-
1
-
-
12244266688
-
Ancestralgerences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: Insights into the genetic evolution of Huntington disease
-
ALMQVIST, E., SPENCE, N., NICHOL, K., ANDREW, S. E., VESA, J., PELTONEN, L., ANVRET, M., GOTO, J., KANAZAWA, I., GOLDBERG, Y. P. & HAYDEN, M. R. (1995). Ancestralgerences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum. Mol. Genet. 4, 207-214.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 207-214
-
-
Almqvist, E.1
Spence, N.2
Nichol, K.3
Andrew, S.E.4
Vesa, J.5
Peltonen, L.6
Anvret, M.7
Goto, J.8
Kanazawa, I.9
Goldberg, Y.P.10
Hayden, M.R.11
-
2
-
-
0030017038
-
Microsatellites show mutational bias and heterozygote instability
-
AMOS, W., SAWCER, S. J., FEAKES, R. W. & RUBINSZTEIN, D. A. (1996). Microsatellites show mutational bias and heterozygote instability. Nat. Genet. 13, 390-391.
-
(1996)
Nat. Genet.
, vol.13
, pp. 390-391
-
-
Amos, W.1
Sawcer, S.J.2
Feakes, R.W.3
Rubinsztein, D.A.4
-
3
-
-
0026087208
-
Drift, admixture, and selection in human evolution: A study with DNA polymorphisms
-
BOWCOCK, A. M., KIDD, J. R., MOUNTAIN, J. L., HEBERT, J. M., CAROTENUTO, L., KIDD, K. K. & CAVALLI-SFORZA L. L. (1991). Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. Proc. Natl. Acad. Sci. USA 88, 839-843.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 839-843
-
-
Bowcock, A.M.1
Kidd, J.R.2
Mountain, J.L.3
Hebert, J.M.4
Carotenuto, L.5
Kidd, K.K.6
Cavalli-Sforza, L.L.7
-
4
-
-
0028184174
-
High resolution of human evolutionary trees with polymorphic microsatellites
-
BOWCOCK, A. M., RUIZ-LINARES, A., TOMFOHRDE, J., MINCH, E., KIDD, J. R., CAVALLI-SFORZA L. L. (1994). High resolution of human evolutionary trees with polymorphic microsatellites. Nature 368, 455-457.
-
(1994)
Nature
, vol.368
, pp. 455-457
-
-
Bowcock, A.M.1
Ruiz-Linares, A.2
Tomfohrde, J.3
Minch, E.4
Kidd, J.R.5
Cavalli-Sforza, L.L.6
-
5
-
-
0029035710
-
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
-
CHONG, S. S., MCCALL, A. E., COTA, J., SUBRAMONY, S. H., ORR, H. T., HUGHES, M. R. & ZOGHBI H. Y. (1995). Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 10, 344-350.
-
(1995)
Nature Genet.
, vol.10
, pp. 344-350
-
-
Chong, S.S.1
Mccall, A.E.2
Cota, J.3
Subramony, S.H.4
Orr, H.T.5
Hughes, M.R.6
Zoghbi, H.Y.7
-
6
-
-
0029587038
-
Recurrent simple tandem repeat mutations during human Y chromosome radiation in Caucasian subpopulations
-
CIMINELLI, B. M., POMPEI, F., MALASPINA, P., HAMMER, M., PERSICHETTI, F., PIGNATTI, P. F., PALENA, A., ANAGNOU, N., GUANTI, G., JODICE, C., TERRENATO, L. & NOVELLETTO A. (1995). Recurrent simple tandem repeat mutations during human Y chromosome radiation in Caucasian subpopulations. J. Mol. Evol. 41, 966-973.
