-
1
-
-
0026321407
-
Statistical methods for multipoint radiation hybrid mapping
-
Boehnke, M., Lange, K., and Cox, D. R. (1991). Statistical methods for multipoint radiation hybrid mapping. Am. J. Hum. Genet. 49: 1174-1188.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 1174-1188
-
-
Boehnke, M.1
Lange, K.2
Cox, D.R.3
-
2
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Cañizares, J., Koutnikova, H., Bidichandani, S. I., Gellera, C., Brice, A., Trouillas, P., De Michele, G., Filla, A., De Frutos, R., Palau, F., Patel, P. I., Di Donato, S., Mandel, J.-L., Cocozza, S., Koenig, M., and Pandolfo, M. (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
Moltò, M.D.3
Pianese, L.4
Cossée, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Cañizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
De Michele, G.18
Filla, A.19
De Frutos, R.20
Palau, F.21
Patel, P.I.22
Di Donato, S.23
Mandel, J.-L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
3
-
-
0029653653
-
A YAC contig map of the human genome
-
Chumakov, I., Rigault, P., Le Gall, I., Bellanné-Chantelot, C., Billault, A., Guillou, S., Soularue, P., Guasconi, G., Poullier, E., Gros, I., Belova, M., Sambucy, J.-L., Susini, L., Gervy, P., Glibert, F., Beaufils, S., Bui, H., Massart, C., De Tand, M.-F., Dukasz, F., Lecoulant, S., Ougen, P., Perrot, V., Saumier, M., Soravito, C., Bahouayila, R., Cohen-Akenine, A., Barillot, E., Bertrand, S., Codani, J.-J., Caterina, D., Georges, I., Lacroix, B., Lucotte, G., Sahbatou, M., Schmit, C., Sangouard, M., Tubacher, E., Dib, C., Fauré, S., Fizames, C., Gyapay, G., Millasseau, P., Nguyen, S., Muselet, D., Vignal, A., Morissette, J., Menninger, J., Lieman, J., Desai, T., Banks, A., Bray-Ward, P., Ward, D., Hudson, T., Gerety, S., Foote, S., Stein, L., Page, D. C., Lander, E. S., Weissenbach, J., Le Paslier, D., and Cohen, D. (1995). A YAC contig map of the human genome. Nature 377: 175-297.
-
(1995)
Nature
, vol.377
, pp. 175-297
-
-
Chumakov, I.1
Rigault, P.2
Le Gall, I.3
Bellanné-Chantelot, C.4
Billault, A.5
Guillou, S.6
Soularue, P.7
Guasconi, G.8
Poullier, E.9
Gros, I.10
Belova, M.11
Sambucy, J.-L.12
Susini, L.13
Gervy, P.14
Glibert, F.15
Beaufils, S.16
Bui, H.17
Massart, C.18
De Tand, M.-F.19
Dukasz, F.20
Lecoulant, S.21
Ougen, P.22
Perrot, V.23
Saumier, M.24
Soravito, C.25
Bahouayila, R.26
Cohen-Akenine, A.27
Barillot, E.28
Bertrand, S.29
Codani, J.-J.30
Caterina, D.31
Georges, I.32
Lacroix, B.33
Lucotte, G.34
Sahbatou, M.35
Schmit, C.36
Sangouard, M.37
Tubacher, E.38
Dib, C.39
Fauré, S.40
Fizames, C.41
Gyapay, G.42
Millasseau, P.43
Nguyen, S.44
Muselet, D.45
Vignal, A.46
Morissette, J.47
Menninger, J.48
Lieman, J.49
Desai, T.50
Banks, A.51
Bray-Ward, P.52
Ward, D.53
Hudson, T.54
Gerety, S.55
Foote, S.56
Stein, L.57
Page, D.C.58
Lander, E.S.59
Weissenbach, J.60
Le Paslier, D.61
Cohen, D.62
more..
-
4
-
-
0025131820
-
Radiation hybrid mapping: A somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes
-
Cox, D. R., Burmeister, M., Price, E. R., Kim, S., and Myers, R. M. (1990). Radiation hybrid mapping: A somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes. Science 250: 245-250.
-
(1990)
Science
, vol.250
, pp. 245-250
-
-
Cox, D.R.1
Burmeister, M.2
Price, E.R.3
Kim, S.4
Myers, R.M.5
-
5
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5264 microsatellites
-
Dib, C., Fauré, S., Fizames, C., Samson, D., Drouot, N., Vignal, A., Millasseau, P., Marc, S., Hazan, J., Seboun, E., Lathrop, M., Gyapay, G., Morissette, J., and Weissenbach, J. (1996). A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380.
