-
1
-
-
0031987355
-
CAG/CTG and CGG/GCC repeats in human brain reference cDNA: Outcome in searching for new dynamic mutations
-
Albanese V, Holbert S, Saada C, Meier-Ewert S, Lehre A-S, Moriniere S, Bougueleret L, Le Gall I, Weissenbach J, Lennon G, Lehrach H, Cohen D, Cann HM, Neri C (1998) CAG/CTG and CGG/GCC repeats in human brain reference cDNA: outcome in searching for new dynamic mutations. Genome 47:414-418
-
(1998)
Genome
, vol.47
, pp. 414-418
-
-
Albanese, V.1
Holbert, S.2
Saada, C.3
Meier-Ewert, S.4
Lehre, A.-S.5
Moriniere, S.6
Bougueleret, L.7
Le Gall, I.8
Weissenbach, J.9
Lennon, G.10
Lehrach, H.11
Cohen, D.12
Cann, H.M.13
Neri, C.14
-
2
-
-
0030801002
-
Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
-
Altshul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25:3389-3402
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 3389-3402
-
-
Altshul, S.F.1
Madden, T.L.2
Schaffer, A.A.3
Zhang, J.4
Zhang, Z.5
Miller, W.6
Lipman, D.J.7
-
3
-
-
0028814547
-
Differential effects of simple repeating DNA sequences on gene expression from the SV40 early promotor
-
Amirhaeri S, Wohlrab F, Wells RD (1995) Differential effects of simple repeating DNA sequences on gene expression from the SV40 early promotor. J Biol Chem 270:3313-3319
-
(1995)
J Biol Chem
, vol.270
, pp. 3313-3319
-
-
Amirhaeri, S.1
Wohlrab, F.2
Wells, R.D.3
-
5
-
-
0028304859
-
Chromosome 18 DNA markers and manic-depressive illness: Evidence for a susceptibility gene
-
Berrettini WH, Ferraro TN, Goldin LR, Weeks DE, Detera-Wadleigh S, Nurnberger JI J, Gershon ES (1994) Chromosome 18 DNA markers and manic-depressive illness: evidence for a susceptibility gene. Proc Natl Acad Sci USA 91:5918-5921
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 5918-5921
-
-
Berrettini, W.H.1
Ferraro, T.N.2
Goldin, L.R.3
Weeks, D.E.4
Detera-Wadleigh, S.5
Nurnberger, J.I.J.6
Gershon, E.S.7
-
6
-
-
17344371397
-
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
-
Brais B, Bourchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, LaFreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korcyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18:164-167
-
(1998)
Nat Genet
, vol.18
, pp. 164-167
-
-
Brais, B.1
Bourchard, J.P.2
Xie, Y.G.3
Rochefort, D.L.4
Chretien, N.5
Tome, F.M.6
LaFreniere, 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
Duranceau, A.15
Codere, F.16
Fardeau, M.17
Rouleau, G.A.18
-
7
-
-
0000818854
-
A novel, heritable, expanding CTG repeat in an intron of SEF2-1 localizes to human chromosome 18q21.1
-
Breschel T, McInnis MG, Margolis RL, Sirugo G, Corneliuseen B, Simpson SG, McMahon FJ, MacKinnon DF, Xu JF, Pleasant N, Huo Y, Ashworth RG, Grundstrom C, Grundstrom T, Kidd KK, DePaulo JR, Ross CA (1997) A novel, heritable, expanding CTG repeat in an intron of SEF2-1 localizes to human chromosome 18q21.1. Hum Mol Genet 6:1855-1864
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1855-1864
-
-
Breschel, T.1
McInnis, M.G.2
Margolis, R.L.3
Sirugo, G.4
Corneliuseen, B.5
Simpson, S.G.6
McMahon, F.J.7
MacKinnon, D.F.8
Xu, J.F.9
Pleasant, N.10
Huo, Y.11
Ashworth, R.G.12
Grundstrom, C.13
Grundstrom, T.14
Kidd, K.K.15
DePaulo, J.R.16
Ross, C.A.17
-
8
-
-
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 JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE (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, A.J.4
Church, D.5
Aburatani, H.6
Hunter, K.7
Davies, J.8
Shelbourne, P.9
Buxton, J.10
Jones, C.11
Juvonen, V.12
Johnson, K.13
Harper, P.S.14
Shaw, D.J.15
Housman, D.E.16
-
9
-
-
0030867433
-
Identification and chromosomal localization of human genes containing CAG/CTG repeats expressed in testis and brain
-