-
(1995)
J. Mol. Evol.
, vol.41
, pp. 966-973
-
-
Ciminelli, B.M.1
Pompei, F.2
Malaspina, P.3
Hammer, M.4
Persichetti, F.5
Pignatti, P.F.6
Palena, A.7
Anagnou, N.8
Guanti, G.9
Jodice, C.10
Terrenato, L.11
Novelletto, A.12
-
7
-
-
0029844360
-
Network analysis of human Y microsatellite haplotypes
-
COOPER, G., AMOS, W., HOFFMAN, D. & RUBINSZTEIN D. C. (1996). Network analysis of human Y microsatellite haplotypes. Hum. Mol. Genet. 5, 1759-1766.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1759-1766
-
-
Cooper, G.1
Amos, W.2
Hoffman, D.3
Rubinsztein, D.C.4
-
8
-
-
0025280026
-
Centre d'etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome
-
DAUSSET, J., CANN, H., COHEN, D., LATHROP, M., LALOUEL, J.-M. & WHITE R. (1990). Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics 6, 575-577.
-
(1990)
Genomics
, vol.6
, pp. 575-577
-
-
Dausset, J.1
Cann, H.2
Cohen, D.3
Lathrop, M.4
Lalouel, J.-M.5
White, R.6
-
9
-
-
0028999121
-
Normal CAG repeat variation at the DRPLA locus in world population
-
DEKA, R., MIKI, T., YIN, S. J., MCGARVEY, S. T., SHRIVER, M. D., BUNKER, C. H., RASKIN, S., HUNDRIESER, J., FERRELL, R. E. & CHAKRABORTY R. (1995a). Normal CAG repeat variation at the DRPLA locus in world population. Am. J. Hum. Genet. 57, 508-511.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 508-511
-
-
Deka, R.1
Miki, T.2
Yin, S.J.3
Mcgarvey, S.T.4
Shriver, M.D.5
Bunker, C.H.6
Raskin, S.7
Hundrieser, J.8
Ferrell, R.E.9
Chakraborty, R.10
-
10
-
-
0028854328
-
Population genetics of dinucleotide (dC-dA)n.(dG-dT)n polymorphisms in world populations
-
DEKA, R., JIN, L., SHRIVER, M. D., YU, L. M., DECROO, S., HUNDRIESER, J., BUNKER, C. H. & CHAKRABORTY, R. (1995b). Population genetics of dinucleotide (dC-dA)n.(dG-dT)n polymorphisms in world populations. Am. J. Hum. Genet. 56, 461-474.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 461-474
-
-
Deka, R.1
Jin, L.2
Shriver, M.D.3
Yu, L.M.4
Decroo, S.5
Hundrieser, J.6
Bunker, C.H.7
Chakraborty, R.8
-
11
-
-
0028325745
-
Mutational processes of simple sequence repeat loci in human population
-
DI RIENZO, A., PETERSON, A. C., GARZA, J. C., VALDES, A. M., SLATKIN, M. & FREIMER N. B. (1994). Mutational processes of simple sequence repeat loci in human population. Proc. Natl. Acad. Sci. USA 91, 3166-3170.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 3166-3170
-
-
Di Rienzo, A.1
Peterson, A.C.2
Garza, J.C.3
Valdes, A.M.4
Slatkin, M.5
Freimer, N.B.6
-
12
-
-
0026681074
-
Analysis of molecular variance inferred from metric distances among DNA haplotypes: Application to human mitochondrial DNA restriction data
-
EXCOFFIER, L., SMOUSE, P. E. & QUATTRO, J. M. (1992). Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 131, 479-491.
-
(1992)
Genetics
, vol.131
, pp. 479-491
-
-
Excoffier, L.1
Smouse, P.E.2
Quattro, J.M.3
-
13
-
-
10544248589
-
Genetic fitness in Huntington disease and spinocerebellar ataxia 1: A population genetics model for CAG repeat expansions
-
FRONTALI, M., SABBADINI, G., NOVELLETTO, A., JODICE, C., NASO, F., SPADARO, M., GIUNTI, P., JACOPINI, A. G., VENEZIANO, L., MANTUANO, E., MALASPINA, P., ULIZZI, L., BRICE, A., DURR, A. & TERRENATO, L. (1996). Genetic fitness in Huntington disease and spinocerebellar ataxia 1: a population genetics model for CAG repeat expansions. Ann. Hum. Genet. 60, 423-435.
-
(1996)
Ann. Hum. Genet.
