-
2
-
-
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, A.J.M.H., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P.A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F., Eussen, B.E., van Ommen, G.J.B., Blonden, L.A.J., Riggins, G.J., Chastain, J.L., Kunst, C.B., Galjaard, H., Caskey, C.T., Nelson, D.L., Oostra, B.A. and Warren, S.T. (1991) 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)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, D.P.A.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.10
Eussen, B.E.11
Van Ommen, G.J.B.12
Blonden, L.A.J.13
Riggins, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Galjaard, H.17
Caskey, C.T.18
Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
more..
-
3
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu, Y.H., Kuhl, D.P.A., Pizzuti, A., Pieretti, M., Sutcliffe, J.S., Richards, S., Verkerk, A.J.M.H., Holden, J.J.A., Fenwick, R.G., Warren, S.T., Oostra, B.A., Nelson, D.L. and Caskey, C.T. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell, 67, 1047-1058
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.A.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.M.H.7
Holden, J.J.A.8
Fenwick, R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
4
-
-
0027434212
-
DNA methylation of the fragile X locus in somatic and germ cells during fetal development: Relevance to the fragile X syndrome and X inactivation
-
Luo, S., Robinson, J.C., Reiss, A.L. and Migeon, B.R. (1993) 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)
Somat. Cell. Mol. Genet.
, vol.19
, pp. 393-404
-
-
Luo, S.1
Robinson, J.C.2
Reiss, A.L.3
Migeon, B.R.4
-
5
-
-
0026951222
-
Methylation analysis of CGG sites in the CpG island of the human FMR1 gene
-
Hansen, R.S., Gartler, S.M., Scott, C.R., Chen, S.H. and Laird, C.D. (1992) Methylation analysis of CGG sites in the CpG island of the human FMR1 gene. Hum. Mol. Genet., 1, 571-578.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 571-578
-
-
Hansen, R.S.1
Gartler, S.M.2
Scott, C.R.3
Chen, S.H.4
Laird, C.D.5
-
6
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti, M., Zhang, F., Fu, Y.H., Warren, S.T., Oostra, B.A., Caskey, C.T. and Nelson, D.L. (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66, 817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
7
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
Sutcliffe, J.S., Nelson, D.L., Zhang, F., Pieretti, M., Caskey, C.T., Saxe, D. and Warren, S.T. (1992) DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. Mol. Genet., 1, 397-400.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 397-400
-
-
Sutcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
Pieretti, M.4
Caskey, C.T.5
Saxe, D.6
Warren, S.T.7
-
8
-
-
0027236971
-
Characterization and localization of the FMR1 gene product associated with fragile X syndrome
-
Verheij, C., Bakker, C.E., de Graaff, E., Keulemans, J., Willemsen, R., Verkerk, A.J., Galjaard, H., Reuser, A.J., Hoogeveen, A.T. and Oostra. B.A. (1993) Characterization and localization of the FMR1 gene product associated with fragile X syndrome. Nature, 363, 722-724.
-
(1993)
Nature
, vol.363
, pp. 722-724
-
-
Verheij, C.1
Bakker, C.E.2
De Graaff, E.3
Keulemans, J.4
Willemsen, R.5
Verkerk, A.J.6
Galjaard, H.7
Reuser, A.J.8
Hoogeveen, A.T.9
Oostra, B.A.10
-
9
-
-
0027324679
-
In vitro DNA methylation inhibits FMR1 promoter
-
Hwu, W.L., Lee, Y.M., Lee, S.C. and Wang, T.R. (1993) In vitro DNA methylation inhibits FMR1 promoter. Biochem. Biophys Res. Commun., 193, 324-329.
-
(1993)
Biochem. Biophys Res. Commun.
, vol.193
, pp. 324-329
-
-
Hwu, W.L.1
Lee, Y.M.2
Lee, S.C.3
Wang, T.R.4
-
10
-
-
0030748045
-
Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression
-
Sandberg, G. and Schalling, M. (1997) Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression. Nucleic Acids Res., 25, 2883-2887.