Bulle F, Chiannilkulchai N, Pawlak A, Weissenbach J, Gyapay G, Guellaen G (1997) Identification and chromosomal localization of human genes containing CAG/CTG repeats expressed in testis and brain. Genome Res 7:705-715
-
(1997)
Genome Res
, vol.7
, pp. 705-715
-
-
Bulle, F.1
Chiannilkulchai, N.2
Pawlak, A.3
Weissenbach, J.4
Gyapay, G.5
Guellaen, G.6
-
10
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani S, Gellera C, Brice A, Trouillas P, DeMichele G, Filla A, DeFrutos R, Palau F, Patel PI, Pragna I, DiDonato S, Mandel J-L, Cocozza S, Koenig M, 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
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Canizares, J.12
Koutnikova, H.13
Bidichandani, S.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
DeMichele, G.18
Filla, A.19
DeFrutos, R.20
Palau, F.21
Patel, P.I.22
Pragna, I.23
DiDonato, S.24
Mandel, J.-L.25
Cocozza, S.26
Koenig, M.27
Pandolfo, M.28
more..
-
11
-
-
0025280026
-
Centre d'Etude du Polymorphisme humaine (CEPH). Collaborative genetic mapping of the human genome
-
Dausset J, Cann H, Cohen D, Lathrop m, Lalouel JM, White R (1990) Centre d'Etude du Polymorphisme humaine (CEPH). Collaborative genetic mapping of the human genome. Genome 6:575-577
-
(1990)
Genome
, vol.6
, pp. 575-577
-
-
Dausset, J.1
Cann, H.2
Cohen, D.3
Lathrop, M.4
Lalouel, J.M.5
White, R.6
-
12
-
-
0027310950
-
Characterization of NIGMS human/rodent somatic cell hybrid mapping panel 2 by PCR
-
Dubois BL, Naylor SL (1993) Characterization of NIGMS human/rodent somatic cell hybrid mapping panel 2 by PCR. Genome 16:315-319
-
(1993)
Genome
, vol.16
, pp. 315-319
-
-
Dubois, B.L.1
Naylor, S.L.2
-
13
-
-
0031451149
-
The WW domain of neural protein FE65 interacts with proline-rich motifs in Mena, the mammalian homolog of Drosophila enabled
-
Ermekova KS, Zambrano N, Linn H, Minopoli G, Gertler F, Russo T, Sudol M (1997) The WW domain of neural protein FE65 interacts with proline-rich motifs in Mena, the mammalian homolog of Drosophila enabled. J Biol Chem 272:32869-32877
-
(1997)
J Biol Chem
, vol.272
, pp. 32869-32877
-
-
Ermekova, K.S.1
Zambrano, N.2
Linn, H.3
Minopoli, G.4
Gertler, F.5
Russo, T.6
Sudol, M.7
-
14
-
-
8044244201
-
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24
-
Galdwin A, Donnai D, Metcalfe K, Schrander-Stumpel C, Brueton L, Verloes A, Aylsworth A, Toriello H, Winter R, Dixon M (1997) Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. Hum Mol Genet 6:123-127
-
(1997)
Hum Mol Genet
, vol.6
, pp. 123-127
-
-
Galdwin, A.1
Donnai, D.2
Metcalfe, K.3
Schrander-Stumpel, C.4
Brueton, L.5
Verloes, A.6
Aylsworth, A.7
Toriello, H.8
Winter, R.9
Dixon, M.10
-
15
-
-
0029912537
-
n dynamic mutations
-
n dynamic mutations. Genome 32:75-85
-
(1996)
Genome
, vol.32
, pp. 75-85
-
-
Gastier, J.M.1
Brody, T.2
Pulido, J.C.3
Businga, T.4
Sunden, S.5
Hu, X.6
Maitra, S.7
Buetow, K.H.8
Murray, J.C.9
Sheffield, V.C.10
Boguski, M.11
Duyk, G.M.12
Hudson, T.J.13
-
16
-
-
0029874880
-
A combined analysis of D22S278 marker alleles in affected sib-pairs: Support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22)
-
Gill M, Vallada H, Collier D, Sham P, Holmans P, Murray R, McGuffin P, Nanko S, Owen M, Antonarakis S, Housman D, Kazazian H, Nestadt G, Pulver AE, Straub RE, MacLean CJ, Walsh D, Kendler KS, DeLisi L, Polymeropoulos M, Coon H, Byerley W, Lofthouse R, Gershon E, et al (1996) A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22). Am J Med Genet 67:40-45
-
(1996)
Am J Med Genet
, vol.67
, pp. 40-45
-
-
Gill, M.1
Vallada, H.2
Collier, D.3
Sham, P.4
Holmans, P.5
Murray, R.6
McGuffin, P.7
Nanko, S.8
Owen, M.9
Antonarakis, S.10
Housman, D.11
Kazazian, H.12
Nestadt, G.13
Pulver, A.E.14
Straub, R.E.15
MacLean, C.J.16
Walsh, D.17
Kendler, K.S.18
DeLisi, L.19
Polymeropoulos, M.20
Coon, H.21
Byerley, W.22
Lofthouse, R.23