-
(1996)
Nature
, vol.380
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
6
-
-
0001172320
-
Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred
-
Gardner, K., Alderson, K., Galster, B., Kaplan, D., Leppert, M., and Ptacek, L. (1994). Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred (Abstract). Neurology 44(Suppl. 2): A361.
-
(1994)
Neurology
, vol.44
, Issue.SUPPL. 2
-
-
Gardner, K.1
Alderson, K.2
Galster, B.3
Kaplan, D.4
Leppert, M.5
Ptacek, L.6
-
7
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
-
Gispert, S., Twells, R., Orozco, G., Brice, A., Weber, J., Heredero, L., Scheufler, K., Riley, B., Allotey, R., Nothers, C., Hillerman, R., Lunkes, A., Khati, C., Stevanin, G., Hernandez, A., Magariño, C., Klockgether, T., Durr, A., Chneiweiss, H., Enczmann, J., Farrall, M., Beckmann, J., Mullan, M., Wernet, P., Agid, Y., Freund, H-J., Williamson, R., Auburger, G., and Chamberlain, S. (1993). Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet. 4: 295-299.
-
(1993)
Nature Genet.
, vol.4
, pp. 295-299
-
-
Gispert, S.1
Twells, R.2
Orozco, G.3
Brice, A.4
Weber, J.5
Heredero, L.6
Scheufler, K.7
Riley, B.8
Allotey, R.9
Nothers, C.10
Hillerman, R.11
Lunkes, A.12
Khati, C.13
Stevanin, G.14
Hernandez, A.15
Magariño, C.16
Klockgether, T.17
Durr, A.18
Chneiweiss, H.19
Enczmann, J.20
Farrall, M.21
Beckmann, J.22
Mullan, M.23
Wernet, P.24
Agid, Y.25
Freund, H.-J.26
Williamson, R.27
Auburger, G.28
Chamberlain, S.29
more..
-
8
-
-
0025875226
-
Pax-3, a novel murine DNA binding protein expressed during early neurogenesis
-
Goulding, M. D., Chalepakis, G., Deutsch, U., Erselius, J. R., and Gruss, P. (1991). Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J. 10: 1135-1147.
-
(1991)
Embo J.
, vol.10
, pp. 1135-1147
-
-
Goulding, M.D.1
Chalepakis, G.2
Deutsch, U.3
Erselius, J.R.4
Gruss, P.5
-
9
-
-
0029122980
-
A 2.4-megabase physical map spanning the CYP2C gene cluster on chromosome 10q24
-
Gray, I., Nobile, C., Muresu, R., Ford, S., and Spurr, N. K. (1995). A 2.4-megabase physical map spanning the CYP2C gene cluster on chromosome 10q24. Genomics 28: 328-323.
-
(1995)
Genomics
, vol.28
, pp. 328-1323
-
-
Gray, I.1
Nobile, C.2
Muresu, R.3
Ford, S.4
Spurr, N.K.5
-
10
-
-
0020641096
-
Classification of hereditary ataxias and paraplegias
-
Harding, A. E. (1983). Classification of hereditary ataxias and paraplegias. Lancet 5: 1151-1155.
-
(1983)
Lancet
, vol.5
, pp. 1151-1155
-
-
Harding, A.E.1
-
11
-
-
0026949420
-
Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
-
Hästbacka, J., de la Chapelle, A., Kaitila, L, Sistonen, P., Weaver, A., and Lander, E. (1992). Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland. Nature Genet. 2: 204-211.
-
(1992)
Nature Genet.
, vol.2
, pp. 204-211
-
-
Hästbacka, J.1
De La Chapelle, A.2
Kaitila, L.3
Sistonen, P.4
Weaver, A.5
Lander, E.6
-
12
-
-
0028036668
-
High resolution mapping using fluorescence in situ hybridization to extended DNA fibers prepared from agarose-embedded cells
-
Heiskanen, M., Karhu, R., Hellsten, E., Peltonen, L., Kallioniemi, O. P., and Palotie, A. (1994). High resolution mapping using fluorescence in situ hybridization to extended DNA fibers prepared from agarose-embedded cells. Biotechniques 17: 928-929, 932-933.
-
(1994)
Biotechniques
, vol.17
, pp. 928-929
-
-
Heiskanen, M.1
Karhu, R.2
Hellsten, E.3
Peltonen, L.4
Kallioniemi, O.P.5
Palotie, A.6
-
13
-
-
0029838878
-
Visual mapping by high resolution FISH
-
Heiskanen, M., Peltonen, L., and Palotie, A. (1996). Visual mapping by high resolution FISH. Trends Genet. 12: 379-382.
