-
1
-
-
2542507386
-
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
-
5
-
E. G. Allen W. He M. Yadav-Shah S. L. Sherman 2004 A study of the distributional characteristics of FMR1 transcript levels in 238 individuals Hum. Genet. 114 5 439 447
-
(2004)
Hum. Genet.
, vol.114
, pp. 439-447
-
-
Allen, E.G.1
He, W.2
Yadav-Shah, M.3
Sherman, S.L.4
-
3
-
-
0027377580
-
FMR1 protein: Conserved RNP family domains and selective RNA binding
-
5133
-
C. T. Ashley Jr. K. D. Wilkinson D. Reines S. T Warren 1993 FMR1 protein: conserved RNP family domains and selective RNA binding Science 262 5133 563 566
-
(1993)
Science
, vol.262
, pp. 563-566
-
-
Ashley Jr., C.T.1
Wilkinson, K.D.2
Reines, D.3
Warren, S.T.4
-
4
-
-
0027280303
-
Estrogen replacement therapy and cognitive function in older women
-
20
-
E. Barrett-Connor D. Kritz-Silverstein 1993 Estrogen replacement therapy and cognitive function in older women Jama 269 20 2637 2641
-
(1993)
Jama
, vol.269
, pp. 2637-2641
-
-
Barrett-Connor, E.1
Kritz-Silverstein, D.2
-
5
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
13
-
W. T. Brown G. E. Houck Jr. A. Jeziorowska F. N. Levinson X. Ding C. Dobkin 1993 Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test Jama 270 13 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
-
6
-
-
0036846189
-
Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
10
-
J. A. Brunberg S. Jacquemont R. J. Hagerman E. M. Berry-Kravis J. Grigsby M. A. Leehey 2002 Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction AJNR Am. J. Neuroradiol. 23 10 1757 1766
-
(2002)
AJNR Am. J. Neuroradiol.
, vol.23
, pp. 1757-1766
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
Berry-Kravis, E.M.4
Grigsby, J.5
Leehey, M.A.6
-
7
-
-
0035746538
-
FMR1 and the fragile X syndrome: Human genome epidemiology review
-
5
-
D. C. Crawford J. M. Acuna S. L. Sherman 2001 FMR1 and the fragile X syndrome: human genome epidemiology review Genet. Med. 3 5 359 371
-
(2001)
Genet. Med.
, vol.3
, pp. 359-371
-
-
Crawford, D.C.1
Acuna, J.M.2
Sherman, S.L.3
-
8
-
-
0033069502
-
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population
-
2
-
D. C. Crawford K. L. Meadows J. L. Newman L. F. Taft D. L. Pettay L. B. Gold 1999 Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population Am. J. Hum. Genet. 64 2 495 507
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 495-507
-
-
Crawford, D.C.1
Meadows, K.L.2
Newman, J.L.3
Taft, L.F.4
Pettay, D.L.5
Gold, L.B.6
-
10
-
-
0033942734
-
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population
-
2
-
D. C. Crawford C. E. Schwartz K. L. Meadows J. L. Newman L. F. Taft C. Gunter 2000 Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population Am. J. Hum. Genet. 66 2 480 493
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 480-493
-
-
Crawford, D.C.1
Schwartz, C.E.2
Meadows, K.L.3
Newman, J.L.4
Taft, L.F.5
Gunter, C.6
-
14
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
6
-
Y. H. Fu D. P. Kuhl A. Pizzuti M. Pieretti J. S. Sutcliffe S. Richards 1991 Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox Cell 67 6 1047 1058
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
-
15
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Pt 8
-
C. M. Greco R. J. Hagerman F. Tassone A. E. Chudley M. R. Del Bigio S. Jacquemont 2002 Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers Brain 125 Pt 8 1760 1771
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
Chudley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
-
16
-
-
2342635196
-
The fragile-X premutation: A maturing perspective
-
5
-
P. J. Hagerman R. J. Hagerman 2004 The fragile-X premutation: a maturing perspective Am. J. Hum. Genet. 74 5 805 816
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
17
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
1
-
R. J. Hagerman M. Leehey W. Heinrichs F. Tassone R. Wilson J. Hills 2001 Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X Neurology 57 1 127 130
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
-
18
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
-
5
-
P. Jin D. C. Zarnescu F. Zhang C. E. Pearson J. C. Lucchesi K. Moses 2003 RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila Neuron 39 5 739 747
-
(2003)
Neuron
, vol.39
, pp. 739-747
-
-
Jin, P.1
Zarnescu, D.C.2
Zhang, F.3
Pearson, C.E.4
Lucchesi, J.C.5
Moses, K.6
-
20
-
-
0028229333
-
Estrogen use and verbal memory in healthy postmenopausal women
-
6
-
D. L. Kampen B. B. Sherwin 1994 Estrogen use and verbal memory in healthy postmenopausal women Obstet. Gynecol. 83 6 979 983
-
(1994)
Obstet. Gynecol.