Gershon, E.24
more..
-
17
-
-
12644284524
-
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
-
Goodman FR, Mundlos C, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ (1997) Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci USA 94:7458-7463
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 7458-7463
-
-
Goodman, F.R.1
Mundlos, C.2
Muragaki, Y.3
Donnai, D.4
Giovannucci-Uzielli, M.L.5
Lapi, E.6
Majewski, F.7
McGaughran, J.8
McKeown, C.9
Reardon, W.10
Upton, J.11
Winter, R.M.12
Olsen, B.R.13
Scambler, P.J.14
-
18
-
-
0028118434
-
Protein family classification based on searching a database of blocks
-
Henikoff S, Henikoff JG (1994) Protein family classification based on searching a database of blocks. Genome 19:97-107
-
(1994)
Genome
, vol.19
, pp. 97-107
-
-
Henikoff, S.1
Henikoff, J.G.2
-
19
-
-
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 (Group 1), Cancel G, Abbas N, Durr A, Didierjean O, Stevanin, Agid Y, Brice A (Group 2) (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:295-296
-
(1996)
Nat Genet
, vol.14
, pp. 295-296
-
-
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
Durr, A.11
Didierjean, O.12
Stevanin13
Agid, Y.14
Brice, A.15
-
21
-
-
0028896099
-
Association of a chromosome deletion syndrome with a fragile site with the proto-oncogene CBL2
-
Jones C, Penny L, Mattina T, Yu S, Baker E, Voullaire L, Langdon WY, Sutherland GR, Richards RI, Tunnacliffe A (1995) Association of a chromosome deletion syndrome with a fragile site with the proto-oncogene CBL2. Nature 376:145-149
-
(1995)
Nature
, vol.376
, pp. 145-149
-
-
Jones, C.1
Penny, L.2
Mattina, T.3
Yu, S.4
Baker, E.5
Voullaire, L.6
Langdon, W.Y.7
Sutherland, G.R.8
Richards, R.I.9
Tunnacliffe, A.10
-
22
-
-
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. Nat Genet 8:221-228
-
(1994)
Nat 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
-
23
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middletonprice HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies KE (1993) Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127-134
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.L.1
Flannery, A.V.2
Hirst, M.C.3
Campbell, L.4
Christodoulou, Z.5
Phelps, S.R.6
Pointon, J.7
Middletonprice, H.R.8
Barnicoat, A.9
Pembrey, M.E.10
Holland, J.11
Oostra, B.A.12
Bobrow, M.13
Davies, K.E.14
-
24
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide O, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, O.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
Tomoda, A.11
Miike, T.12
Naito, H.13
Ikuta, F.14
Tsuji, S.15
-
25
-
-
0029795605
-
Enhancement of transcription by short alternating C.G tracts incorporated within a Rous sarcoma virus-based chimeric promotor: In vivo studies
-
Krajewski WA (1996) Enhancement of transcription by short alternating C.G tracts incorporated within a Rous sarcoma virus-based chimeric promotor: in vivo studies. Mol Gen Genet 252:249-254
-
(1996)
Mol Gen Genet
, vol.252
, pp. 249-254
-
-
Krajewski, W.A.1
-
26
-
-
0031034894
-
Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
-
LaFreniere RG, Rochefort DL, Chretien N, Rommens JM, Cochius JI, Kalviainen R, Nousiainen U, Patry G, Farrell K, Soderfeldt B, Federico A, Hale BR, Cossio OH, Sorensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA (1997) Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 15:298-302
-
(1997)
Nat Genet
, vol.15
, pp. 298-302
-
-
LaFreniere, R.G.1
Rochefort, D.L.2
Chretien, N.3
Rommens, J.M.4
Cochius, J.I.5
Kalviainen, R.6
Nousiainen, U.7
Patry, G.8
Farrell, K.9
Soderfeldt, B.10
Federico, A.11
Hale, B.R.12
Cossio, O.H.13
Sorensen, T.14
Pouliot, M.A.15
Kmiec, T.16
Uldall, P.17
Janszky, J.18
Pranzatelli, M.R.19
Andermann, F.20
Andermann, E.21
Rouleau, G.A.22
more..
