-
1
-
-
0026501942
-
Sequence identification of 2375 human brain genes
-
Adams M.D., Dubnick M., Kerlavage A.R., Moreno R., Kelley J.M., Utterback T.R., Nagle J.W., Fields C., Venter J.C. Sequence identification of 2375 human brain genes. Nature. 355:1992;632-634.
-
(1992)
Nature
, vol.355
, pp. 632-634
-
-
Adams, M.D.1
Dubnick, M.2
Kerlavage, A.R.3
Moreno, R.4
Kelley, J.M.5
Utterback, T.R.6
Nagle, J.W.7
Fields, C.8
Venter, J.C.9
-
2
-
-
17344371397
-
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
-
Brais B., Bouchard J.-P., Xie Y.-G., Rochefort D.L., Chretien N., Tomé F.M.S., Lafrenière R.G., Rommens J.M., Uyama E., Nohira O., Blumen S., Korcyn A.D., Heutink P., Mathieu J., Duanceau A., Codère F., Fardeau M., Rouleau G.A. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genet. 18:1998;164-167.
-
(1998)
Nature Genet.
, vol.18
, pp. 164-167
-
-
Brais, B.1
Bouchard, J.-P.2
Xie, Y.-G.3
Rochefort, D.L.4
Chretien, N.5
Tomé, F.M.S.6
Lafrenière, R.G.7
Rommens, J.M.8
Uyama, E.9
Nohira, O.10
Blumen, S.11
Korcyn, A.D.12
Heutink, P.13
Mathieu, J.14
Duanceau, A.15
Codère, F.16
Fardeau, M.17
Rouleau, G.A.18
-
3
-
-
0028885533
-
Survey of trinucleotide repeats in the human genome: Assessment of their utility as genetic markers
-
Gastier J.M., Pulido J.C., Sunden S., Brody T., Buetow K.H., Murray J.C., Weber J.L., Hudson T.J., Sheffield V.C., Duyk G.M. Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers. Hum. Mol. Genet. 4:1995;1829-1836.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1829-1836
-
-
Gastier, J.M.1
Pulido, J.C.2
Sunden, S.3
Brody, T.4
Buetow, K.H.5
Murray, J.C.6
Weber, J.L.7
Hudson, T.J.8
Sheffield, V.C.9
Duyk, G.M.10
-
4
-
-
0030035986
-
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16
-
Gregory C.Y., Evans K., Wijesuriya S.D., Kermani S., Jay M.R., Plant C., Cox N., Bird A.C., Bhatacharya S.S. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum. Mol. Genet. 5:1996;1055-1059.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1055-1059
-
-
Gregory, C.Y.1
Evans, K.2
Wijesuriya, S.D.3
Kermani, S.4
Jay, M.R.5
Plant, C.6
Cox, N.7
Bird, A.C.8
Bhatacharya, S.S.9
-
5
-
-
0029873571
-
Trinucleotide instability: A repeating theme in human inherited disorders
-
Gusella J.F., MacDonald M.E. Trinucleotide instability: a repeating theme in human inherited disorders. Annu. Rev. Med. 47:1996;201-209.
-
(1996)
Annu. Rev. Med.
, vol.47
, pp. 201-209
-
-
Gusella, J.F.1
MacDonald, M.E.2
-
6
-
-
0027451494
-
CAT repeat polymorphism in a human expressed sequence tag (EST00444) (D13S308E)
-
Haddad L.A., Pena S.D.J. CAT repeat polymorphism in a human expressed sequence tag (EST00444) (D13S308E). Hum. Mol. Genet. 2:1993;1748.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1748
-
-
Haddad, L.A.1
Pena, S.D.J.2
-
7
-
-
0030943844
-
Simultaneous detection of size and sequence polymorphisms in the transcribed trinucleotide repeat D2S196E (EST00493)
-
Haddad L.A., Fuzikawa A.K., Pena S.D.J. Simultaneous detection of size and sequence polymorphisms in the transcribed trinucleotide repeat D2S196E (EST00493). Hum. Genet. 99:1997;796-800.
-
(1997)
Hum. Genet.