, vol.83
, pp. 979-983
-
-
Kampen, D.L.1
Sherwin, B.B.2
-
21
-
-
0033515679
-
Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome
-
4
-
W. E. Kaufmann M. T. Abrams W. Chen A. L. Reiss 1999 Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome Am. J. Med. Genet. 83 4 286 295
-
(1999)
Am. J. Med. Genet.
, vol.83
, pp. 286-295
-
-
Kaufmann, W.E.1
Abrams, M.T.2
Chen, W.3
Reiss, A.L.4
-
22
-
-
0242467602
-
Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X
-
4
-
D. Z. Loesch Q. M. Bui J. Grigsby E. Butler J. Epstein R. M. Huggins 2003a Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X Neuropsychology 17 4 646 657
-
(2003)
Neuropsychology
, vol.17
, pp. 646-657
-
-
Loesch, D.Z.1
Bui, Q.M.2
Grigsby, J.3
Butler, E.4
Epstein, J.5
Huggins, R.M.6
-
23
-
-
0028237294
-
Transmitting males and carrier females in fragile X-revisited
-
4
-
D. Z. Loesch D. A. Hay J. Mulley 1994 Transmitting males and carrier females in fragile X-revisited Am. J. Med. Genet. 51 4 392 399
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 392-399
-
-
Loesch, D.Z.1
Hay, D.A.2
Mulley, J.3
-
24
-
-
0036927063
-
Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis
-
6
-
D. Z. Loesch R. M. Huggins Q. M. Bui J. L. Epstein A. K. Taylor R. J. Hagerman 2002 Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis J. Dev. Behav. Pediatr. 23 6 416 423
-
(2002)
J. Dev. Behav. Pediatr.
, vol.23
, pp. 416-423
-
-
Loesch, D.Z.1
Huggins, R.M.2
Bui, Q.M.3
Epstein, J.L.4
Taylor, A.K.5
Hagerman, R.J.6
-
25
-
-
0038162524
-
Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective
-
(2
-
D. Z. Loesch R. M. Huggins Q. M. Bui A. K. Taylor R. J. Hagerman 2003b Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: a new perspective Am. J. Med. Genet. 118A (2 127 134
-
(2003)
Am. J. Med. Genet.
, vol.118
, pp. 127-134
-
-
Loesch, D.Z.1
Huggins, R.M.2
Bui, Q.M.3
Taylor, A.K.4
Hagerman, R.J.5
-
26
-
-
0041317041
-
Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis
-
(1
-
D. Z. Loesch R. M. Huggins Q. M. Bui A. K. Taylor C. Pratt J. Epstein 2003c Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis Am. J. Med. Genet. 122A (1 13 23
-
(2003)
Am. J. Med. Genet.
, vol.122
, pp. 13-23
-
-
Loesch, D.Z.1
Huggins, R.M.2
Bui, Q.M.3
Taylor, A.K.4
Pratt, C.5
Epstein, J.6
-
27
-
-
0026566684
-
Age related changes in follicle stimulating hormone, luteinizing hormone, oestradiol and immunoreactive inhibin in women of reproductive age
-
4
-
J. MacNaughton M. Banah P. McCloud J. Hee H Burger 1992 Age related changes in follicle stimulating hormone, luteinizing hormone, oestradiol and immunoreactive inhibin in women of reproductive age Clin. Endocrinol. (Oxf) 36 4 339 345
-
(1992)
Clin. Endocrinol. (Oxf)
, vol.36
, pp. 339-345
-
-
MacNaughton, J.1
Banah, M.2
McCloud, P.3
Hee, J.4
Burger, H.5
-
28
-
-
0027674521
-
The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity
-
5
-
M. M. Mazzocco B. F. Pennington R. J. Hagerman 1993 The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity J. Dev. Behav. Pediatr. 14 5 328 335
-
(1993)
