-
1
-
-
84942947953
-
Advances in molecular analysis of Fragile X Syndrome
-
27.
-
Warren. S.T. & Nelson. D.L Advances in molecular analysis of Fragile X Syndrome. JAMA 27. S36-542 (1994).
-
(1994)
JAMA
-
-
Warren, S.T.1
Nelson, D.L.2
-
2
-
-
0028904864
-
Triplet repeat expansion mutations: The example of fragile X syndrome
-
18,77-99
-
Warren, S.T. & Ashley, CT. Triplet repeat expansion mutations: the example of fragile X syndrome. Annu. Rev. Neurose!. 18,77-99 (1995).
-
(1995)
Annu. Rev. Neurose!.
-
-
Warren, S.T.1
Ashley, C.T.2
-
4
-
-
0027525069
-
État Analysis of a CGG sequence at the
-
1 locus in fragile X families and in the general population. Am. 1. Hum. Genet. S3
-
Snow, K. état Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am. 1. Hum. Genet. S3,1217-1228 (1993).
-
(1993)
FMR
, pp. 1217-1228
-
-
Snow, K.1
-
5
-
-
0028360849
-
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
-
77,853-861
-
Kunst, C.B. & Warren, S.T. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77,853-861 (1994).
-
(1994)
Cell
-
-
Kunst, C.B.1
Warren, S.T.2
-
6
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
325,1673-1681
-
Rousseau, F. et aJ. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N. Engl. J. Med. 325,1673-1681 (1991).
-
(1991)
N. Engl. J. Med.
-
-
Rousseau, F.1
-
7
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
1,397-400
-
Sutcliffe. J.S. et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. Mol. Genet. 1,397-400 (1992).
-
(1992)
Hum. Mol. Genet.
-
-
Sutcliffe, J.S.1
-
8
-
-
0025833298
-
Absence of expression of the FMR1 gene in fragile X syndrome
-
66,817-822
-
Pieretti, M. et al. Absence of expression of the FMR1 gene in fragile X syndrome. Ce// 66,817-822(1991).
-
(1991)
Ce
-
-
Pieretti, M.1
-
11
-
-
0026572250
-
Genotype mosaicism in fragile X tissues
-
89,114-116
-
Wôhrle, D. etal. Genotype mosaicism in fragile X tissues. Hum. Genet. 89,114-116 (1992).
-
(1992)
Hum. Genet.
-
-
Wôhrle, D.1
-
12
-
-
0027310525
-
Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion
-
4,140-142
-
Wôhrle, D., Hennig, l, Vogel, W. & Steinbach, P. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nature Genet. 4,140-142 (1993).
-
(1993)
Nature Genet.
-
-
Wôhrle, D.1
Hennig, L.2
Vogel, W.3
Steinbach, P.4
-
13
-
-
85120518377
-
Analysis of full mutation fragile X mutations in f
-
43,208-216
-
Devys, D. et aJ. Analysis of full mutation fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development Am. J. Med. Genet. 43,208-216 (1992).
-
(1992)
Am. J. Med. Genet.
-
-
Devys, D.1
-
14
-
-
0027314736
-
Trinucleotide repeat instability: When and where?
-
4,107-108
-
Nelson, D.L & Warren, S.T. Trinucleotide repeat instability: when and where? Nature Genet 4,107-108 (1993).
-
(1993)
Nature Genet
-
-
Nelson, D.L.1
Warren, S.T.2
-
15
-
-
0028843825
-
Population dynamics of a meiotic/mitotic expansion model for the fragileXsyndrome.Am
-
57,1414-1425
-
Ashley, A. & Sherman. S.L Population dynamics of a meiotic/mitotic expansion model for the fragileXsyndrome.Am./ Hum. Genet. 57,1414-1425(1995).
-
(1995)
Hum. Genet.
-
-
Ashley, A.1
Sherman, S.L.2
-
16
-
-
0028305242
-
No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations. Hum
-
3,927-930
-
Rousseau. F, Roblo, LJ., Rouillard, P. & Der Kaloustain. V.M. No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations. Hum. Mol. Genet 3,927-930 (1994).