-
27
-
-
0030964106
-
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
-
Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE (1997) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386:847-851
-
(1997)
Nature
, vol.386
, pp. 847-851
-
-
Lalioti, M.D.1
Scott, H.S.2
Buresi, C.3
Rossier, C.4
Bottani, A.5
Morris, M.A.6
Malafosse, A.7
Antonarakis, S.E.8
-
28
-
-
0027297703
-
Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms
-
Li S-H, McInnis MG, Margolis RL, Antonarakis SE, Ross CA (1993) Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genome 16:572-279
-
(1993)
Genome
, vol.16
, pp. 572-279
-
-
Li, S.-H.1
McInnis, M.G.2
Margolis, R.L.3
Antonarakis, S.E.4
Ross, C.A.5
-
29
-
-
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, Nelville C, Narang M, Barcelo J, O'Hoy K, Leblond S, Earle-MacDonald J, DeJong PJ, Wieringa B, Korneluk RG (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
Nelville, C.7
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
Leblond, S.11
Earle-MacDonald, J.12
DeJong, P.J.13
Wieringa, B.14
Korneluk, R.G.15
-
30
-
-
0029589935
-
Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain
-
Margolis RL, Breschel TS, Li S-H, Kidwai AS, Antonarakis SE, McInnis MG, Ross CA (1995a) Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain. Somat Cell Mol Genet 21:279-284
-
(1995)
Somat Cell Mol Genet
, vol.21
, pp. 279-284
-
-
Margolis, R.L.1
Breschel, T.S.2
Li, S.-H.3
Kidwai, A.S.4
Antonarakis, S.E.5
McInnis, M.G.6
Ross, C.A.7
-
32
-
-
0030840917
-
cDNAs with long CAG trinucleotide repeats from human brain
-
Margolis RL, Abraham MA, Gatchell SB, Li S-H, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA (1997) cDNAs with long CAG trinucleotide repeats from human brain. Hum Genet 100:114-122
-
(1997)
Hum Genet
, vol.100
, pp. 114-122
-
-
Margolis, R.L.1
Abraham, M.A.2
Gatchell, S.B.3
Li, S.-H.4
Kidwai, A.S.5
Breschel, T.S.6
Stine, O.C.7
Callahan, C.8
McInnis, M.G.9
Ross, C.A.10
-
33
-
-
0029908301
-
Anticipation: An old idea in new genes
-
McInnis MG (1996) Anticipation: an old idea in new genes. Am J Hum Genet 59:973-979
-
(1996)
Am J Hum Genet
, vol.59
, pp. 973-979
-
-
McInnis, M.G.1
-
35
-
-
0031983653
-
Neurexins: Three genes and 1001 products
-
Missler M, Sudhof TC (1998) Neurexins: three genes and 1001 products. Trends Genet 14:20-26
-
(1998)
Trends Genet
, vol.14
, pp. 20-26
-
-
Missler, M.1
Sudhof, T.C.2
-
36
-
-
0030002141
-
The molecular basis of hypodactyly (Hd): A deletion in Hoxa 13 leads to arrest of digital arch formation
-
Mortlock DP, Post LC, Innis JW (1996) The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation. Nat Genet 13:284-289
-
(1996)
Nat Genet
, vol.13