, vol.60
, pp. 423-435
-
-
Frontali, M.1
Sabbadini, G.2
Novelletto, A.3
Jodice, C.4
Naso, F.5
Spadaro, M.6
Giunti, P.7
Jacopini, A.G.8
Veneziano, L.9
Mantuano, E.10
Malaspina, P.11
Ulizzi, L.12
Brice, A.13
Durr, A.14
Terrenato, L.15
-
14
-
-
0027359989
-
Molecular analysis of new mutations causing Huntington disease: Intermediate alleles and sex of origin effects
-
GOLDBERG, Y. P., ANDREW, S. E., THEILMANN, J., KREMER, B., SQUITIERI, F. S., TELENIUS, H., BROWN, J. D. & HAYDEN M. R. (1993) Molecular analysis of new mutations causing Huntington disease: intermediate alleles and sex of origin effects. Nature Genet. 5, 174-179.
-
(1993)
Nature Genet.
, vol.5
, pp. 174-179
-
-
Goldberg, Y.P.1
Andrew, S.E.2
Theilmann, J.3
Kremer, B.4
Squitieri, F.S.5
Telenius, H.6
Brown, J.D.7
Hayden, M.R.8
-
15
-
-
2442761245
-
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affecetd by the genotype of the normal chromosome: Implications for the molecular mechanism of the instability of the CAG repeat
-
IGARASHI, S., TAKIYAMA, Y., CANCEL, G., ROGAEVA, E. A., SASAKI, H., WAKISAKA, A., ZHOU, Y. X., TAKANO, H., ENDO, K., SANPEI, K., OYAKE, M., TANAKA, H., STEVANIN, G., ABBAS, N., DURR, A., ROGAEV, E. I., SHERRINGTON, R., TSUDA, T., IKED, M., CASSA, E., NISHIZAWA, M., BENOMAR, A., JULIEN, J., WEISSENBACH, J., WANG, G. X., AGID, Y., ST. GEORGE-HYSLOP, P. H., BRICE, A. & TSUJI S. (1996). Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affecetd by the genotype of the normal chromosome: implications for the molecular mechanism of the instability of the CAG repeat. Hum. Mol. Genet. 5, 923-932.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 923-932
-
-
Igarashi, S.1
Takiyama, Y.2
Cancel, G.3
Rogaeva, E.A.4
Sasaki, H.5
Wakisaka, A.6
Zhou, Y.X.7
Takano, H.8
Endo, K.9
Sanpei, K.10
Oyake, M.11
Tanaka, H.12
Stevanin, G.13
Abbas, N.14
Durr, A.15
Rogaev, E.I.16
Sherrington, R.17
Tsuda, T.18
Iked, M.19
Cassa, E.20
Nishizawa, M.21
Benomar, A.22
Julien, J.23
Weissenbach, J.24
Wang, G.X.25
Agid, Y.26
St. George-Hyslop, P.H.27
Brice, A.28
Tsuji, S.29
more..
-
16
-
-
0027251874
-
Origin of the expansion mutation in myotonic dystrophy
-
IMBERT, G., KRETZ, C., JOHNSON, K. & MANDEL, J. L. (1993). Origin of the expansion mutation in myotonic dystrophy. Nature Genet. 4, 72-76.
-
(1993)
Nature Genet.
, vol.4
, pp. 72-76
-
-
Imbert, G.1
Kretz, C.2
Johnson, K.3
Mandel, J.L.4
-
17
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
IMBERT, G., SAUDOU, F., YVERT, G., DEVYS, D., TROTTIER, Y., GARNIER, J-M., WEBER, C., MANDEL, J-L., CANCEL, G., ABBAS, N., DÜRR, A., DIDIERJEAN, O., STEVANIN, G., AGID, Y. & BRICE, A. (1996). Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. 14, 285-291.
-
(1996)
Nature Genet.