-
(1996)
Trends Genet.
, vol.12
, pp. 379-382
-
-
Heiskanen, M.1
Peltonen, L.2
Palotie, A.3
-
14
-
-
0028318417
-
A new bacteriophage P1-derived vector for the propagation of large human DNA fragments
-
Ioannou, P. A., Amemiya, C. T., Garnes, J., Kroisel, P. M., Shizuya, H., Chen, C., Batzer, M. A., and de Jong, P. J. (1994). A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet. 6: 84-89.
-
(1994)
Nature Genet.
, vol.6
, pp. 84-89
-
-
Ioannou, P.A.1
Amemiya, C.T.2
Garnes, J.3
Kroisel, P.M.4
Shizuya, H.5
Chen, C.6
Batzer, M.A.7
De Jong, P.J.8
-
15
-
-
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., and Kakizuka, A. (1994). CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8: 221-227.
-
(1994)
Nature Genet.
, vol.8
, pp. 221-227
-
-
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
-
16
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian 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., and Tsuji, S. (1994). Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian 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
-
17
-
-
0028089305
-
Infantile onset spinocerebellar ataxia with sensory neuropathy - A new inherited disease
-
Koskinen, T., Santavuori, P., Sainio, K., Lappi, M., Kallio, A-K., and Pihko, H. (1994a). Infantile onset spinocerebellar ataxia with sensory neuropathy - a new inherited disease. J. Neurol. Sci. 121: 50-56.
-
(1994)
J. Neurol. Sci.
, vol.121
, pp. 50-56
-
-
Koskinen, T.1
Santavuori, P.2
Sainio, K.3
Lappi, M.4
Kallio, A.-K.5
Pihko, H.6
-
18
-
-
0028218559
-
Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)
-
Koskinen, T., Sainio, K., Rapola, J., Pihko, H., and Paetau, A. (1994b). Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). Muscle Nerve 17: 509-515.
-
(1994)
Muscle Nerve
, vol.17
, pp. 509-515
-
-
Koskinen, T.1
Sainio, K.2
Rapola, J.3
Pihko, H.4
Paetau, A.5
-
19
-
-
0026605766
-
A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single copy genes
-
Lemieux, N. M., Dutrillaux, B., and Viegas-Pequiqnot, E. (1992). A simple method for simultaneous R-or G-banding and fluorescence in situ hybridization of small single copy genes. Cytogenet. Cell Genet. 59: 311-312.
-
(1992)
Cytogenet. Cell Genet.
, vol.59
, pp. 311-312
-
-
Lemieux, N.M.1
Dutrillaux, B.2
Viegas-Pequiqnot, E.3
-
20
-
-
0028260641
-
The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans
-
de Morais, S. M. I., Wilkinson, G. R., Blaisdell, J., Nakamura, K., Meyer, U. A., and Goldstein, J. A. (1994). The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J. Biol. Chem. 269: 15419-15422.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 15419-15422
-
-
De Morais, S.M.I.1
Wilkinson, G.R.2
Blaisdell, J.3
Nakamura, K.4
Meyer, U.A.5
Goldstein, J.A.6
-
21
-
-
0023461268
-
Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction
-
Mullis, K. B., and Faloona, F. A. (1987). Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol. 155: 335-350.
-
(1987)
Methods Enzymol.
, vol.155
, pp. 335-350
-
-
Mullis, K.B.1
Faloona, F.A.2
-
22
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N., Tanaka, Y., Kikushima, H., Umino, K., Kurosawa, H., Furukawa, T., Nihei, K., Inoue, T., Sano, A., Komure, O., Takahashi, M., Yoshizawa, T., Kanazawa, I., and Yamada, M. (1994). Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6: 14-18.
-
(1994)
Nature Genet.
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
Takeda, T.7
Tadokoro, K.8
Kondo, I.9
Murayama, N.10
Tanaka, Y.11
Kikushima, H.12
Umino, K.13
Kurosawa, H.14
Furukawa, T.15
Nihei, K.16
Inoue, T.17
Sano, A.18
Komure, O.19
Takahashi, M.20
Yoshizawa, T.21
Kanazawa, I.22
Yamada, M.23
more..
-
23
-
-
0028071914
-
Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias
-
Nikali, K., Koskinen, T., Suomalainen, A., Pihko, H., and Peltonen, L. (1994). Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias. Pediatr. Res. 36: 607-612.
-
(1994)
Pediatr. Res.