-
(1994)
Mol. Genet
-
-
Rousseau, F.1
Roblo, L.J.2
Rouillard, P.3
Der Kaloustain, V.M.4
-
17
-
-
0027363951
-
Gametic but not somatic instability of CAG repeat length in Huntington's disease
-
30,982-986
-
MacDonald, M.E. et aJ. Gametic but not somatic instability of CAG repeat length in Huntington's disease. J. Med. Genet. 30,982-986 (1993).
-
(1993)
J. Med. Genet.
-
-
MacDonald, M.E.1
-
18
-
-
0001662973
-
A quantitative and cytological study of germ cells in human ovaries
-
417
-
Baker, T.G. A quantitative and cytological study of germ cells in human ovaries. Proc. R Soc lone/on B158,417 133 (1963).
-
(1963)
Proc. R Soc Lone/on B
, pp. 133
-
-
Baker, T.G.1
-
19
-
-
0023119242
-
-
99,371-382
-
Monk. M.. Boubelik. M. & Lehnen, S. Temporal and régional changes in DNA methylation in the embryonic, extraembryonic, and germ cell lineages during mouse development. Deve/opment 99,371-382(1987).
-
(1987)
Temporal and régional changes in DNA methylation in the embryonic, extraembryonic, and germ cell lineages during mouse development. Deve/opment
-
-
Monk, M.1
Boubelik, M.2
Lehnen, S.3
-
20
-
-
0025322399
-
Sex difference in methylation of single copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations. Somat
-
16,267-282
-
Driscoll, DJ. & Migeon, B.R. Sex difference in methylation of single copy genes in human meiotic germ cells: implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations. Somat Cell. Mol. Genet 16,267-282 (1990).
-
(1990)
Cell. Mol. Genet
-
-
Driscoll, D.J.1
Migeon, B.R.2
-
21
-
-
0027434212
-
DNA methylation of the fragile X locus in somatic and germ cells during f
-
19,393-404
-
Luo, S., Robinson, J.C. Reiss, A.L & Migeon, B.R. DNA methylation of the fragile X locus in somatic and germ cells during fetal development: relevance to the fragile X syndrome and X inactivation. Somat Cell Mol. Genet. 19,393-404 (1993).
-
(1993)
Cell Mol. Genet.
-
-
Luo, S.1
Robinson, J.C.2
Reiss, A.L.3
Migeon, B.R.4
-
22
-
-
0025905899
-
Programmed demethylation in CpG islands during human fetal development Somat
-
Migeon, B.R., Holland, M.M., Driscoll, DJ. & Robinson, J.C Programmed demethylation in CpG islands during human fetal development Somat Cell Mol. Genet 17,159-168(1991).
-
(1991)
Cell Mol. Genet
, vol.17
, pp. 159-168
-
-
Migeon, B.R.1
Holland, M.M.2
Driscoll, D.J.3
Robinson, J.C.4
-
23
-
-
78651118641
-
A quantitative study of primordial germ cells in the male rat
-
11,715-740
-
Beaumont H.M. & Mandel, A.M. A quantitative study of primordial germ cells in the male rat/ Embryol. Exp. /vtorph.11,715-740 (1963).
-
(1963)
Embryol. Exp. /Vtorph.
-
-
Beaumont, H.M.1
Mandel, A.M.2
-
24
-
-
0027176361
-
The FMR1 protein is cytoplasmic, most abundant in neurons, and appears normal in carriers of the fragile X premutation
-
4
-
Devys, D. et al. The FMR1 protein is cytoplasmic, most abundant in neurons, and appears normal in carriers of the fragile X premutation. Nature Genet. 4, 335-340 (1993).
-
(1993)
Nature Genet.
, pp. 335-340
-
-
Devys, D.1
-
25
-
-
0029063222
-
Characterization of FMR1 proteins isolated from different tissues
-
4,895-901
-
Verheij, C et al. Characterization of FMR1 proteins isolated from different tissues. Hum. Mol. Genet 4,895-901 (1995).
-
(1995)
Hum. Mol. Genet
-
-
Verheij, C.1
-
27
-
-
0029152257
-
Instability of the CGG repeat and expression of the FMR1 protein in a male fragileX patient with a lung tumor. Am
-
57,609-618
-
de Graaff, E. et al. Instability of the CGG repeat and expression of the FMR1 protein in a male fragileX patient with a lung tumor. Am. I. Hum. Genet 57,609-618 (1995).