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.-M.6
Weber, C.7
Mandel, J.-L.8
Cancel, G.9
Abbas, N.10
Dürr, A.11
Didierjean, O.12
Stevanin, G.13
Agid, Y.14
Brice, A.15
-
18
-
-
0028229119
-
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I
-
JODICE, C., MALASPINA, P., PERSICHETTI, F., NOVELLETTO, A., SPADARO, M., GIUNTI, P., MOROCUTTI, C., TERRENATO, L., HARDING, A. E. & FRONTALI M. (1994). Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. Am. J. Hum. Genet. 54, 959-965.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 959-965
-
-
Jodice, C.1
Malaspina, P.2
Persichetti, F.3
Novelletto, A.4
Spadaro, M.5
Giunti, P.6
Morocutti, C.7
Terrenato, L.8
Harding, A.E.9
Frontali, M.10
-
19
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32·1
-
KAWAGUCHI, Y., OKAMOTO, T., TANIWAKI, M., AIZAWA, M., INOUE, M., KATAYAMA, S., KAWAKAMI, H., NAKAMURA, S., NISHIMURA, M., AKIGUCHI, I., KIMURA, J., NARUMIYA, S. & KAKIZUKA A (1994). CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32·1. Nature Genet. 8, 221-228.
-
(1994)
Nature Genet.
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
Kimura, J.11
Narumiya, S.12
Kakizuka, A.13
-
20
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
KOIDE, R., IKEUCHI, T., ONODERA, O., TANAKA, H., IGARASHI, S., ENDO, K., TAKAHASHI, H., KONDO, R., ISHIKAWA, A., HAYASHI, T., SAITO, M., TOMODA, A., MIIKE, T., NAITO, H., IKUTA, F. & TSUJI, S. (1994). Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13.
-
(1994)
Nature Genet.
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
Saito, M.11
Tomoda, A.12
Miike, T.13
Naito, H.14
Ikuta, F.15
Tsuji, S.16
-
21
-
-
0028080406
-
Trinucleotide repeat expansion in neurological disease
-
LA SPADA, A. R., PAULSON, H. L. & FISCHEBECK K. H. (1994). Trinucleotide repeat expansion in neurological disease. Ann. Neurol. 36, 814-822.
-
(1994)
Ann. Neurol.
, vol.36
, pp. 814-822
-
-
La Spada, A.R.1
Paulson, H.L.2
Fischebeck, K.H.3
-
22
-
-
0002907949
-
The interaction of selection and linkage. I. General considerations; heterotic models
-
LEWONTIN, R. C. (1964). The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 49, 49-67.
-
(1964)
Genetics
, vol.49
, pp. 49-67
-
-
Lewontin, R.C.1
-
23
-
-
0027297703
-
Novel triplet repeat containing in human brain: Cloning, expression, and lenght polymorphisms
-
LI, S. H., MCINNIS, M. G., MARGOLIS, R. L., ANTONARAKIS, S. E. & ROSS C. A. (1993). Novel triplet repeat containing in human brain: cloning, expression, and lenght polymorphisms. Genomics 16, 572-579.
-
(1993)
Genomics
, vol.16
, pp. 572-579
-
-
Li, S.H.1
Mcinnis, M.G.2
Margolis, R.L.3
Antonarakis, S.E.4
Ross, C.A.5
-
24
-
-
0022686865
-
The allelic correlation structure of Gainj- and Kalam-speaking people. I. The estimation and interpretation of Wright's F statistics
-
LONG, J. C. (1986). The allelic correlation structure of Gainj- and Kalam-speaking people. I. The estimation and interpretation of Wright's F statistics. Genetics 112, 629-647.
-
(1986)
Genetics
, vol.112
, pp. 629-647
-
-
Long, J.C.1
-
25
-
-
0025223207
-
The human Y chromosome shows a reduced level of DNA polymorphism
-
MALASPINA, P., PERSICHETTI, F., NOVELLETTO, A., IODICE, C., TERRENATO, L., WOLFE, J., FERRARO, M. & PRANTERA G. (1990). The human Y chromosome shows a reduced level of DNA polymorphism. Ann. Hum. Genet. 54, 297-305
-
(1990)
Ann. Hum. Genet.