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 2883-2887
-
-
Sandberg, G.1
Schalling, M.2
-
11
-
-
0028857169
-
Normal phenotype in two brothers with a full FMR1 mutation
-
Smeets, H.J.M., Smits, A.P.T., Verheij, C.E., Theelen, J.P.G., Willemsen, R., van de Burgt, I., Hoogeveen, A.T., Oosterwijk, J.C. and Oostra, B.A. (1995) Normal phenotype in two brothers with a full FMR1 mutation. Hum. Mol. Genet., 4, 2103-2108.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2103-2108
-
-
Smeets, H.J.M.1
Smits, A.P.T.2
Verheij, C.E.3
Theelen, J.P.G.4
Willemsen, R.5
Van De Burgt, I.6
Hoogeveen, A.T.7
Oosterwijk, J.C.8
Oostra, B.A.9
-
12
-
-
16944366733
-
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family
-
de Vries, B.B.A., Jansen, C.C.A.M., Duits, A.A., Verheij, C., Willemsen, R., van Hemel, J.O., van den Ouweland, A.M.W., Niermeijer, M.F., Oostra, B.A. and Halley, D.J.J. (1996) Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. J. Med. Genet., 33, 1007-1010.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 1007-1010
-
-
De Vries, B.B.A.1
Jansen, C.C.A.M.2
Duits, A.A.3
Verheij, C.4
Willemsen, R.5
Van Hemel, J.O.6
Van Den Ouweland, A.M.W.7
Niermeijer, M.F.8
Oostra, B.A.9
Halley, D.J.J.10
-
13
-
-
0029921704
-
FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male
-
Wang, Z., Taylor, A.K. and Bridge, J.A. (1996) FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male. J. Med. Genet., 33, 376-378.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 376-378
-
-
Wang, Z.1
Taylor, A.K.2
Bridge, J.A.3
-
14
-
-
0028264043
-
High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR1 mutation associated with protein expression
-
Hagerman, R.J., Hull, C.E., Safanda, J.F., Carpenter, I., Staley, L.W., O'Connor, R.A., Seydel, C., Mazzocco, M.M., Snow, K., Thibodeau, S.N., Kuhl, D., Nelson, D.L., Caskey, C.T. and Taylor, A.K. (1994) High functioning fragile X males: demonstration of an unmethylated fully expanded FMR1 mutation associated with protein expression. Am. J Med. Genet., 51, 298-308.
-
(1994)
Am. J Med. Genet.
, vol.51
, pp. 298-308
-
-
Hagerman, R.J.1
Hull, C.E.2
Safanda, J.F.3
Carpenter, I.4
Staley, L.W.5
O'Connor, R.A.6
Seydel, C.7
Mazzocco, M.M.8
Snow, K.9
Thibodeau, S.N.10
Kuhl, D.11
Nelson, D.L.12
Caskey, C.T.13
Taylor, A.K.14
-
15
-
-
0027486670
-
Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of fragile X syndrome
-
McConkie-Rossell, A., Lachiewicz, A.M., Spiridigliozzi, G.A., Tarleton, J., Schoenwald, S., Phelan, M.C., Goonewardena, P., Ding, X. and Brown, W.T. (1993) Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of fragile X syndrome. Am. J. Hum. Genet., 53, 800-809.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 800-809
-
-
McConkie-Rossell, A.1
Lachiewicz, A.M.2
Spiridigliozzi, G.A.3
Tarleton, J.4
Schoenwald, S.5
Phelan, M.C.6
Goonewardena, P.7
Ding, X.8
Brown, W.T.9
-
16
-
-
0028305242
-
No mental retardation in a man with 40% abnormal methylation at the FMR1 locus and transmission of sperm cell mutations as premutations
-
Rousseau, F., Robb, L.J., Rouillard, P. and Der Kaloustian, V.M. (1994) No mental retardation in a man with 40% abnormal methylation at the FMR1 locus and transmission of sperm cell mutations as premutations. Hum. Mol. Genet., 3, 927-930.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 927-930
-
-
Rousseau, F.1
Robb, L.J.2
Rouillard, P.3
Der Kaloustian, V.M.4
-
17
-
-
0027361706
-
Genotype-phenotype relationships in fragile X syndrome: A family study
-
Loesch, D.Z., Muggins, R., Hay, D.A., Gedeon, A.K., Mulley, J.C., Sutherland, G.R. (1993) Genotype-phenotype relationships in fragile X syndrome: a family study. Am. J. Hum. Genet., 53, 1064-1073.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 1064-1073
-
-
Loesch, D.Z.1
Muggins, R.2
Hay, D.A.3
Gedeon, A.K.4
Mulley, J.C.5
Sutherland, G.R.6
-
18
-
-
0029152257
-
Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor
-
de Graaff, E., Willemsen, R., Zhong, N., de Die-Smulders, C.E.M., Brown, W.T., Freling, G. and Oostra, B. (1995) Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. Am. J. Hum. Genet., 57, 609-618.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 609-618
-
-
De Graaff, E.1
Willemsen, R.2
Zhong, N.3
De Die-Smulders, C.E.M.4
Brown, W.T.5
Freling, G.6
Oostra, B.7
-
19
-
-
0026706866
-
Hemimethylation and hypersensitivity are early events in transcriptional reactivation of human inactive X-linked genes in a hamster x human somatic cell hybrid
-
Sasaki, T., Hansen, R.S. and Gartler, S.M. (1992) Hemimethylation and hypersensitivity are early events in transcriptional reactivation of human inactive X-linked genes in a hamster x human somatic cell hybrid. Mol. Cell. Biol., 12, 3819-3826.