, vol.99
, pp. 796-800
-
-
Haddad, L.A.1
Fuzikawa, A.K.2
Pena, S.D.J.3
-
9
-
-
0028920471
-
Linkage of posterior polymorphous corneal dystrophy to 20q11
-
Héon E., Mathers W.D., Alward W.L.M., Weisenthal R.W., Sunden S.L.F., Fishbaugh J.A., Taylor C.M., Krachmer J.H., Sheffield V.C., Stone E.M. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum. Mol. Genet. 4:1995;485-488.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 485-488
-
-
Héon, E.1
Mathers, W.D.2
Alward, W.L.M.3
Weisenthal, R.W.4
Sunden, S.L.F.5
Fishbaugh, J.A.6
Taylor, C.M.7
Krachmer, J.H.8
Sheffield, V.C.9
Stone, E.M.10
-
10
-
-
9044250844
-
Linkage of autosomal dominant radial drusen (Malattia Leventinese) to chromosome 2p16-21
-
Héon E., Piguet B., Munier F., Sneed S.R., Morgan C.M., Forni S., Pescia G., Schorderet D., Taylor C.M., Streb L.M., Wiles C.D., Nishimura D.Y., Sheffield V.C., Stone E.M. Linkage of autosomal dominant radial drusen (Malattia Leventinese) to chromosome 2p16-21. Arch. Ophthalmol. 114:1996;193-198.
-
(1996)
Arch. Ophthalmol.
, vol.114
, pp. 193-198
-
-
Héon, E.1
Piguet, B.2
Munier, F.3
Sneed, S.R.4
Morgan, C.M.5
Forni, S.6
Pescia, G.7
Schorderet, D.8
Taylor, C.M.9
Streb, L.M.10
Wiles, C.D.11
Nishimura, D.Y.12
Sheffield, V.C.13
Stone, E.M.14
-
11
-
-
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. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. 14:1996;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
-
12
-
-
0028070169
-
The exact numbers of possible microsatellite motifs
-
Jin L., Zhong Y., Chakraborty R. The exact numbers of possible microsatellite motifs. Am. J. Hum. Genet. 55:1994;582-583.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 582-583
-
-
Jin, L.1
Zhong, Y.2
Chakraborty, R.3
-
14
-
-
0029908301
-
Anticipation: An old idea in new genes
-
McInnis M.G. Anticipation: an old idea in new genes. Am. J. Hum. Genet. 59:1996;973-979.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 973-979
-
-
McInnis, M.G.1
-
15
-
-
0029950726
-
Cloning, characterization and properties of seven triplet repeat DNA sequences
-
Ohshima K., Kang S., Larson J.E., Wells R.D. Cloning, characterization and properties of seven triplet repeat DNA sequences. J. Biol. Chem. 271:1996;16773-16783.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 16773-16783
-
-
Ohshima, K.1
Kang, S.2
Larson, J.E.3
Wells, R.D.4
-
16
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst S.-M., Nechiporuk A., Nechiporuk T., 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. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 14:1996;269-276.
-
(1996)
Nature Genet.
, vol.14
, pp. 269-276
-
-
Pulst, S.-M.1
Nechiporuk, A.2
Nechiporuk, T.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
-
17
-
-
0030292368
-
Identification of 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. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 14:1996;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..
-
18
-
-
0027512686
-
Genetic and population study of an Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique
-
Santos F.R., Pena S.D.J., Epplen J.T. Genetic and population study of an Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique. Hum. Genet. 90:1993;655-656.
-
(1993)
Hum. Genet.
, vol.90
, pp. 655-656
-
-
Santos, F.R.1
Pena, S.D.J.2
Epplen, J.T.3
-
19
-
-
0030025332
-
CAC - The neglected repeat
-
Sertedaki A., Lindsay S. CAC - the neglected repeat. Bioessays. 18:1996;237-242.
-
(1996)
Bioessays
, vol.18
, pp. 237-242
-
-
Sertedaki, A.1
Lindsay, S.2
-
20
-
-
0028176566
-
Distribution of trinucleotide microsatellites in different categories of mammalian genomic sequence: Implications for human genetic diseases
-
Stallings R.L. Distribution of trinucleotide microsatellites in different categories of mammalian genomic sequence: implications for human genetic diseases. Genomics. 21:1994;116-121.
-
(1994)
Genomics
, vol.21
, pp. 116-121
-
-
Stallings, R.L.1
-
21
-
-
0027983965
-
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9
-
Yamaoka L.H., Westbrook C.A., Speer M.C., Gilchrist J.M., Jabs E.W., Schweins E.G., Stajich J.M., Gaskell P.C., Roses A.D., Pericak-Vance M.A. Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. Neuromusc. Disord. 4:1994;471-475.
-
(1994)
Neuromusc. Disord.
, vol.4
, pp. 471-475
-
-
Yamaoka, L.H.1
Westbrook, C.A.2
Speer, M.C.3
Gilchrist, J.M.4
Jabs, E.W.5
Schweins, E.G.6
Stajich, J.M.7
Gaskell, P.C.8
Roses, A.D.9
Pericak-Vance, M.A.10
-
22
-
-
0031012399
-
1A-voltage-dependent calcium channel
-
1A-voltage-dependent calcium channel. Nature Genet. 15:1997;62-69.
-
(1997)
Nature Genet.
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
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