, vol.54
, pp. 297-305
-
-
Malaspina, P.1
Persichetti, F.2
Novelletto, A.3
Iodice, C.4
Terrenato, L.5
Wolfe, J.6
Ferraro, M.7
Prantera, G.8
-
26
-
-
0026016644
-
Protection against malaria morbidity: Near-fixation of the α- Thalassemia gene in a Nepalese population
-
MODIANO, G., MORPURGO, G., TERRENATO, L., NOVELLETTO, A., DI RIENZO, A., COLOMBO, B., PURPURA, M., MARIANI, M., SANTACHIARA-BENERECETTI, S., BREGA, A., DIXIT, K. A., SHERESTHA, S. L., LANIA, A., WANACHIWANAWIN, W. & LUZZATTO L. (1991). Protection against malaria morbidity: near-fixation of the α-thalassemia gene in a Nepalese population. Am. J. Hum. Genet. 48, 390-397.
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 390-397
-
-
Modiano, G.1
Morpurgo, G.2
Terrenato, L.3
Novelletto, A.4
Di Rienzo, A.5
Colombo, B.6
Purpura, M.7
Mariani, M.8
Santachiara-Benerecetti, S.9
Brega, A.10
Dixit, K.A.11
Sherestha, S.L.12
Lania, A.13
Wanachiwanawin, W.14
Luzzatto, L.15
-
27
-
-
0028087883
-
Minisatellite mutation rate variation associated with a flanking DNA polymorphism
-
MONCKTON, D. G., NEUMANN, R., GURAM, T., FRETWELL, N., TAMAKI, K., MACLEOD, A. & JEFFREYS, A. J. (1994). Minisatellite mutation rate variation associated with a flanking DNA polymorphism. Nature Genet. 8, 162-170.
-
(1994)
Nature Genet.
, vol.8
, pp. 162-170
-
-
Monckton, D.G.1
Neumann, R.2
Guram, T.3
Fretwell, N.4
Tamaki, K.5
Macleod, A.6
Jeffreys, A.J.7
-
28
-
-
0027435939
-
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
-
MYERS, R. H., MACDONALD, M. E., KOROSHETZ, W. J., DUYAO, M. P., AMBROSE, C. M., TAYLOR, S. A. M., BARNES, G., SRINIDHI, J., LIN, C. S., WHALEY, W. L., LAZZARINI, A. M., SCHWARZ, M., WOLFF, G., BIRD, E. D., VONSATTEL, J-P. & GUSELLA, J. F. (1993). De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nature Genet. 5, 168-173.
-
(1993)
Nature Genet.
, vol.5
, pp. 168-173
-
-
Myers, R.H.1
Macdonald, M.E.2
Koroshetz, W.J.3
Duyao, M.P.4
Ambrose, C.M.5
Taylor, S.A.M.6
Barnes, G.7
Srinidhi, J.8
Lin, C.S.9
Whaley, W.L.10
Lazzarini, A.M.11
Schwarz, M.12
Wolff, G.13
Bird, E.D.14
Vonsattel, J.-P.15
Gusella, J.F.16
-
29
-
-
0028332346
-
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease
-
NOVELLETTO, A., PERSICHETTI, F., SABBADINI, G., MANDICH, P., BELLONE, E., AJMAR, F., SQUITIERI, F., CAMPANELLA, G., BOZZA, A., MACDONALD, M. E., GUSELLA, J. F. & FRONTALI M. (1994). Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. Hum. Mol. Genet. 3, 1129-1132.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1129-1132
-
-
Novelletto, A.1
Persichetti, F.2
Sabbadini, G.3
Mandich, P.4
Bellone, E.5
Ajmar, F.6
Squitieri, F.7
Campanella, G.8
Bozza, A.9
Macdonald, M.E.10
Gusella, J.F.11
Frontali, M.12
-
30
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
ORR, H. T., CHUNG, M., BANFI, S., KWIATKOWSKI, T. J. JR, SERVADIO, A., BEAUDET, A., MCCALL, A. E., DUVICK, L. A., RANUM, L. P. W. & ZOGHBI, H. Y. (1993). Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226.
-
(1993)
Nature Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.2
Banfi, S.3
Kwiatkowski T.J., Jr.4
Servadio, A.5
Beaudet, A.6
Mccall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
31
-
-
0030035824
-
Directional evolution in germline microsatellite mutations
-
PRIMMER, C. R., ELLEGREN, H., SAINO, N. & PAPE MØLLER, A. (1996). Directional evolution in germline microsatellite mutations. Nature Genet. 13, 391-392.