, vol.36
, pp. 607-612
-
-
Nikali, K.1
Koskinen, T.2
Suomalainen, A.3
Pihko, H.4
Peltonen, L.5
-
24
-
-
0028949919
-
Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
-
Nikali, K., Suomalainen, A., Terwilliger, J., Koskinen, T., Weissenbach, J., and Peltonen, L. (1995). Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus. Am. J. Hum. Genet. 56: 1088-1095.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1088-1095
-
-
Nikali, K.1
Suomalainen, A.2
Terwilliger, J.3
Koskinen, T.4
Weissenbach, J.5
Peltonen, L.6
-
25
-
-
0027164698
-
Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1
-
Orr, H., Chung, M-y., Banfi, S., Kwiatkowski, T. J., Jr., Servadio, A., Beaudet A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., and 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.1
Chung, M.-Y.2
Banfi, S.3
Kwiatkowski, T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
26
-
-
0028876572
-
Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein
-
Ouahchi, K., Arita, M., Kayden, H., Hentati, F., Ben Hamida, M., Sokol, R., Arai, H., Inoue, K., Mandel, J-L., and Koenig, M. (1995). Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein. Nature Genet. 9: 141-145.
-
(1995)
Nature Genet.
, vol.9
, pp. 141-145
-
-
Ouahchi, K.1
Arita, M.2
Kayden, H.3
Hentati, F.4
Ben Hamida, M.5
Sokol, R.6
Arai, H.7
Inoue, K.8
Mandel, J.-L.9
Koenig, M.10
-
27
-
-
0029422556
-
Messages from an isolate: Lessons from the Finnish gene pool
-
Peltonen, L., Pekkarinen, P., and Aaltonen, J. (1995). Messages from an isolate: Lessons from the Finnish gene pool. Biol. Chem. 376: 697-704.
-
(1995)
Biol. Chem.
, vol.376
, pp. 697-704
-
-
Peltonen, L.1
Pekkarinen, P.2
Aaltonen, J.3
-
28
-
-
0023550055
-
Cloning and sequence of the human gene for P450c17 (steroid 17α-hydroxylase/17,20 lyase): Similarity with the gene for P450c21
-
Picado-Leonard, J., and Miller, W. L. (1987). Cloning and sequence of the human gene for P450c17 (steroid 17α-hydroxylase/17,20 lyase): Similarity with the gene for P450c21. DNA 6: 439-448.
-
(1987)
DNA
, vol.6
, pp. 439-448
-
-
Picado-Leonard, J.1
Miller, W.L.2
-
29
-
-
0022446922
-
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization
-
Pinkel, D., Straume, T., and Gray, J. W. (1986). Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA 83: 2934-2938.
-
(1986)
Proc. Natl. Acad. Sci. USA
, vol.83
, pp. 2934-2938
-
-
Pinkel, D.1
Straume, T.2
Gray, J.W.3
-
30
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
-
Ranum, L. P. W., Lawrence, J. S., Lundgren, J. K., Orr, H. T., and Livingston, D. M. (1994). Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet. 8: 280-284.
-
(1994)
Nature Genet.
, vol.8
, pp. 280-284
-
-
Ranum, L.P.W.1
Lawrence, J.S.2
Lundgren, J.K.3
Orr, H.T.4
Livingston, D.M.5
-
31
-
-
0003903343
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
-
Sambrook, J., Fritsch, E. F., and Maniatis, T. (1989). "Molecular Cloning: A Laboratory Manual," 2nd ed., Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
-
(1989)
"Molecular Cloning: A Laboratory Manual," 2nd Ed.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
32
-
-
0017681196
-
DNA sequencing with chain-terminating inhibitors
-
Sanger, F., Nicklen, S., and Coulson, A. R. (1977). DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA 74: 5463-5467.
-
(1977)
Proc. Natl. Acad. Sci. USA
, vol.74
, pp. 5463-5467
-
-
Sanger, F.1
Nicklen, S.2
Coulson, A.R.3
-
33
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky, K., Bar-Shira, A., Gilad, S., Rotman, G., Ziv, Y., Vanagaite, L., Tagle, D. A., Smith, S., Uziel, T., Sfez, S., Ashkenazi, M., Pecker, I., Frydman, M., Harnik, R., Pantanjali, S. R., Simmons, A., Clines, G. A., Sartiel, A., Gatti, R. A., Chessa, L., Sanal, O., Lavin, M. F., Jaspers N. G. J., Taylor, A. M. R., Arlett, C. F., Miki, T., Weissman, S. M., Lovett, M., Collins, F. S., and Shiloh, Y. (1995). A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-1753.