-
(1992)
Mol. Cell. Biol.
, vol.12
, pp. 3819-3826
-
-
Sasaki, T.1
Hansen, R.S.2
Gartler, S.M.3
-
20
-
-
0025360755
-
5-Azacytidine induced reactivation of the human X chromosome-linked PGK1 gene is associated with a large region of cytosine demethylation in the 5′ CpG island
-
Hansen, R.S. and Gartler, S.M. (1990) 5-Azacytidine induced reactivation of the human X chromosome-linked PGK1 gene is associated with a large region of cytosine demethylation in the 5′ CpG island. Proc. Natl Acad. Sci. USA, 87, 4171-4178.
-
(1990)
Proc. Natl Acad. Sci. USA
, vol.87
, pp. 4171-4178
-
-
Hansen, R.S.1
Gartler, S.M.2
-
21
-
-
0029790321
-
Role of late replication timing in the silencing of X-linked genes
-
Hansen, R.S., Canfield, T.K., Fjeld, A.D. and Gartler, S.M. (1996) Role of late replication timing in the silencing of X-linked genes. Hum. Mol. Genet., 5, 1345-1353.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1345-1353
-
-
Hansen, R.S.1
Canfield, T.K.2
Fjeld, A.D.3
Gartler, S.M.4
-
22
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng, Y., Zhang, F., Lokey, L.K., Chastain, J.L., Lakkis, L., Eberhart, D. and Warren, S.T. (1995) Translational suppression by trinucleotide repeat expansion at FMR1. Science, 268, 731-734.
-
(1995)
Science
, vol.268
, pp. 731-734
-
-
Feng, Y.1
Zhang, F.2
Lokey, L.K.3
Chastain, J.L.4
Lakkis, L.5
Eberhart, D.6
Warren, S.T.7
-
23
-
-
0027274649
-
Treatment with azacitidine of patients with end stage β-thalassemia
-
Lowrey, C.H. and Nienhuis, A.W. (1993) Treatment with azacitidine of patients with end stage β-thalassemia. New Engl. J. Med., 329, 845-848.
-
(1993)
New Engl. J. Med.
, vol.329
, pp. 845-848
-
-
Lowrey, C.H.1
Nienhuis, A.W.2
-
24
-
-
0022553788
-
A routine method for the establishment of permanent growing lymphoblastoid cell lines
-
Neitzel H. (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum. Genet., 73, 320-326.
-
(1986)
Hum. Genet.
, vol.73
, pp. 320-326
-
-
Neitzel, H.1
-
25
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomczynski P. and Sacchi N. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem., 162, 156-159.
-
(1987)
Anal. Biochem.
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
26
-
-
0024791277
-
An efficient salt-chloroform extraction of DNA from blood and tissues
-
Muellenbach, R., Lagoda, P.J.L. and Welter, C. (1989) An efficient salt-chloroform extraction of DNA from blood and tissues. Trends Genet., 5, 391.
-
(1989)
Trends Genet.
, vol.5
, pp. 391
-
-
Muellenbach, R.1
Lagoda, P.J.L.2
Welter, C.3
-
27
-
-
0025866603
-
Molecular heterogeneity of the fragile X syndrome
-
Nakahori, Y., Knight, S.J., Holland, J., Schwartz, C., Roche, A., Tarleton, J., Wong, S., Flint, T.J., Froster-Iskenius, U., Bentley, D., Davies, K.E. and Hirst, M.C. (1991) Molecular heterogeneity of the fragile X syndrome. Nucleic Acids Res., 19, 4355-4359.
-
(1991)
Nucleic Acids Res.
, vol.19
, pp. 4355-4359
-
-
Nakahori, Y.1
Knight, S.J.2
Holland, J.3
Schwartz, C.4
Roche, A.5
Tarleton, J.6
Wong, S.7
Flint, T.J.8
Froster-Iskenius, U.9
Bentley, D.10
Davies, K.E.11
Hirst, M.C.12
-
28
-
-
0029028295
-
Rapid antibody test for fragile X syndrome
-
Willemsen, R., Mohkamsing, S., de Vries, B., Devys, D., van den Ouweland, A., Mandel, J.L., Galjaard, H. and Oostra, B.A. (1995) Rapid antibody test for fragile X syndrome. Lancet, 345, 1147-1148.
-
(1995)
Lancet
, vol.345
, pp. 1147-1148
-
-
Willemsen, R.1
Mohkamsing, S.2
De Vries, B.3
Devys, D.4
Van Den Ouweland, A.5
Mandel, J.L.6
Galjaard, H.7
Oostra, B.A.8
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