-
(1996)
Nature Genet.
, vol.13
, pp. 391-392
-
-
Primmer, C.R.1
Ellegren, H.2
Saino, N.3
Pape Møller, A.4
-
32
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
PULST, S-M., NECHIPORUK, A., NECHIPORUK, D., GISPERT, S., CHEN, X-N., LOPES-CENDES, I., PEARLMAN, S., STARKMAN, S., OROZCO-DIAZ, G., LUNKES, A., DEJONG, P., ROULEAU, G. A., AUBURGER, G., KORENBERG, J. R., FIGUEROA, C. & SAHBA, S. (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 14, 269-276.
-
(1996)
Nature Genet.
, vol.14
, pp. 269-276
-
-
Pulst, S.-M.1
Nechiporuk, A.2
Nechiporuk, D.3
Gispert, S.4
Chen, X.-N.5
Lopes-Cendes, I.6
Pearlman, S.7
Starkman, S.8
Orozco-Diaz, G.9
Lunkes, A.10
Dejong, P.11
Rouleau, G.A.12
Auburger, G.13
Korenberg, J.R.14
Figueroa, C.15
Sahba, S.16
-
33
-
-
10544236904
-
Dynamic mutation loci: Allele distributions ingerent populations
-
RICHARDS, R. I., CRAWFORD, J., NARAHARA, K., MANGELSDORF, M., FRIEND, K., STAPLES, A., DENTON, M., EASTEAL, S., HORI, T. A., KONDO, I., JENKINS, T., GOLDMAN, A., PANICH, V., FERAKOVA, E. & SUTHERLAND, G. R. (1996). Dynamic mutation loci: allele distributions ingerent populations. Ann. Hum Genet. 60, 391-400.
-
(1996)
Ann. Hum Genet.
, vol.60
, pp. 391-400
-
-
Richards, R.I.1
Crawford, J.2
Narahara, K.3
Mangelsdorf, M.4
Friend, K.5
Staples, A.6
Denton, M.7
Easteal, S.8
Hori, T.A.9
Kondo, I.10
Jenkins, T.11
Goldman, A.12
Panich, V.13
Ferakova, E.14
Sutherland, G.R.15
-
34
-
-
0027519511
-
Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number
-
RUBINSZTEIN, D. C., BARTON, D. E., DAVISON, B. C. C. & FERGUSON-SMITH M. A. (1993). Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number. Hum. Mol. Genet. 2, 1713-1715.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1713-1715
-
-
Rubinsztein, D.C.1
Barton, D.E.2
Davison, B.C.C.3
Ferguson-Smith, M.A.4
-
35
-
-
0027982426
-
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence
-
RUBINSZTEIN, D. C., AMOS, W., LEGGO, J., GOODBURN, S., RAMESAR, R. S., OLD, J., BONTROP, R., MCMAHON, R., BARTON, D. E. & FERGUSON-SMITH, M. A. (1994). Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nature Genet. 7, 525-530.
-
(1994)
Nature Genet.
, vol.7
, pp. 525-530
-
-
Rubinsztein, D.C.1
Amos, W.2
Leggo, J.3
Goodburn, S.4
Ramesar, R.S.5
Old, J.6
Bontrop, R.7
Mcmahon, R.8
Barton, D.E.9
Ferguson-Smith, M.A.10
-
36
-
-
0028986598
-
Haplotype analysis of the Δ2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype
-
RUBINSZTEIN, D. C., LEGGO, J., GOODBURN, S., BARTON, D. E. & FERGUSON-SMITH, M. A. (1995a). Haplotype analysis of the Δ2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype. Hum. Mol. Genet. 4, 203-206.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 203-206
-
-
Rubinsztein, D.C.1
Leggo, J.2
Goodburn, S.3
Barton, D.E.4
Ferguson-Smith, M.A.5
-
37
-
-
0029073687
-
Microsatellite evolution evidence for directionality and variation in rate between species
-
RUBINSZTEIN, D. C., AMOS, W., LEGGO, J., GOODBURN, S., JAIN, S., LI, S. H., MARGOLIS, R. L., ROSS, C. A. & FERGUSON-SMITH, M. A. (1995b). Microsatellite evolution evidence for directionality and variation in rate between species Nature Genet. 10, 337-343.
