-
1
-
-
0030744335
-
Rett syndrome: A disorder affecting early brain growth
-
Naidu S: Rett syndrome: A disorder affecting early brain growth. Ann Neurol 1997;42:3-10.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 3-10
-
-
Naidu, S.1
-
2
-
-
0035192456
-
Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome
-
van den Veyver IB, Zoghbi HY: Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev 2001;23(Suppl 1):S147-S151.
-
(2001)
Brain Dev.
, vol.23
, Issue.SUPPL. 1
-
-
van den Veyver, I.B.1
Zoghbi, H.Y.2
-
3
-
-
0342437491
-
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
-
Nan X, Campoy FJ, Bird A: MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 1997;88: 471-481.
-
(1997)
Cell
, vol.88
, pp. 471-481
-
-
Nan, X.1
Campoy, F.J.2
Bird, A.3
-
4
-
-
0035169663
-
Methyl-CpG binding proteins: Targeting specific gene repression
-
Ballestar E, Wolfe AP: Methyl-CpG binding proteins: Targeting specific gene repression. Eur J Biochem 2001;268:1-6.
-
(2001)
Eur. J. Biochem.
, vol.268
, pp. 1-6
-
-
Ballestar, E.1
Wolfe, A.P.2
-
5
-
-
0035170550
-
Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex
-
Akbarian S, Chen RZ, Gribnau J, et al: Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex. Neurobiol Dis 2001;8:784-791.
-
(2001)
Neurobiol. Dis.
, vol.8
, pp. 784-791
-
-
Akbarian, S.1
Chen, R.Z.2
Gribnau, J.3
-
6
-
-
0035192518
-
Neurobiology of Rett syndrome: A genetic disorder of synapse development
-
Johnston MV, Jeon OH, Pevsner J, et al: Neurobiology of Rett syndrome: A genetic disorder of synapse development. Brain Dev 2001;23(Suppl 1):S206-S213.
-
(2001)
Brain Dev.
, vol.23
, Issue.SUPPL. 1
-
-
Johnston, M.V.1
Jeon, O.H.2
Pevsner, J.3
-
7
-
-
0037081840
-
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
-
Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY: Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet 2002;11:115-124.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 115-124
-
-
Shahbazian, M.D.1
Antalffy, B.2
Armstrong, D.L.3
Zoghbi, H.Y.4
-
8
-
-
0035880454
-
Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry
-
LaSalle JM, Goldstine J, Balmer D, Greco CM: Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Hum Mol Genet 2001;10:1729-1740.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1729-1740
-
-
LaSalle, J.M.1
Goldstine, J.2
Balmer, D.3
Greco, C.M.4
-
9
-
-
0037439239
-
Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: An immunochemical study of subcellular fractions
-
Aber KM, Nori P, MacDonald S, et al: Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: An immunochemical study of subcellular fractions. Neuroscience 2003;116: 77-80.
-
(2003)
Neuroscience
, vol.116
, pp. 77-80
-
-
Aber, K.M.1
Nori, P.2
MacDonald, S.3
-
10
-
-
0034738070
-
Experience-dependent decrease in synaptically localized Fra-1
-
Paratcha G, Stein ML, Szapiro G, et al: Experience-dependent decrease in synaptically localized Fra-1. Mol Brain Res 2000;70: 120-130.
-
(2000)
Mol. Brain Res.
, vol.70
, pp. 120-130
-
-
Paratcha, G.1
Stein, M.L.2
Szapiro, G.3
-
13
-
-
18044379515
-
Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome
-
Brown V, Jin P, Ceman S, et al: Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell 2001;107:477-487.
-
(2001)
Cell
, vol.107
, pp. 477-487
-
-
Brown, V.1
Jin, P.2
Ceman, S.3
-
14
-
-
0027982527
-
Stabilities of quantitative plasma culture for human immunodeficiency virus, RNA, and p24 antigen from samples collected in Vacutainer CPT and standard Vacutainer tubes
-
Mole L, Margolis D, Carroll R, et al: Stabilities of quantitative plasma culture for human immunodeficiency virus, RNA, and p24 antigen from samples collected in Vacutainer CPT and standard Vacutainer tubes. J Clin Microbiol 1994;32:2212-2215.
-
(1994)
J. Clin. Microbiol.
, vol.32
, pp. 2212-2215
-
-
Mole, L.1
Margolis, D.2
Carroll, R.3
-
15
-
-
0012744395
-
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
-
Lewis JD, Meehan RR, Henzel WJ, et al: Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 1992;105:487-497.
-
(1992)
Cell
, vol.105
, pp. 487-497
-
-
Lewis, J.D.1
Meehan, R.R.2
Henzel, W.J.3
-
16
-
-
0038870851
-
Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III: Its association with synaptic vesicle preparation
-
Huttner WB, Scheibler W, Greengard P, De Camilli P: Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III: Its association with synaptic vesicle preparation. J Cell Biol 1983;96: 1374-1388.