, pp. 284-289
-
-
Mortlock, D.P.1
Post, L.C.2
Innis, J.W.3
-
37
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JHM, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR (1997) Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773-779
-
(1997)
Cell
, vol.89
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
Mulliken, J.B.4
Aylsworth, A.S.5
Albright, S.6
Lindhout, D.7
Cole, W.G.8
Henn, W.9
Knoll, J.H.M.10
Owen, M.J.11
Mertelsmann, R.12
Zabel, B.U.13
Olsen, B.R.14
-
38
-
-
0029871929
-
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
-
Muragaki Y, Mundlos S, Upton J, Olsen BR (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272:548-551
-
(1996)
Science
, vol.272
, pp. 548-551
-
-
Muragaki, Y.1
Mundlos, S.2
Upton, J.3
Olsen, B.R.4
-
39
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy is caused by an expansion of an unstable CAG trinucleotide repeat on chromosome 12p
-
Nagafuchi S, Yanagisawa H, Soto 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, Yamada M (1994) Dentatorubral and pallidoluysian atrophy is caused by an expansion of an unstable CAG trinucleotide repeat on chromosome 12p. Nat Genet 6:14-18
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Soto, 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..
-
40
-
-
8944262197
-
Survey of CAG/CTG repeats in human cDNAs representing new genes: Candidates for inherited neurological disorders
-
Neri C, Albanese V, Lebre AS, Holbert S, Saada C, Bougueleret L, Meier-Ewert S, Le Gall I, Millasseau P, Bui H, Giudicelli C, Massart C, Guillou S, Gervy P, Poullier E, Rigault P, Weissenbach J, Lennon G, Chumakov I, Dausset J, Lehrach H, Cohen D, Cann HM (1996) Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders. Hum Mol Genet 5:1001-1009
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1001-1009
-
-
Neri, C.1
Albanese, V.2
Lebre, A.S.3
Holbert, S.4
Saada, C.5
Bougueleret, L.6
Meier-Ewert, S.7
Le Gall, I.8
Millasseau, P.9
Bui, H.10
Giudicelli, C.11
Massart, C.12
Guillou, S.13
Gervy, P.14
Poullier, E.15
Rigault, P.16
Weissenbach, J.17
Lennon, G.18
Chumakov, I.19
Dausset, J.20
Lehrach, H.21
Cohen, D.22
Cann, H.M.23
more..
-
42
-
-
84970050019
-
Human genes containing polymorphic trinucleotide repeats
-
Riggins GJ, Lokey LK, Chastain JL, Leiner HA, Sherman SL, Wilkinson KD, Warren ST (1992) Human genes containing polymorphic trinucleotide repeats. Nat Genet 2:186-190
-
(1992)
Nat Genet
, vol.2
, pp. 186-190
-
-
Riggins, G.J.1
Lokey, L.K.2
Chastain, J.L.3
Leiner, H.A.4
Sherman, S.L.5
Wilkinson, K.D.6
Warren, S.T.7
-
43
-
-
0031446233
-
Intranuclear neuronal inclusions: A common pathogenic mechanism for glutamine-repeat neurodegenerative diseases?