-
(1995)
Nature Genet.
, vol.10
, pp. 337-343
-
-
Rubinsztein, D.C.1
Amos, W.2
Leggo, J.3
Goodburn, S.4
Jain, S.5
Li, S.H.6
Margolis, R.L.7
Ross, C.A.8
Ferguson-Smith, M.A.9
-
38
-
-
0029091770
-
Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes
-
RUBINSZTEIN, D. C., LEGGO, J., COETZEE, G. A., IRVINE, R. A., BUCKLEY, M., FERGUSON-SMITH, M. A. (1995c). Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes. Hum. Mol. Genet. 4, 1585-1590.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1585-1590
-
-
Rubinsztein, D.C.1
Leggo, J.2
Coetzee, G.A.3
Irvine, R.A.4
Buckley, M.5
Ferguson-Smith, M.A.6
-
39
-
-
0030292368
-
Identification off the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
SANPEI, K., TAKANO, H., IGARASHI, S., SATO, T., OYAKE, M., SASAKI, H., WAKISAKA, A., TASHIRO, K., ISHIDA, Y., IKEUCHI, T., KOIDE, R., SAITO, M., SATO, A., TANAKA, T., HANYU, S., TAKIYAMA, Y., NISHIZAWA, M., SHIMIZU, N., NOMURA, Y., SEGAWA, M., IWABUCHI, K., EGUCHI, I., TANAKA, H., TAKAHASHI, H. & TSUJI, S. (1996). Identification off the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 14, 277-284.
-
(1996)
Nature Genet.
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
Sato, T.4
Oyake, M.5
Sasaki, H.6
Wakisaka, A.7
Tashiro, K.8
Ishida, Y.9
Ikeuchi, T.10
Koide, R.11
Saito, M.12
Sato, A.13
Tanaka, T.14
Hanyu, S.15
Takiyama, Y.16
Nishizawa, M.17
Shimizu, N.18
Nomura, Y.19
Segawa, M.20
Iwabuchi, K.21
Eguchi, I.22
Tanaka, H.23
Takahashi, H.24
Tsuji, S.25
more..
-
40
-
-
0028988941
-
Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
-
SCHÖLS, L., MENEZES VIEIRA-SAECKER, A. M., SCHÖLS, S., PRZUNTEK, H., EPPLEN, J. T. & RIESS O. (1995). Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum. Mol. Genet. 4, 1001-1005.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1001-1005
-
-
Schöls, L.1
Menezes Vieira-Saecker, A.M.2
Schöls, S.3
Przuntek, H.4
Epplen, J.T.5
Riess, O.6
-
41
-
-
0028564730
-
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
-
SQUITIERI, F., ANDREW, S. E., GOLDBERG, Y. P., KREMER, B., SPENCE, N., ZEISLER, J., NICHOLS, K., THEILMANN, J., GREENBERG, J., GOTO, J., KANAZAWA, I., VESA, J., PELTONEN, L., ALMQVIST, E., ANVRET, M., TELENIUS, H., LIN, B., NAPOLITANO, G., MORGAN, K. & HAYDEN, M. R. (1994). DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum. Mol. Genet. 3, 2103-2114.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2103-2114
-
-
Squitieri, F.1
Andrew, S.E.2
Goldberg, Y.P.3
Kremer, B.4
Spence, N.5
Zeisler, J.6
Nichols, K.7
Theilmann, J.8
Greenberg, J.9
Goto, J.10
Kanazawa, I.11
Vesa, J.12
Peltonen, L.13
Almqvist, E.14
Anvret, M.15
Telenius, H.16
Lin, B.17
Napolitano, G.18
Morgan, K.19
Hayden, M.R.20
more..
