-
1
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat co-incident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk AJMH, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat co-incident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
-
2
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M, Zhang F, Fu Y-H, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991;66:817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.2
Fu, Y.-H.3
-
3
-
-
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, et al. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993;4:335-340.
-
(1993)
Nat Genet
, vol.4
, pp. 335-340
-
-
Devys, D.1
Lutz, Y.2
Rouyer, N.3
-
4
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability and resolution of the Sherman paradox
-
Fu Y-H, Kohl DPA, Pizzuit A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability and resolution of the Sherman paradox. Cell 1991;67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.-H.1
Kohl, D.P.A.2
Pizzuit, A.3
-
5
-
-
0001966753
-
Physical and behavioral phenotype
-
Hagerman RJ, Cronister A, eds. Baltimore: Johns Hopkins University Press
-
Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Cronister A, 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
-
6
-
-
0032696337
-
Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females
-
Franke P, Leboyer M, Hardt J, et al. Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females. Psychiatry Res 1999;87:223-231.
-
(1999)
Psychiatry Res
, vol.87
, pp. 223-231
-
-
Franke, P.1
Leboyer, M.2
Hardt, J.3
-
7
-
-
0034016083
-
Clinical involvement and protein expression in individuals with the FMR1 premutation
-
Tassone F, Hagerman RJ, Taylor AK, et al. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 2000;91:144-152.
-
(2000)
Am J Med Genet
, vol.91
, pp. 144-152
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
-
8
-
-
0029899583
-
Fragile X carrier females: Evidence for a distinct psychopadiological phenotype
-
Franke P, Maier W, Hautzinger M, et al. Fragile X carrier females: evidence for a distinct psychopadiological phenotype. Am J Med Genet 1996;64:334-339.
-
(1996)
Am J Med Genet
, vol.64
, pp. 334-339
-
-
Franke, P.1
Maier, W.2
Hautzinger, M.3
-
10
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001;57:127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
-
11
-
-
0038754166
-
Tremor and limb ataxia in fragile X premutation carriers: Blinded videotape evaluation
-
Berry-Kravis E, Lewin F, Wuu J, et al. Tremor and limb ataxia in fragile X premutation carriers: blinded videotape evaluation. Ann Neurol 2003;53:616-623.
-
(2003)
Ann Neurol
, vol.53
, pp. 616-623
-
-
Berry-Kravis, E.1
Lewin, F.2
Wuu, J.3
-
12
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003;72:869-878.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
-
13
-
-
9144252520
-
Penetrance of die fragile X-associated tremor/ataxia syndrome (FXTAS) in a permutation carrier population: Initial results from die California-based study
-
Jacquemont S, Hagerman RJ, Leehey M, et al. Penetrance of die fragile X-associated tremor/ataxia syndrome (FXTAS) in a permutation carrier population: initial results from die California-based study. JAMA 2004;291:460-469.
-
(2004)
JAMA
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
-
14
-
-
0036846189
-
Fragile X premutation carriers: Characteristic MR imaging findings in adult males widi progressive cerebellar and cognitive dysfunction
-
Brunberg JA, Jacquemont S, Hagerman RJ, et al. Fragile X premutation carriers: characteristic MR imaging findings in adult males widi progressive cerebellar and cognitive dysfunction. Am J Neuroradiol 2002;23:1757-1766.
-
(2002)
Am J Neuroradiol
, vol.23
, pp. 1757-1766
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
-
15
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco C, Hagerman RJ, Tassone F, et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002;125:1760-1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.1
Hagerman, R.J.2
Tassone, F.3
-
16
-
-
2342453253
-
Fragile X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 mutation
-
Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 mutation. Am J Hum Genet 2004;74:1051-1056.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.J.1
Leavitt, B.R.2
Farzin, F.3
-
17
-
-
0028245479
-
Improved sizing of fragile X CCG repeats by nested polymerase chain reaction
-
Levinson G, Maddalena A, Palmer FT, et al. Improved sizing of fragile X CCG repeats by nested polymerase chain reaction. Am J Med Genet 1994;51:527-534.
-
(1994)
Am J Med Genet
, vol.51
, pp. 527-534
-
-
Levinson, G.1
Maddalena, A.2
Palmer, F.T.3
-
18
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991;325:1673-1681.
-
(1991)
N Engl J Med
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
-
19
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
-
Jin P, Zarnescu D, Zhang F, et al. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 2003;39:739-747.
-
(2003)
Neuron
, vol.39
, pp. 739-747
-
-
Jin, P.1
Zarnescu, D.2
Zhang, F.3
-
20
-
-
0028799833
-
Prevalence of carriers of premutation-size alleles of the FMR1 gene, and implications for the population genetics of the fragile X syndrome
-
Rousseau F, Rouillard P, Morel ML, et al. Prevalence of carriers of premutation-size alleles of the FMR1 gene, and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995;57:1006-1018.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1006-1018
-
-
Rousseau, F.1
Rouillard, P.2
Morel, M.L.3
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