-
1
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano,V., Montermini,L., Moltó,M.D., Pianese,L., Cossée,M., Cavalcanti,E., Monrós,F., Rodius,F., Duclos,F., Monticelli,A. et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271, 1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltó, M.D.3
Pianese, L.4
Cossée, M.5
Cavalcanti, E.6
Monrós, F.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
-
2
-
-
33845671228
-
-
Copyright University of Washington, Seattle, WA, USA
-
Bidichandani,S.I. and Ashizawa,T. (2002) Friedreich ataxia, GeneReviews: Genetic Disease Online Reviews of GeneTests-GeneClinics. Copyright University of Washington, Seattle, WA, USA.
-
(2002)
Friedreich Ataxia, GeneReviews: Genetic Disease Online Reviews of GeneTests-GeneClinics
-
-
Bidichandani, S.I.1
Ashizawa, T.2
-
3
-
-
8544240144
-
The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
-
Montermini,L., Andermann,E., Labuda,M., Richter,A, Pandolfo,M., Cavalcanti,F., Pianese,L., Iodice,L., Farina,G., Monticelli,A. et al.(1997) The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum. Mol. Genet., 6, 1261-1266.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1261-1266
-
-
Montermini, L.1
Andermann, E.2
Labuda, M.3
Richter, A.4
Pandolfo, M.5
Cavalcanti, F.6
Pianese, L.7
Iodice, L.8
Farina, G.9
Monticelli, A.10
-
4
-
-
0030739437
-
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations
-
Cossée,M., Schmitt,M., Campuzano,V., Reutenauer,L., Moutou,C., Mandel,J.L. and Koenig.M. (1997) Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc. Natl Acad. Sci., 94, 7452-7457.
-
(1997)
Proc. Natl. Acad. Sci.
, vol.94
, pp. 7452-7457
-
-
Cossée, M.1
Schmitt, M.2
Campuzano, V.3
Reutenauer, L.4
Moutou, C.5
Mandel, J.L.6
Koenig, M.7
-
5
-
-
0031941447
-
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
-
Bidichandani,S.I., Ashizawa,T. and Patel,P.I. (1998) The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am. J. Hum. Genet., 62, 111-121.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 111-121
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
6
-
-
0032486276
-
Inhibitory effects of expanded GAA•TTC triplet repeats from intron 1 of the Friedreich ataxia gene on transcription and replication in vivo
-
Ohshima,K., Montermini,L., Wells,R.D. and Pandolfo,M. (1998) Inhibitory effects of expanded GAA•TTC triplet repeats from intron 1 of the Friedreich ataxia gene on transcription and replication in vivo. J. Biol. Chem., 273, 14588-14595.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 14588-14595
-
-
Ohshima, K.1
Montermini, L.2
Wells, R.D.3
Pandolfo, M.4
-
7
-
-
0034660695
-
The GAA•TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner
-
Grabczyk,E. and Usdin, K (2000) The GAA•TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res., 28, 2815-2822.
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 2815-2822
-
-
Grabczyk, E.1
Usdin, K.2
-
8
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
Campuzano,V., Montermini,L., Lutz,Y., Cova,L., Hindelang,C., Jiralespong,S., Trottier,Y., Kish,S.J., Faucheux,B., Trouillas,P. et al. (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum. Mol. Genet., 6, 1771-1780.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
Cova, L.4
Hindelang, C.5
Jiralespong, S.6
Trottier, Y.7
Kish, S.J.8
Faucheux, B.9
Trouillas, P.10
-
9
-
-
0035920101
-
Sticky DNA, a self-associated complex formed at long GAA•TTC repeats in intron 1 of the frataxin gene, inhibits transcription
-
Sakamoto,N., Ohshima,K., Montermini,L., Pandolfo,M. and Wells,R.D. (2001) Sticky DNA, a self-associated complex formed at long GAA•TTC repeats in intron 1 of the frataxin gene, inhibits transcription. J. Biol. Chem., 276, 27171-27177.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 27171-27177
-
-
Sakamoto, N.1
Ohshima, K.2
Montermini, L.3
Pandolfo, M.4
Wells, R.D.5
-
10
-
-
0031739916
-
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: Pedigree studies and analysis of sperm from patients with Friedreich's ataxia
-
De Michele,G., Cavalcanti,F., Criscuolo,C., Pianese,L., Monticelli,A., Filla,A and Cocozza,S. (1998) Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. Hum. Mol. Genet., 7, 1901-1906.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1901-1906
-
-
De Michele, G.1
Cavalcanti, F.2
Criscuolo, C.3
Pianese, L.4
Monticelli, A.5
Filla, A.6
Cocozza, S.7
-
11
-
-
0030862745
-
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
-
Monrós,E., Moltó,M.D., Martinez,F., Cañizares,J., Blanca,J., Vilchez,J.J., Prieto,F., de Frutos,R. and Palau,F. (1997) Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am. J. Hum. Genet., 61, 101-110.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 101-110
-
-
Monrós, E.1
Moltó, M.D.2
Martinez, F.3
Cañizares, J.4
Blanca, J.5
Vilchez, J.J.6
Prieto, F.7
de Frutos, R.8
Palau, F.9
-
12
-
-
0031009267
-
n, tract in the Friedreich ataxia (STM7) gene
-
n, tract in the Friedreich ataxia (STM7) gene. Hum. Genet., 99, 834-836.