-
42
-
-
0029051470
-
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells
-
TALBOT, C. C., AVRAMOPOULOS D., GERKEN, S., CHAKRAVARTI A., ARMOUR, J. A., MATSUNAMI, N., WHITE, R. & ANTONARAKIS, S. E. (1995). The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells. Hum. Mol. Genet. 4, 1193-1199.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1193-1199
-
-
Talbot, C.C.1
Avramopoulos, D.2
Gerken, S.3
Chakravarti, A.4
Armour, J.A.5
Matsunami, N.6
White, R.7
Antonarakis, S.E.8
-
43
-
-
0028339385
-
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
-
TELENIUS, H., KREMER, B., GOLDBERG, Y. P., THEILMANN, J., ANDREW, S. E., ZEISLER, J., ADAM, S., GREENBERG, C., IVES, E. J., CLARKE, L. A. & HAYDEN, M. R. (1994). Somatic and gonadal 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, Y.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
-
44
-
-
0028986597
-
Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease
-
TELENIUS, H., ALMQVIST, E., KREMER, B., SPENCE, N., SQUITIERI, F., NICHOL, K., GRANDELL, U., STARR, E., BENJAMIN, C., CASTALDO, L. CALABRESE, I., ANVRET, M., GOLDBERG, Y. P. & HAYDEN, M. R. (1995). Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease. Hum. Mol. Genet. 4, 189-195.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 189-195
-
-
Telenius, H.1
Almqvist, E.2
Kremer, B.3
Spence, N.4
Squitieri, F.5
Nichol, K.6
Grandell, U.7
Starr, E.8
Benjamin, C.9
Castaldo, L.10
Calabrese, I.11
Anvret, M.12
Goldberg, Y.P.13
Hayden, M.R.14
-
45
-
-
0027474097
-
Allele frequencies al microsatellite loci: The stepwise mutation model revised
-
VALDES, A. M., SLATKIN, M., & FREIMER, N. B. (1993). Allele frequencies al microsatellite loci: the stepwise mutation model revised. Genetics 133, 737-749.
-
(1993)
Genetics
, vol.133
, pp. 737-749
-
-
Valdes, A.M.1
Slatkin, M.2
Freimer, N.B.3
-
46
-
-
0027275819
-
A new polymerase chain reaction assay for the trinucleotide repeat that is unstable and expanded in Huntington's disease
-
WARNER, J. P., BARRON, L. H. & BROCK, D. J. H. (1993). A new polymerase chain reaction assay for the trinucleotide repeat that is unstable and expanded in Huntington's disease. Molec. Cell Probes 7, 235-239.
-
(1993)
Molec. Cell Probes
, vol.7
, pp. 235-239
-
-
Warner, J.P.1
Barron, L.H.2
Brock, D.J.H.3
-
47
-
-
0029080261
-
Population genetics of trinucleotide repeat polymorphisms
-
WATKINS, W. S., BAMSHAD, M., JORDE, L. B. (1995). Population genetics of trinucleotide repeat polymorphisms. Hum. Mol. Genetic. 4, 1485-1491.
-
(1995)
Hum. Mol. Genetic.
, vol.4
, pp. 1485-1491
-
-
Watkins, W.S.1
Bamshad, M.2
Jorde, L.B.3
-
48
-
-
0027161022
-
Mutation of human short tandem repeats
-
WEBER, J. L. & WONG, C. (1993). Mutation of human short tandem repeats. Hum. Mol. Genet. 2, 1123-1128.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1123-1128
-
-
Weber, J.L.1
Wong, C.2
-
49
-
-
0000862605
-
The interpretation of population structure by F statistics with special regar to systems of mating
-
WRIGHT, S. (1965). The interpretation of population structure by F statistics with special regar to systems of mating. Evolution 19, 395-420.
-
(1965)
Evolution
, vol.19
, pp. 395-420
-
-
Wright, S.1
-
50
-
-
0030294445
-
The expanding world of ataxins
-
ZOGHBI, H. Y. (1996). The expanding world of ataxins. Nature Genet. 14, 237-238.
-
(1996)
Nature Genet.
, vol.14
, pp. 237-238
-
-
Zoghbi, H.Y.1
|