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
Rotman, G.4
Ziv, Y.5
Vanagaite, L.6
Tagle, D.A.7
Smith, S.8
Uziel, T.9
Sfez, S.10
Ashkenazi, M.11
Pecker, I.12
Frydman, M.13
Harnik, R.14
Pantanjali, S.R.15
Simmons, A.16
Clines, G.A.17
Sartiel, A.18
Gatti, R.A.19
Chessa, L.20
Sanal, O.21
Lavin, M.F.22
Jaspers, N.G.J.23
Taylor, A.M.R.24
Arlett, C.F.25
Miki, T.26
Weissman, S.M.27
Lovett, M.28
Collins, F.S.29
Shiloh, Y.30
more..
-
34
-
-
0023932094
-
Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction
-
Shibata, D. K., Norman, A., and Martin, W. J. (1988). Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction. J. Exp. Med. 1: 225-230.
-
(1988)
J. Exp. Med.
, vol.1
, pp. 225-230
-
-
Shibata, D.K.1
Norman, A.2
Martin, W.J.3
-
35
-
-
0028149640
-
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene
-
Sulisalo, T., Klockars, J., Mäkitie, O., Francomano, C. A., de la Chapelle, A., Kaitila, I., and Sistonen, P. (1994). High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. Am. J. Hum. Genet. 55: 937-945.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 937-945
-
-
Sulisalo, T.1
Klockars, J.2
Mäkitie, O.3
Francomano, C.A.4
De La Chapelle, A.5
Kaitila, I.6
Sistonen, P.7
-
36
-
-
0024437865
-
Direct sequencing of affinity-captured amplified human DNA: Application to the detection of apolipoprotein E polymorphism
-
Syvänen, A-C., Aalto-Setälä, K., Kontula, K., and Söderlund, H. (1989). Direct sequencing of affinity-captured amplified human DNA: Application to the detection of apolipoprotein E polymorphism. FEBS Lett. 258: 71-74.
-
(1989)
FEBS Lett.
, vol.258
, pp. 71-74
-
-
Syvänen, A.-C.1
Aalto-Setälä, K.2
Kontula, K.3
Söderlund, H.4
-
37
-
-
0025200279
-
R-banding and nonisotopic in situ hybridization: Precise localization of human type II collagen gene (COL2A1)
-
Takahashi, E.-I., Hori, T.-A., O'Connell, P., Leppert, M., and White, R. (1990). R-banding and nonisotopic in situ hybridization: Precise localization of human type II collagen gene (COL2A1). Hum. Genet. 86: 14-16.
-
(1990)
Hum. Genet.
, vol.86
, pp. 14-16
-
-
Takahashi, E.-I.1
Hori, T.-A.2
O'Connell, P.3
Leppert, M.4
White, R.5
-
38
-
-
0028968329
-
A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
-
Terwilliger, J. D. (1995). A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am. J. Hum. Genet. 56: 777-787.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 777-787
-
-
Terwilliger, J.D.1
-
39
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L., Agid, Y., Brice, A., and Mandel, J.-L. (1995). Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378: 403-406.
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
Lutz, Y.2
Stevanin, G.3
Imbert, G.4
Devys, D.5
Cancel, G.6
Saudou, F.7
Weber, C.8
David, G.9
Tora, L.10
Agid, Y.11
Brice, A.12
Mandel, J.-L.13
-
40
-
-
0021180032
-
Blot hybridisation analysis of genomic DNA
-
Vandenplas, S., Wiid, I., Grobler-Rabie, A., Brebner, K., Ricketts, M., Wallis, G., Bester, A., Boyd, C., and Mathew, C. (1984). Blot hybridisation analysis of genomic DNA. J. Med. Genet. 21: 164-172.
-
(1984)
J. Med. Genet.
, vol.21
, pp. 164-172
-
-
Vandenplas, S.1
Wiid, I.2
Grobler-Rabie, A.3
Brebner, K.4
Ricketts, M.5
Wallis, G.6
Bester, A.7
Boyd, C.8
Mathew, C.9
-
41
-
-
0029812169
-
Tracing an ancestral mutation: Genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus
-
Varilo, T., Nikali, K., Suomalainen, A., Lönnqvist, T., and Peltonen, L. (1996). Tracing an ancestral mutation: Genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. Genome Res. 6: 870-875.
-
(1996)
Genome Res.
, vol.6
, pp. 870-875
-
-
Varilo, T.1
Nikali, K.2
Suomalainen, A.3
Lönnqvist, T.4
Peltonen, L.5
-
42
-
-
0017258328
-
High resolution of human chromosomes
-
Yunis, J. J. (1996). High resolution of human chromosomes. Science 191: 1268-1270.
-
(1996)
Science
, vol.191
, pp. 1268-1270
-
-
Yunis, J.J.1
|