-
(1983)
J. Cell Biol.
, vol.96
, pp. 1374-1388
-
-
Huttner, W.B.1
Scheibler, W.2
Greengard, P.3
De Camilli, P.4
-
17
-
-
0035885312
-
Annexin 1 is abnormally expressed in FRAGILE X syndrome: A two-dimensional electrophoresis study in lymphocytes
-
Sun H-T, Cohen S, Kaufmann WE: Annexin 1 is abnormally expressed in FRAGILE X syndrome: A two-dimensional electrophoresis study in lymphocytes. Am J Med Genet 2001; 103:81-90.
-
(2001)
Am. J. Med. Genet.
, vol.103
, pp. 81-90
-
-
Sun, H.-T.1
Cohen, S.2
Kaufmann, W.E.3
-
18
-
-
0033515679
-
Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome
-
Kaufmann WE, Abrams MT, Chen W, Reiss AL: Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome. Am J Med Genet 1999;83:286-295.
-
(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
-
19
-
-
0035339188
-
MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome
-
Wan M, Zhao K, Lee SS, Francke U: MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. Hum Mol Genet 2001;10:1085-1092.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1085-1092
-
-
Wan, M.1
Zhao, K.2
Lee, S.S.3
Francke, U.4
-
20
-
-
0035198117
-
Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems
-
Kudo S, Nomura Y, Segawa M, et al: Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. Brain Dev 2001;23(Suppl 1):S165-S173.
-
(2001)
Brain Dev.
, vol.23
, Issue.SUPPL. 1
-
-
Kudo, S.1
Nomura, Y.2
Segawa, M.3
-
21
-
-
0033807656
-
Dendritic cytoskeletal protein expression in mental retardation: An immunohistochemical study of the neocortex in Rett syndrome
-
Kaufmann WE, MacDonald SM, Altamura C: Dendritic cytoskeletal protein expression in mental retardation: An immunohistochemical study of the neocortex in Rett syndrome. Cereb Cortex 2000;10:992-1004.
-
(2000)
Cereb. Cortex
, vol.10
, pp. 992-1004
-
-
Kaufmann, W.E.1
MacDonald, S.M.2
Altamura, C.3
-
22
-
-
0036273943
-
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype
-
Hoffbuhr KC, Moses LM, Jerdonek MA, et al: Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev 2002;8:99-105.
-
(2002)
Ment. Retard. Dev. Disabil. Res. Rev.
, vol.8
, pp. 99-105
-
-
Hoffbuhr, K.C.1
Moses, L.M.2
Jerdonek, M.A.3
-
23
-
-
0033452570
-
Choline acetyltransferase: The structure, distribution and pathologic changes in the central nervous system
-
Oda Y: Choline acetyltransferase: The structure, distribution and pathologic changes in the central nervous system. Pathol Int 1999;49:921-937.
-
(1999)
Pathol. Int.
, vol.49
, pp. 921-937
-
-
Oda, Y.1
-
24
-
-
2542433290
-
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations
-
Traynor J, Agarwal P, Lazzeroni L, Francke U: Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC Med Genet 2002;3:12.
-
(2002)
BMC Med. Genet.
, vol.3
, pp. 12
-
-
Traynor, J.1
Agarwal, P.2
Lazzeroni, L.3
Francke, U.4
-
25
-
-
0036626596
-
MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain
-
Balmer D, Arredondo J, Samaco RC, LaSalle JM: MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. Hum Genet 2002;110:545-552.
-
(2002)
Hum. Genet.
, vol.110
, pp. 545-552
-
-
Balmer, D.1
Arredondo, J.2
Samaco, R.C.3
LaSalle, J.M.4
-
26
-
-
0036383067
-
Chromatin remodeling, histone modifications, and DNA methylation - How does it all fit together?
-
Geiman TM, Robertson KD: Chromatin remodeling, histone modifications, and DNA methylation - How does it all fit together? J Cell Biochem 2002;87:117-125.
-
(2002)
J. Cell Biochem.
, vol.87
, pp. 117-125
-
-
Geiman, T.M.1
Robertson, K.D.2
-
27
-
-
0035072804
-
Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations
-
Shahbazian MD, Zoghbi HY: Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol 2001;14:171-176.
-
(2001)
Curr. Opin. Neurol.
, vol.14
, pp. 171-176
-
-
Shahbazian, M.D.1
Zoghbi, H.Y.2
-
28
-
-
0037824702
-
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
-
Weaving LS, Williamson SL, Bennetts B, et al: Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet 2003;118A:103-114.
-
(2003)
Am. J. Med. Genet.
, vol.118 A
, pp. 103-114
-
-
Weaving, L.S.1
Williamson, S.L.2
Bennetts, B.3
-
29
-
-
0012690029
-
Cortical development in Rett syndrome: Molecular, neurochemical, and anatomical aspects
-
Kerr A, Engerström IW (eds): Oxford, UK, Oxford University Press
-
Kaufmann WE: Cortical development in Rett syndrome: Molecular, neurochemical, and anatomical aspects, in Kerr A, Engerström IW (eds): The Rett Disorder and the Developing Brain. Oxford, UK, Oxford University Press, 2001, 85-110.
-
(2001)
The Rett Disorder and the Developing Brain
, pp. 85-110
-
-
Kaufmann, W.E.1
|