-
1
-
-
0029584496
-
Trinucleotide repeat expansion and human disease
-
Ashley CT, Warren ST (1995) Trinucleotide repeat expansion and human disease. Annu Rev Genet 29:703-728
-
(1995)
Annu Rev Genet
, vol.29
, pp. 703-728
-
-
Ashley, C.T.1
Warren, S.T.2
-
2
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
Brown WT, Houck GE Jr, Jeziorowska A, Levinson FN, Ding X, Dobkin C, Zhong N, et al (1993) Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 270:1569-1575
-
(1993)
JAMA
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck Jr., G.E.2
Jeziorowska, A.3
Levinson, F.N.4
Ding, X.5
Dobkin, C.6
Zhong, N.7
-
3
-
-
0028365522
-
Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase
-
Chong SS, Eichler EE, Nelson DL, Hughes MR (1994) Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet 51:522-526
-
(1994)
Am J Med Genet
, vol.51
, pp. 522-526
-
-
Chong, S.S.1
Eichler, E.E.2
Nelson, D.L.3
Hughes, M.R.4
-
4
-
-
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, 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
-
5
-
-
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
-
Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, et al (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
-
-
Lafrenière, R.G.1
Rochefort, D.L.2
Chrétien, N.3
Rommens, J.M.4
Cochius, J.I.5
Kälviäinen, R.6
Nousiainen, U.7
-
6
-
-
16944365407
-
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
-
Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, et al (1997a) Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet 60:342-351
-
(1997)
Am J Hum Genet
, vol.60
, pp. 342-351
-
-
Lalioti, M.D.1
Mirotsou, M.2
Buresi, C.3
Peitsch, M.C.4
Rossier, C.5
Ouazzani, R.6
Baldy-Moulinier, M.7
-
8
-
-
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, et al (1997c) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386:847-852
-
(1997)
Nature
, vol.386
, pp. 847-852
-
-
Lalioti, M.D.1
Scott, H.S.2
Buresi, C.3
Rossier, C.4
Bottani, A.5
Morris, M.A.6
Malafosse, A.7
-
9
-
-
0030904035
-
Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients: Clinical and genetic correlates
-
Lamont PJ, Davis MB, Wood NW (1997) Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients: clinical and genetic correlates. Brain 120:673-680
-
(1997)
Brain
, vol.120
, pp. 673-680
-
-
Lamont, P.J.1
Davis, M.B.2
Wood, N.W.3
-
10
-
-
0028245479
-
Improved sizing of fragile X CCG repeats by nested polymerase chain reaction
-
Levinson G, Maddalena A, Palmer FT, Harton GL, Bick DP, Howard-Peebles PN, Black SH, et al (1994) Improved sizing of fragile X CCG repeats by nested polymerase chain reaction. Am J Med Genet 51:527-534
-
(1994)
Am J Med Genet
, vol.51
, pp. 527-534
-
-
Levinson, G.1
Maddalena, A.2
Palmer, F.T.3
Harton, G.L.4
Bick, D.P.5
Howard-Peebles, P.N.6
Black, S.H.7
-
11
-
-
0027108688
-
Identical genetic locus for Baltic and Mediterranean myoclonus
-
Malafosse A, Lehesjoki AE, Genton P, Labauge P, Durand G, Tassinari CA, Dravet C, et al (1992) Identical genetic locus for Baltic and Mediterranean myoclonus. Lancet 339: 1080-1081
-
(1992)
Lancet
, vol.339
, pp. 1080-1081
-
-
Malafosse, A.1
Lehesjoki, A.E.2
Genton, P.3
Labauge, P.4
Durand, G.5
Tassinari, C.A.6
Dravet, C.7
-
12
-
-
0030862745
-
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
-
Monros E, Molto MD, Martinez F, Canizares J, Blanca J, Vilchez JJ, Prieto F, et al (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
-
-
Monros, E.1
Molto, M.D.2
Martinez, F.3
Canizares, J.4
Blanca, J.5
Vilchez, J.J.6
Prieto, F.7
-
13
-
-
17144467700
-
Phenotypic variability in Friedreich's ataxia: Role of the associated GAA triplet repeat expansion
-
Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, et al (1997) Phenotypic variability in Friedreich's ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 41:675-682
-
(1997)
Ann Neurol
, vol.41
, pp. 675-682
-
-
Montermini, L.1
Richter, A.2
Morgan, K.3
Justice, C.M.4
Julien, D.5
Castellotti, B.6
Mercier, J.7
-
14
-
-
0029968460
-
Trinucleotide repeats in neurogenetic disorders
-
Paulson HL, Fischbeck KH (1996) Trinucleotide repeats in neurogenetic disorders. Annu Rev Neurosci 19:79-107
-
(1996)
Annu Rev Neurosci
, vol.19
, pp. 79-107
-
-
Paulson, H.L.1
Fischbeck, K.H.2
-
15
-
-
13344269666
-
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
-
Pennacchio LA, Lehesjoki A-E, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, et al (1996) Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271:1731-1734
-
(1996)
Science
, vol.271
, pp. 1731-1734
-
-
Pennacchio, L.A.1
Lehesjoki, A.-E.2
Stone, N.E.3
Willour, V.L.4
Virtaneva, K.5
Miao, J.6
D'Amato, E.7
-
16
-
-
0026767610
-
Dynamic mutations: A new class of mutations causing human disease
-
Richards RI, Sutherland GR (1992) Dynamic mutations: a new class of mutations causing human disease. Cell 70:709-712
-
(1992)
Cell
, vol.70
, pp. 709-712
-
-
Richards, R.I.1
Sutherland, G.R.2
-
17
-
-
0025817602
-
The cystatins: Protein inhibitors of cysteine proteinases
-
Turk V, Bode W (1991) The cystatins: protein inhibitors of cysteine proteinases. FEBS 285:213-219
-
(1991)
FEBS
, vol.285
, pp. 213-219
-
-
Turk, V.1
Bode, W.2
-
18
-
-
17744419667
-
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
-
Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, et al (1997) Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 15:393-396
-
(1997)
Nat Genet
, vol.15
, pp. 393-396
-
-
Virtaneva, K.1
D'Amato, E.2
Miao, J.3
Koskiniemi, M.4
Norio, R.5
Avanzini, G.6
Franceschetti, S.7
|