-
(1995)
I. Hum. Genet
-
-
De Graaff, E.1
-
28
-
-
0027715424
-
Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and female gonad
-
2,2043-2050
-
Bachner, D. et al. Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and female gonad. Hum. Mol. Genet 2,2043-2050 (1993).
-
(1993)
Hum. Mol. Genet
-
-
Bachner, D.1
-
29
-
-
33847478927
-
Primordial germ cells and regulation of meiosis. in Germ ce//s
-
1-16 Cambridge, U.K.
-
Byskov, A.G. Primordial germ cells and regulation of meiosis. in Germ ce//s and Fertilization, (eds. Austin, C R., & Short R. V.) 1-16 (Cambridge, U.K., Cambridge Univ. Press, 1982).
-
(1982)
And Fertilization, Eds. Austin, C R.
-
-
Byskov, A.G.1
Short, R.V.2
Press, C.U.3
-
30
-
-
0028969636
-
The fragile X premutation in carriers and its effect on mutation size in offspring
-
56.1147-1155
-
Fisch, G.S. et al. The fragile X premutation in carriers and its effect on mutation size in offspring. Am. J. Hum. Genet 56.1147-1155 (1995).
-
(1995)
Am. J. Hum. Genet
-
-
Fisch, G.S.1
-
31
-
-
0027023516
-
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
-
2
-
La 5pada, A.R. et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet 2, 301-304(1992).
-
(1992)
Nature Genet
, pp. 301-304
-
-
Lapada, A.R.1
-
32
-
-
0027176364
-
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
-
4,398-403
-
Andrew, S.E. et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet. 4,398-403 (1993).
-
(1993)
Nature Genet.
-
-
Andrew, S.E.1
-
33
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type i
-
5,254-258
-
Chung, M.Y., Ranum, L.P.W., Duvick, LA, Servadio, A. & Zoghbi, H.Y. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet 5,254-258 (1993).
-
(1993)
Nature Genet
-
-
Chung, M.Y.1
Ranum, L.P.W.2
Duvick, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
-
34
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi, Y. etal. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 8,221-228(1994).
-
(1994)
Nature Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
-
35
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian atrophy (DRPLA)
-
6,9-13
-
Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian atrophy (DRPLA). Nature Genet 6,9-13 (1995).
-
(1995)
Nature Genet
-
-
Koide, R.1
-
36
-
-
0025908007
-
On the parental origin of de novo mutation in man
-
28
-
Chandley, A.C On the parental origin of de novo mutation in man./ Med. Genet 28, 217-223(1991).
-
(1991)
Med. Genet
, pp. 217-223
-
-
Chandley, A.C.1
-
37
-
-
0026354010
-
Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation
-
28,830-836
-
Rousseau, F., Heitz, D, Oberle, I. & Mandel, J.L Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J. Med. Genet 28,830-836 (1991 ).
-
(1991)
J. Med. Genet
-
-
Rousseau, F.1
Heitz, D.2
Oberle, I.3
Mandel, J.L.4
-
39
-
-
0026547912
-
Population genetics of the fragile X syndrome: Multiallelic model for the FMR1 locus
-
89,4215-4217
-
Morton, N.E. & MacPherson, J.N. Population genetics of the fragile X syndrome: multiallelic model for the FMR1 locus. Proc. A/atJ. Acad. Sei. USA 89,4215-4217 (1992).
-
(1992)
Proc. A/atJ. Acad. Sei. USA
-
-
Morton, N.E.1
MacPherson, J.N.2
-
40
-
-
0029126403
-
DMA methylation in early development
-
4
-
Razin, A. & Shemer, R. DMA methylation in early development. Hum. Mol. Genet. 4, 1751-1755(1995).
-
(1995)
Hum. Mol. Genet.
, pp. 1751-1755
-
-
Razin, A.1
Shemer, R.2
-
41
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
905
-
Verkerk, AJ.M.H. et aJ. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65,905 914(1991).
-
(1991)
Cell
, pp. 914
-
-
Verkerk, A.J.M.H.1
-
42
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
270,1569-1575
-
Brown, W.T. et aJ. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test JAMA 270,1569-1575 (1993).
-
(1993)
JAMA
-
-
Brown, W.T.1
|