-
(1997)
Hum. Genet.
, vol.99
, pp. 834-836
-
-
Epplen, C.1
Epplen, J.T.2
Frank, G.3
Miterski, B.4
Santos, E.J.5
Schols, L.6
-
13
-
-
0031816520
-
Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene
-
Delatycki,M.B., Paris,D., Gardner,R.J., Forshaw,K., Nicholson,G.A., Nassif,N., Williamson,R. and Forrest,S.M. (1998) Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. J. Med. Genet., 35, 713-716.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 713-716
-
-
Delatycki, M.B.1
Paris, D.2
Gardner, R.J.3
Forshaw, K.4
Nicholson, G.A.5
Nassif, N.6
Williamson, R.7
Forrest, S.M.8
-
14
-
-
0036713922
-
The GAA triplet-repeat shows a high level of somatic instability in vivo, with a significant predilection for large contractions
-
Sharma,R.. Bhatti,S., Gómez,M., Clark,R.M., Murray,C., Ashizawa,T. and Bidichandani,S.I. (2002) The GAA triplet-repeat shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum. Mol. Genet., 11, 2175-2187.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2175-2187
-
-
Sharma, R.1
Bhatti, S.2
Gómez, M.3
Clark, R.M.4
Murray, C.5
Ashizawa, T.6
Bidichandani, S.I.7
-
15
-
-
0034640011
-
Fourteen and counting: Unraveling trinucleotide repeat diseases
-
Cummings,C.J. and Zoghbi,H.Y. (2000) Fourteen and counting: unraveling trinucleotide repeat diseases. Hum. Mol. Genet. 9, 909-916.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 909-916
-
-
Cummings, C.J.1
Zoghbi, H.Y.2
-
16
-
-
0035201633
-
The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders
-
Bowater,R.P. and Wells,R.D. (2001) The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders. Prog. Nucleic Acid Res. Mol. Biol., 66, 159-202.
-
(2001)
Prog. Nucleic Acid Res. Mol. Biol.
, vol.66
, pp. 159-202
-
-
Bowater, R.P.1
Wells, R.D.2
-
17
-
-
0029035379
-
Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E.coli
-
Kang,S., Jaworski,A., Ohshima,K. and Wells,R.D. (1995) Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E.coli. Nature Genet. 10, 213-218.
-
(1995)
Nature Genet.
, vol.10
, pp. 213-218
-
-
Kang, S.1
Jaworski, A.2
Ohshima, K.3
Wells, R.D.4
-
18
-
-
0030725454
-
Trinucleotide repeats affect DNA replication in vivo
-
Samadashwily,S.M., Raca,G. and Mirkin,S.M. (1997) Trinucleotide repeats affect DNA replication in vivo. Nature Genet. 17, 298-304.
-
(1997)
Nature Genet.
, vol.17
, pp. 298-304
-
-
Samadashwily, S.M.1
Raca, G.2
Mirkin, S.M.3
-
19
-
-
0032514990
-
CTG repeats show bimodal amplification in E.coli
-
Sarkar,P.S., Chang,H.C., Boudi,F.B. and Reddy,S. (1998) CTG repeats show bimodal amplification in E.coli. Cell, 95, 531-540.
-
(1998)
Cell
, vol.95
, pp. 531-540
-
-
Sarkar, P.S.1
Chang, H.C.2
Boudi, F.B.3
Reddy, S.4
-
20
-
-
0030895078
-
Stability of a 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 a 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
-
21
-
-
0032514711
-
Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae
-
Miret,J.J., Pessoa-Brandão,L. and Lahue,R.S. (1998) Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc. Natl Acad. Sci. USA, 95, 12438-12443.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 12438-12443
-
-
Miret, J.J.1
Pessoa-Brandão, L.2
Lahue, R.S.3
-
22
-
-
0029958255
-
Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae
-
Maurer,D.J., O'Callaghan,B.L. and Livingston,D.M. (1996) Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae. Mol. Cell. Biol., 16, 6617-6622.