-
Ross CA (1997) Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine-repeat neurodegenerative diseases? Neuron 19:1147-1150
-
(1997)
Neuron
, vol.19
, pp. 1147-1150
-
-
Ross, C.A.1
-
44
-
-
0027300219
-
Genes with triplet repeats: Candidate mediators of neuropsychiatric disorders
-
Ross CA, Mclnnis MG, Margolis RL, Li S-H (1993) Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. Trends Neurosci 16:254-260
-
(1993)
Trends Neurosci
, vol.16
, pp. 254-260
-
-
Ross, C.A.1
Mclnnis, M.G.2
Margolis, R.L.3
Li, S.-H.4
-
45
-
-
0342454322
-
Pathogenesis of polyglutamine neurodegenerative diseases: Towards a unifying mechanism
-
Wells RD, Warren ST (eds) Academic Press, San Diego
-
Ross CA, Margolis RL, Becher MW, Wood JD, Engelender S, Sharp AH (1998) Pathogenesis of polyglutamine neurodegenerative diseases: towards a unifying mechanism. In: Wells RD, Warren ST (eds) Genetic instabilities and hereditary neurological diseases. Academic Press, San Diego, pp 761-776
-
(1998)
Genetic Instabilities and Hereditary Neurological Diseases
, pp. 761-776
-
-
Ross, C.A.1
Margolis, R.L.2
Becher, M.W.3
Wood, J.D.4
Engelender, S.5
Sharp, A.H.6
-
46
-
-
0031434001
-
Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to eag and cyclic nucleotide-gated channels
-
Santoro B, Grant SG, Bartsch D, Kandel ER (1997) Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to eag and cyclic nucleotide-gated channels. Proc Natl Acad Sci USA 94:14815-14820
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 14815-14820
-
-
Santoro, B.1
Grant, S.G.2
Bartsch, D.3
Kandel, E.R.4
-
47
-
-
0032577559
-
Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain
-
Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA, Tibbs GR (1998) Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain. Cell 93:717-729
-
(1998)
Cell
, vol.93
, pp. 717-729
-
-
Santoro, B.1
Liu, D.T.2
Yao, H.3
Bartsch, D.4
Kandel, E.R.5
Siegelbaum, S.A.6
Tibbs, G.R.7
-
48
-
-
10244230901
-
A gene map of the human genome
-
Schuler GD (1996) A gene map of the human genome. Science 274:540-546
-
(1996)
Science
, vol.274
, pp. 540-546
-
-
Schuler, G.D.1
-
49
-
-
0031283407
-
G proteins, effectors and GAPs: Structure and mechanism
-
Sprang SR (1997) G proteins, effectors and GAPs: structure and mechanism. Curr Opin Struct Biol 7:849-856
-
(1997)
Curr Opin Struct Biol
, vol.7
, pp. 849-856
-
-
Sprang, S.R.1
-
50
-
-
0028141719
-
A method for constructing radiation hybrid maps of whole genomes
-
Walter M, Spillett D, Thomas P, Weissenbach J, Goodfellow P (1996) A method for constructing radiation hybrid maps of whole genomes. Nat Genet 7:22-28
-
(1996)
Nat Genet
, vol.7
, pp. 22-28
-
-
Walter, M.1
Spillett, D.2
Thomas, P.3
Weissenbach, J.4
Goodfellow, P.5
-
51
-
-
9044240040
-
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
-
Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, Jager T de, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12:17-23
-
(1996)
Nat Genet
, vol.12
, pp. 17-23
-
-
Wang, Q.1
Curran, M.E.2
Splawski, I.3
Burn, T.C.4
Millholland, J.M.5
VanRaay, T.J.6
Shen, J.7
Timothy, K.W.8
Vincent, G.M.9
De Jager, T.10
Schwartz, P.J.11
Toubin, J.A.12
Moss, A.J.13
Atkinson, D.L.14
Landes, G.M.15
Connors, T.D.16
Keating, M.T.17
-
53
-
-
0028835212
-
BEAUTY: An enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results
-
Worley KC, Wiese BA, Smith RF (1995) BEAUTY: an enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results. Genet Res 5:173-184
-
(1995)
Genet Res
, vol.5
, pp. 173-184
-
-
Worley, K.C.1
Wiese, B.A.2
Smith, R.F.3
-
54
-
-
0026347628
-
Fragile X genotype characterized by an unstable region of DNA
-
Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley JC, Warren ST, Schlessinger D, Sutherland GR, Richards RI (1992) Fragile X genotype characterized by an unstable region of DNA. Science 252:1179-1981
-
(1992)
Science
, vol.252
, pp. 1179-1981
-
-
Yu, S.1
Pritchard, M.2
Kremer, E.3
Lynch, M.4
Nancarrow, J.5
Baker, E.6
Holman, K.7
Mulley, J.C.8
Warren, S.T.9
Schlessinger, D.10
Sutherland, G.R.11
Richards, R.I.12
-
55
-
-
0031012399
-
1A-voltage-dependent calcium channel
-
1A-voltage-dependent calcium channel. Nat Genet 15:62-69
-
(1997)
Nat 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
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