J. Dev. Behav. Pediatr.
, vol.14
, pp. 328-335
-
-
Mazzocco, M.M.1
Pennington, B.F.2
Hagerman, R.J.3
-
31
-
-
0029883805
-
Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci
-
15
-
C. E. Pearson R. R. Sinden 1996 Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci Biochemistry 35 15 5041 5053
-
(1996)
Biochemistry
, vol.35
, pp. 5041-5053
-
-
Pearson, C.E.1
Sinden, R.R.2
-
33
-
-
0027482074
-
Neurobehavioral effects of the fragile X premutation in adult women: A controlled study
-
5
-
A. L. Reiss L. Freund M. T. Abrams C. Boehm H. Kazazian 1993 Neurobehavioral effects of the fragile X premutation in adult women: a controlled study Am. J. Hum. Genet. 52 5 884 894
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 884-894
-
-
Reiss, A.L.1
Freund, L.2
Abrams, M.T.3
Boehm, C.4
Kazazian, H.5
-
35
-
-
1942536978
-
The effect of genetic differences and ovarian failure: Intact cognitive function in adult women with premature ovarian failure versus turner syndrome
-
4
-
J. L. Ross G. A. Stefanatos H. Kushner C. Bondy L. Nelson A. Zinn 2004 The effect of genetic differences and ovarian failure: intact cognitive function in adult women with premature ovarian failure versus turner syndrome J. Clin. Endocrinol. Metab. 89 4 1817 1822
-
(2004)
J. Clin. Endocrinol. Metab.
, vol.89
, pp. 1817-1822
-
-
Ross, J.L.1
Stefanatos, G.A.2
Kushner, H.3
Bondy, C.4
Nelson, L.5
Zinn, A.6
-
36
-
-
0034522229
-
Premature ovarian failure in the fragile X syndrome
-
3
-
S. L. Sherman 2000 Premature ovarian failure in the fragile X syndrome Am. J. Med. Genet. 97 3 189 194
-
(2000)
Am. J. Med. Genet.
, vol.97
, pp. 189-194
-
-
Sherman, S.L.1
-
37
-
-
0037397635
-
Estrogen and cognitive functioning in women
-
2
-
B. B. Sherwin 2003 Estrogen and cognitive functioning in women Endocr. Rev. 24 2 133 151
-
(2003)
Endocr. Rev.
, vol.24
, pp. 133-151
-
-
Sherwin, B.B.1
-
38
-
-
0028340191
-
Apparently enhanced visual information processing in female fragile X carriers: Preliminary findings
-
4
-
J. Steyaert M. Borghgraef J. P. Fryns 1994 Apparently enhanced visual information processing in female fragile X carriers: preliminary findings Am. J. Med. Genet. 51 4 374 377
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 374-377
-
-
Steyaert, J.1
Borghgraef, M.2
Fryns, J.P.3
-
39
-
-
0036091566
-
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range
-
6
-
A. K. Sullivan D. C. Crawford E. H. Scott M. L. Leslie S. L. Sherman 2002 Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range Am. J. Hum. Genet. 70 6 1532 1544
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1532-1544
-
-
Sullivan, A.K.1
Crawford, D.C.2
Scott, E.H.3
Leslie, M.L.4
Sherman, S.L.5
-
40
-
-
20544438590
-
Association of FMR1 repeat size with ovarian dysfunction
-
submitted/under revision
-
Sullivan, A. K., Marcus, M., Epstein, M. P., Allen, E. G., Anido, A. E., Brown, J., Edwards, I., Harkreader, K., He, W., Leslie, M. L., Novak, G., Paquin, J. J., Scott, E. H., Shubeck, L. J., Sowemimo, D. J., Taft, L., Yadav-Shah, M., and Sherman, S.L. (2004). Association of FMR1 repeat size with ovarian dysfunction. Human Reproduct.. submitted/under revision
-
(2004)
Human Reproduct
-
-
Sullivan, A.K.1
Marcus, M.2
Epstein, M.P.3
Allen, E.G.4
Anido, A.E.5
Brown, J.6
Edwards, I.7
Harkreader, K.8
He, W.9
Leslie, M.L.10
Novak, G.11
Paquin, J.J.12
Scott, E.H.13
Shubeck, L.J.14
Sowemimo, D.J.15
Taft, L.16
Yadav-Shah, M.17
Sherman, S.L.18
-
41
-
-
0038025990
-
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; Implications for the cerebellar tremor/ataxia syndrome
-
9
-
R. Willemsen M. Hoogeveen-Westerveld S. Reis J. Holstege L. A. Severijnen I. M. Nieuwenhuizen 2003 The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome Hum. Mol. Genet. 12 9 949 959
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 949-959
-
-
Willemsen, R.1
Hoogeveen-Westerveld, M.2
Reis, S.3
Holstege, J.4
Severijnen, L.A.5
Nieuwenhuizen, I.M.6
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