K.1
Livingston, D.M.2
-
42
-
-
0030895078
-
Stability of the CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome
-
Freudenreich, C.H., Stavenhagen, J.B. and Zakian, V.A. (1997) Stability of the CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol. Cell. Biol., 17, 2090-2098.
-
(1997)
Mol. Cell. Biol.
, vol.17
, pp. 2090-2098
-
-
Freudenreich, C.H.1
Stavenhagen, J.B.2
Zakian, V.A.3
-
43
-
-
0032488872
-
Expansion and length-dependent fragility of CTG repeats in yeast
-
Freudenreich, C.H., Kantrow, S.M. and Zakian, V.A. (1998) Expansion and length-dependent fragility of CTG repeats in yeast. Science, 279, 853-856.
-
(1998)
Science
, vol.279
, pp. 853-856
-
-
Freudenreich, C.H.1
Kantrow, S.M.2
Zakian, V.A.3
-
44
-
-
0031965224
-
Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation
-
Schweitzer, J.K. and Livingston, D.M. (1998) Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation. Hum. Mol. Genet., 7, 69-74.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 69-74
-
-
Schweitzer, J.K.1
Livingston, D.M.2
-
45
-
-
70449550192
-
Cell proliferation and migration as revealed by radioautography after injection of thymidine-H3 into male rats and mice
-
Messier, B. and Leblond, C.P. (1960) Cell proliferation and migration as revealed by radioautography after injection of thymidine-H3 into male rats and mice. Am. J. Anat., 106, 247-265.
-
(1960)
Am. J. Anat.
, vol.106
, pp. 247-265
-
-
Messier, B.1
Leblond, C.P.2
-
46
-
-
0029008288
-
Hairpins are formed by the single DNA strands of the fragile X triplet repeats: Structure and biological implications
-
Chen, X.A., Mariappan, S.V.S., Catasti, P., Ratliff, R., Moyzis, R.K., Laayoun, A., Smith, S.S., Bradbury, E.M. and Gupta, G. (1995) Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications. Proc. Natl Acad. Sci. USA, 92, 5199-5203.
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 5199-5203
-
-
Chen, X.A.1
Mariappan, S.V.S.2
Catasti, P.3
Ratliff, R.4
Moyzis, R.K.5
Laayoun, A.6
Smith, S.S.7
Bradbury, E.M.8
Gupta, G.9
-
47
-
-
0029053371
-
Trinucleotide repeats that expand in human disease form hairpin structures in vitro
-
Gacy, A.M., Goellner, G., Juranic, N., Macura, S. and McMurray, C.T.(1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell, 81, 533-540.
-
(1995)
Cell
, vol.81
, pp. 533-540
-
-
Gacy, A.M.1
Goellner, G.2
Juranic, N.3
Macura, S.4
McMurray, C.T.5
-
48
-
-
0030752987
-
Human MSH2 hinds to trinucleotide repeat DNA structures associated with neurodegenerative diseases
-
Pearson, C.E., Ewel, A., Acharya, S., Fishel, R.A. and Sinden, R.R. (1997) Human MSH2 hinds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum. Mol. Genet., 7, 1117-1123.
-
(1997)
Hum. Mol. Genet.
, vol.7
, pp. 1117-1123
-
-
Pearson, C.E.1
Ewel, A.2
Acharya, S.3
Fishel, R.A.4
Sinden, R.R.5
-
49
-
-
0030789980
-
Transcription increases the deletion frequency of long CTGCAG triplet repeats from plasmids in Escherichia coli
-
Bowater, R.P., Jaworski, A., Larson, J.E., Parniewski, P. and Wells, R.D. (1997) Transcription increases the deletion frequency of long CTGCAG triplet repeats from plasmids in Escherichia coli. Nucleic Acids Res., 25, 2861-2868.
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 2861-2868
-
-
Bowater, R.P.1
Jaworski, A.2
Larson, J.E.3
Parniewski, P.4
Wells, R.D.5
-
50
-
-
0025141652
-
Repeat unit sequence variation in minisatellites: A novel source of polymorphism for studying allelic variation and mutation by single molecule analysis
-
Jeffreys, A., Neumann, R. and Wilson, V. (1990) Repeat unit sequence variation in minisatellites: a novel source of polymorphism for studying allelic variation and mutation by single molecule analysis. Cell, 60, 473-485.
-
(1990)
Cell
, vol.60
, pp. 473-485
-
-
Jeffreys, A.1
Neumann, R.2
Wilson, V.3
|