-
(1996)
Mol. Cell. Biol.
, vol.16
, pp. 6617-6622
-
-
Maurer, D.J.1
O'Callaghan, B.L.2
Livingston, D.M.3
-
23
-
-
0029983269
-
Cloning, characterization, and properties of plasmids containing CGG triplet repeats from the FMR1 gene
-
Shimizu,M., Gellibolian,R., Oostra,B.A. and Wells,R.D. (1996) Cloning, characterization, and properties of plasmids containing CGG triplet repeats from the FMR1 gene. J. Mol. Biol., 258, 614-626.
-
(1996)
J. Mol. Biol.
, vol.258
, pp. 614-626
-
-
Shimizu, M.1
Gellibolian, R.2
Oostra, B.A.3
Wells, R.D.4
-
24
-
-
0032524466
-
Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure
-
Hirst,M.C. and White,P.J. (1998) Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure. Nucleic Acids Res., 26, 2353-2358.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 2353-2358
-
-
Hirst, M.C.1
White, P.J.2
-
25
-
-
0032771002
-
Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism
-
White,P.J., Borts,R.H. and Hirst,M.C. (1999) Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism. Mol. Cell. Biol. 19, 5675-84.
-
(1999)
Mol. Cell. Biol.
, vol.19
, pp. 5675-5684
-
-
White, P.J.1
Borts, R.H.2
Hirst, M.C.3
-
26
-
-
0034017208
-
CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae
-
Balakumaran,B.S., Freudenreich,C.H. and Zakian,V.A. (2000) CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae. Hum. Mol. Genet., 9, 93-100.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 93-100
-
-
Balakumaran, B.S.1
Freudenreich, C.H.2
Zakian, V.A.3
-
27
-
-
0037462828
-
Hairpin formation in Friedreich's ataxia triplet repeat expansion
-
Heidenfelder,B.L., Makhov,A.M. and Topal,M.D. (2003) Hairpin formation in Friedreich's ataxia triplet repeat expansion. J. Biol. Chem., 278, 2425-2431.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 2425-2431
-
-
Heidenfelder, B.L.1
Makhov, A.M.2
Topal, M.D.3
-
28
-
-
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
-
29
-
-
0032012128
-
GAA instability in Friedreich's ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases
-
Gacy,A.M., Goellner,G.M., Spiro,C., Chen,X., Gupta,G., Bradbury,E.M., Dyer,R.B., Mikesell,M.J., Yao,J.Z., Johnson,A.J. et al. (1998) GAA instability in Friedreich's ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases. Mol. Cell, 1, 583-593.
-
(1998)
Mol. Cell
, vol.1
, pp. 583-593
-
-
Gacy, A.M.1
Goellner, G.M.2
Spiro, C.3
Chen, X.4
Gupta, G.5
Bradbury, E.M.6
Dyer, R.B.7
Mikesell, M.J.8
Yao, J.Z.9
Johnson, A.J.10
-
30
-
-
0033120042
-
Sticky DNA: Self-association properties of long GAA•TTC repeats in R•R•Y triplex structures from Friedreich's ataxia
-
Sakamoto,N., Chastain,P.D., Parniewski,P., Ohshima,K., Pandolfo,M., Griffith,J.D. and Wells,R.D. (1999) Sticky DNA: self-association properties of long GAA•TTC repeats in R• R•Y triplex structures from Friedreich's ataxia. Mol. Cell., 3, 465-475.
-
(1999)
Mol. Cell.
, vol.3
, pp. 465-475
-
-
Sakamoto, N.1
Chastain, P.D.2
Parniewski, P.3
Ohshima, K.4
Pandolfo, M.5
Griffith, J.D.6
Wells, R.D.7
-
31
-
-
0033525103
-
The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia
-
Mariappan,S.V.S., Catasti,P., Silks,L.A.,III, Bradbury,E.M. and Gupta,G. (1999) The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia. J. Mol. Biol., 285, 2035-2052.
-
(1999)
J. Mol. Biol.
, vol.285
, pp. 2035-2052
-
-
Mariappan, S.V.S.1
Catasti, P.2
Silks III, L.A.3
Bradbury, E.M.4
Gupta, G.5
-
32
-
-
2342627878
-
n repeats
-
n repeats. Nucleic Acids Res., 32, 1224-1231.
