-
2
-
-
0001966753
-
Physical and behavioral phenotype
-
Hagerman RJ, Silverman AC, eds. Baltimore: Johns Hopkins University Press
-
Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Silverman AC, eds. Fragile X Syndrome: Diagnosis, Treatment and Research. Baltimore: Johns Hopkins University Press, 1996: 3-87.
-
(1996)
Fragile X Syndrome: Diagnosis, Treatment and Research
, pp. 3-87
-
-
Hagerman, R.J.1
-
3
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DP, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991; 67: 1047-58.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
-
4
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905-14.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
-
5
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberlé I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991; 252: 1097-102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberlé, I.1
Rousseau, F.2
Heitz, D.3
-
6
-
-
0028360849
-
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
-
Kunst CB, Warren ST. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994; 77: 853-61.
-
(1994)
Cell
, vol.77
, pp. 853-861
-
-
Kunst, C.B.1
Warren, S.T.2
-
7
-
-
0027525069
-
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
-
Snow K, Doud LK, Hagerman R, Pergohizzi RG, Erster SH, Thibodeau SN. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 1993; 53: 1217-28.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1217-1228
-
-
Snow, K.1
Doud, L.K.2
Hagerman, R.3
Pergohizzi, R.G.4
Erster, S.H.5
Thibodeau, S.N.6
-
8
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M, Zhang FP, Fu YH, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991; 66: 817-22.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
-
9
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
Sutcliffe JS, Nelson DL, Zhang F, et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1992; 1: 397-400.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 397-400
-
-
Sutcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
-
10
-
-
0027236971
-
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
-
Verheij C, Bakker CE, de Graaff E, et al. Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 1993; 363: 722-4.
-
(1993)
Nature
, vol.363
, pp. 722-724
-
-
Verheij, C.1
Bakker, C.E.2
De Graaff, E.3
-
11
-
-
0027176361
-
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
-
Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993; 4: 335-40.
-
(1993)
Nat Genet
, vol.4
, pp. 335-340
-
-
Devys, D.1
Lutz, Y.2
Rouyer, N.3
Bellocq, J.P.4
Mandel, J.L.5
-
12
-
-
0030753950
-
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis
-
Tamanini F, Willemsen R, van Unen L, et al. Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum Mol Genet 1997; 6, 1315-22.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1315-1322
-
-
Tamanini, F.1
Willemsen, R.2
Van Unen, L.3
-
14
-
-
0030051618
-
Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of FMR1 protein isoforms
-
Sittler A, Devys D, Weber C, Mandel JL. Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of FMR1 protein isoforms. Hum Mol Genet 1996; 5: 95-102.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 95-102
-
-
Sittler, A.1
Devys, D.2
Weber, C.3
Mandel, J.L.4
-
15
-
-
0029816723
-
The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals
-
Eberhart DE, Maletr HE, Feng Y, Warren ST. The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Hum Mol Genet 1996; 5: 1083-91.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1083-1091
-
-
Eberhart, D.E.1
Maletr, H.E.2
Feng, Y.3
Warren, S.T.4
-
16
-
-
0027377580
-
FMR1 protein: Conserved RNP family domains and selective RNA binding
-
Ashley C Jr, Wilkinson KD, Reines D, Warren ST. FMR1 protein: conserved RNP family domains and selective RNA binding. Science 1993; 262: 563-6.
-
(1993)
Science
, vol.262
, pp. 563-566
-
-
Ashley Jr., C.1
Wilkinson, K.D.2
Reines, D.3
Warren, S.T.4
-
17
-
-
0027327486
-
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
-
Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 1993; 74: 291-8.
-
(1993)
Cell
, vol.74
, pp. 291-298
-
-
Siomi, H.1
Siomi, M.C.2
Nussbaum, R.L.3
Dreyfuss, G.4
-
18
-
-
0027509234
-
A point mutation in the FMR-1 gene associated with fragile X mental retardation
-
De Boulle K, Verkerk AJ, Reyniers E, et al. A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 1993; 3: 31-5.
-
(1993)
Nat Genet
, vol.3
, pp. 31-35
-
-
De Boulle, K.1
Verkerk, A.J.2
Reyniers, E.3
-
19
-
-
0028236525
-
Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome
-
Siomi H, Choi M, Siomi MC, Nussbaum RL, Dreyfuss G. Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell 1994; 77: 33-9.
-
(1994)
Cell
, vol.77
, pp. 33-39
-
-
Siomi, H.1
Choi, M.2
Siomi, M.C.3
Nussbaum, R.L.4
Dreyfuss, G.5
|