-
(2004)
Nucleic Acids Res.
, vol.32
, pp. 1224-1231
-
-
Potaman, V.N.1
Oussatcheva, E.A.2
Lyubchenko, Y.L.3
Shlyakhtenko, L.S.4
Bidichandani, S.I.5
Ashizawa, T.6
Sinden, R.R.7
-
33
-
-
0034672110
-
Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats
-
Grabczyk,E. and Usdin,K. (2000) Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats. Nucleic Acids Res., 28, 4930-4937.
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 4930-4937
-
-
Grabczyk, E.1
Usdin, K.2
-
34
-
-
0026772415
-
Binding properties of replication protein A from human and yeast cells
-
Kim,C., Snyder,R.O. and Wold,M.S. (1992) Binding properties of replication protein A from human and yeast cells. Mol. Cell. Biol. 12, 3050-3059.
-
(1992)
Mol. Cell. Biol.
, vol.12
, pp. 3050-3059
-
-
Kim, C.1
Snyder, R.O.2
Wold, M.S.3
-
35
-
-
0033579912
-
Structural properties of Friedreich's ataxia d(GAA) repeats
-
Suen,I., Rhodes,J.N., Christy,M., McEwen,B., Gray,D.M. and Mitas,M. (1999) Structural properties of Friedreich's ataxia d(GAA) repeats. Biochim. Biophys. Acta, 1444, 14-24.
-
(1999)
Biochim. Biophys. Acta
, vol.1444
, pp. 14-24
-
-
Suen, I.1
Rhodes, J.N.2
Christy, M.3
McEwen, B.4
Gray, D.M.5
Mitas, M.6
-
36
-
-
0034612992
-
Unexpected formation of parallel duplex in GAA and TTC trinucleotide repeats of Friedreich's ataxia
-
LeProust,E.M., Pearson,C.E., Sinden,R.R. and Gao,X. (2000) Unexpected formation of parallel duplex in GAA and TTC trinucleotide repeats of Friedreich's ataxia. J. Mol. Biol., 302, 1063-1080.
-
(2000)
J. Mol. Biol.
, vol.302
, pp. 1063-1080
-
-
LeProust, E.M.1
Pearson, C.E.2
Sinden, R.R.3
Gao, X.4
-
38
-
-
0025073066
-
Identification of an origin of bidirectional DNA replication in mammalian chromosomes
-
Burhans,W.C., Vassilev,L.T., Caddle,M.S., Heintz,N.H. and DePamphilis,M.L. (1990) Identification of an origin of bidirectional DNA replication in mammalian chromosomes. Cell, 62, 955-965.
-
(1990)
Cell
, vol.62
, pp. 955-965
-
-
Burhans, W.C.1
Vassilev, L.T.2
Caddle, M.S.3
Heintz, N.H.4
DePamphilis, M.L.5
-
39
-
-
0018801577
-
Metabolism of Okazaki fragments during simian virus 40 DNA replication
-
Anderson,S. and DePamphilis,M.L. (1979) Metabolism of Okazaki fragments during simian virus 40 DNA replication. J. Biol. Chem., 254, 11495-11504.
-
(1979)
J. Biol. Chem.
, vol.254
, pp. 11495-11504
-
-
Anderson, S.1
DePamphilis, M.L.2
-
40
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
Filla,A., De Michele,G., Cavalcanti,F., Pianese,L., Monticelli,A., Campanella,G. and Cocozza,S. (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am. J. Hum. Genet., 59, 554-560.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
Pianese, L.4
Monticelli, A.5
Campanella, G.6
Cocozza, S.7
-
41
-
-
0037157227
-
Instability of repeated DNAs during transformation in Escherichia coli
-
Hashem,V.I., Klysik,E.A., Rosche,W.A. and Sinden,R.R. (2002) Instability of repeated DNAs during transformation in Escherichia coli. Mutat. Res., 502, 39-46.
-
(2002)
Mutat. Res.
, vol.502
, pp. 39-46
-
-
Hashem, V.I.1
Klysik, E.A.2
Rosche, W.A.3
Sinden, R.R.4
-
42
-
-
4544376726
-
Analysis of unstable triplet repeats using small pool polymerase chain reaction
-
Kohwi,Y. (ed.), Humana Press, Totowa, NJ, USA
-
Gomes-Pereira,M., Bidichandani,S.I. and Monckton,D.G. (2004) Analysis of unstable triplet repeats using small pool polymerase chain reaction. In Kohwi,Y. (ed.), Methods in Molecular Biology, Humana Press, Totowa, NJ, USA, Vol. 227, pp. 61-76.
-
(2004)
Methods in Molecular Biology
, vol.227
, pp. 61-76
-
-
Gomes-Pereira, M.1
Bidichandani, S.I.2
Monckton, D.G.3
-
43
-
-
0028364565
-
Complex gene conversion events in germline, mutation at human minisatellites
-
Jeffreys,A.J., Tamaki,K., Mac Leon,A., Monckton,D.G., Neil,D.L. and Armour,J.A.L. (1994) Complex gene conversion events in germline, mutation at human minisatellites. Nature Genet., 6, 136-145.
-
(1994)
Nature Genet.
, vol.6
, pp. 136-145
-
-
Jeffreys, A.J.1
Tamaki, K.2
Mac Leon, A.3
Monckton, D.G.4
Neil, D.L.5
Armour, J.A.L.6
-
44
-
-
0035920106
-
GGA•TCC-interrupted triplets in long GAA•TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities
-
Sakamoto,N., Larsson,J.E., Iyer,R.R., Montermini,L., Pandolfo,M. and Wells,R.D. (2001) GGA•TCC-interrupted triplets in long GAA•TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities. J. Biol. Chem., 276, 27178-27187.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 27178-27187
-
-
Sakamoto, N.1
Larsson, J.E.2
Iyer, R.R.3
Montermini, L.4
Pandolfo, M.5
Wells, R.D.6
-
45
-
-
0028873248
-
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
-
Monckton,D.G., Wong,L.C., Ashizawa,T. and Caskey,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.C.2
Ashizawa, T.3
Caskey, T.4
-
47
-
-
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 Munain,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 Munain, A.6
Baiget, M.7
-
48
-
-
0034639711
-
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
-
Fortune,M.T., Vassilopoulos,C., Coolbaugh,M.I., Siciliano,M.J. and Monckton,D.G. (2000) Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum. Mol. Genet., 9, 439-445.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 439-445
-
-
Fortune, M.T.1
Vassilopoulos, C.2
Coolbaugh, M.I.3
Siciliano, M.J.4
Monckton, D.G.5
-
49
-
-
0035311021
-
Mouse tissue culture models of unstable triplet repeats: In vitro selection for larger alleles, mutational expansion bias and tissue specific, but no association with cell division rates
-
Gomes-Pereira,M., Fortune,M.T. and Monckton,D.G. (2001) Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specific, but no association with cell division rates. Hum. Mol. Genet., 10, 845-854.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 845-854
-
-
Gomes-Pereira, M.1
Fortune, M.T.2
Monckton, D.G.3
-
50
-
-
0035852858
-
Frequency and stability of the myotonic dystrophy type 1 premutation
-
Martorell,L., Monckton,D.G., Sanchez,A., Lopez de Munain,A. and Baiget,M. (2001) Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology., 56, 328-335.
-
(2001)
Neurology
, vol.56
, pp. 328-335
-
-
Martorell, L.1
Monckton, D.G.2
Sanchez, A.3
Lopez de Munain, A.4
Baiget, M.5
-
51
-
-
0033525081
-
Expansion and deletion of triplet repeat sequences in Escherichia coli on the leading strand of DNA replication
-
Iyer,R.R. and Wells,R.D. (1999) Expansion and deletion of triplet repeat sequences in Escherichia coli on the leading strand of DNA replication. J. Biol. Chem., 274, 3865-3877.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 3865-3877
-
-
Iyer, R.R.1
Wells, R.D.2
-
52
-
-
0029897408
-
Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range
-
Mornet,E., Chateau,C., Hirst,M.C., Thepot,F., Taillandier,A., Cibois,O. and Serre,J.L. (1996) Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range. Hum. Mol. Genet., 5, 821-825.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 821-825
-
-
Mornet, E.1
Chateau, C.2
Hirst, M.C.3
Thepot, F.4
Taillandier, A.5
Cibois, O.6
Serre, J.L.7
-
53
-
-
1242293782
-
Expansion of GAA triplet repeats in the human genome: Unique origin of the FRDA mutation at the center of an Alu
-
Clark,R.M., Dalgliesh,G.L., Endres,D., Gómez,M., Taylor,J. and Bidichandani,S.I. (2004) Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu. Genomics, 83, 373-383.
-
(2004)
Genomics
, vol.83
, pp. 373-383
-
-
Clark, R.M.1
Dalgliesh, G.L.2
Endres, D.3
Gómez, M.4
Taylor, J.5
Bidichandani, S.I.6
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