-
1
-
-
0020507697
-
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
-
Hagberg, B., Aicardi, J., Dias, K. and Ramos, O. (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann. Neurol. 14, 471-479.
-
(1983)
Ann. Neurol.
, vol.14
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
Ramos, O.4
-
2
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q., Francke, U. and Zoghbi, H.Y. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23, 185-188.
-
(1999)
Nat. Genet.
, vol.23
, pp. 185-188
-
-
Amir, R.E.1
Van den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
3
-
-
17444440488
-
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
-
Amir, R.E., Van den Veyver, I.B., Schultz, R., Malicki, D.M., Tran, C.Q., Dahle, E.J., Philippi, A., Timar, L., Percy, A.K., Motil, K.J. et al. (2000) Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann. Neurol., 47, 670-679.
-
(2000)
Ann. Neurol.
, vol.47
, pp. 670-679
-
-
Amir, R.E.1
Van den Veyver, I.B.2
Schultz, R.3
Malicki, D.M.4
Tran, C.Q.5
Dahle, E.J.6
Philippi, A.7
Timar, L.8
Percy, A.K.9
Motil, K.J.10
-
4
-
-
0034701999
-
MECP2 mutations account for most cases of typical forms of Rett syndrome
-
Bienvenu, T., Carrie, A., de Roux, N., Vinet, M.C., Jonveaux, P., Couvert, P., Villard, L., Arzimanoglou, A., Beldjord, C., Fontes, M. et al. (2000) MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum. Mol. Genet., 9, 1377-1384.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1377-1384
-
-
Bienvenu, T.1
Carrie, A.2
de Roux, N.3
Vinet, M.C.4
Jonveaux, P.5
Couvert, P.6
Villard, L.7
Arzimanoglou, A.8
Beldjord, C.9
Fontes, M.10
-
5
-
-
0035853013
-
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
-
Auranen, M., Vanhala, R., Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L. and Jarvela, I. (2001) MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology, 56, 611-617.
-
(2001)
Neurology
, vol.56
, pp. 611-617
-
-
Auranen, M.1
Vanhala, R.2
Vosman, M.3
Levander, M.4
Varilo, T.5
Hietala, M.6
Riikonen, R.7
Peltonen, L.8
Jarvela, I.9
-
6
-
-
0035129277
-
A detailed analysis of the MECP2 gene: Prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
-
Bourdon, V., Philippe, C., Labrune, O., Amsallem, D., Arnould, C. and Jonveaux, P. (2001) A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum. Genet., 108, 43-50.
-
(2001)
Hum. Genet.
, vol.108
, pp. 43-50
-
-
Bourdon, V.1
Philippe, C.2
Labrune, O.3
Amsallem, D.4
Arnould, C.5
Jonveaux, P.6
-
7
-
-
0042893900
-
Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings
-
Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C. and Fryns, J.P. (2003) Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. Am. J. Med. Genet., 122A, 227-233.
-
(2003)
Am. J. Med. Genet.
, vol.122 A
, pp. 227-233
-
-
Smeets, E.1
Schollen, E.2
Moog, U.3
Matthijs, G.4
Herbergs, J.5
Smeets, H.6
Curfs, L.7
Schrander-Stumpel, C.8
Fryns, J.P.9
-
8
-
-
0036273943
-
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype
-
Hoffbuhr, K.C., Moses, L.M., Jerdonek, M.A., Naidu, S. and Hoffman, E.P. (2002) Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment. Retard. Dev. Disabil. Res. Rev., 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
Naidu, S.4
Hoffman, E.P.5
-
9
-
-
1542514789
-
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome
-
Laccone, F., Junemann, I., Whatley, S., Morgan, R., Butler, R., Huppke, P. and Ravine, D. (2004) Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum. Mutat., 23, 234-244.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 234-244
-
-
Laccone, F.1
Junemann, I.2
Whatley, S.3
Morgan, R.4
Butler, R.5
Huppke, P.6
Ravine, D.7
-
10
-
-
0033913202
-
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
-
Amano K., Nomura, Y., Segawa, M. and Yamakawa, K. (2000) Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. J. Hum. Genet., 45, 231-236.
-
(2000)
J. Hum. Genet.
, vol.45
, pp. 231-236
-
-
Amano, K.1
Nomura, Y.2
Segawa, M.3
Yamakawa, K.4
-
11
-
-
0042905824
-
Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome
-
Schollen, E., Smeets, E., Defiem, E., Fryns, J.P. and Matthijs, G. (2003) Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. Hum. Mutat., 22, 116-120.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 116-120
-
-
Schollen, E.1
Smeets, E.2
Defiem, E.3
Fryns, J.P.4
Matthijs, G.5
-
12
-
-
0034327571
-
Functional consequences of Rett syndrome mutations on human MeCP2
-
Yusufzai, T.M. and Wolffe, A.P. (2000) Functional consequences of Rett syndrome mutations on human MeCP2. Nucl. Acids Res., 28, 4172-4179.
-
(2000)
Nucl. Acids Res.
, vol.28
, pp. 4172-4179
-
-
Yusufzai, T.M.1
Wolffe, A.P.2
-
13
-
-
0034691236
-
Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA
-
Ballestar, E., Yusufzai, T.M. and Wolffe, A.P. (2000) Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. Biochemistry, 39, 7100-7106.
-
(2000)
Biochemistry
, vol.39
, pp. 7100-7106
-
-
Ballestar, E.1
Yusufzai, T.M.2
Wolffe, A.P.3
-
14
-
-
0035870846
-
MECP2 is highly mutated in X-linked mental retardation
-
Couvert, P., Bienvenu, T., Aquaviva, C., Poirier, K., Moraine, C., Gendrot, C., Verloes, A., Andres, C., Le Fevre, A.C., Souville, I. et al. (2001) MECP2 is highly mutated in X-linked mental retardation. Hum. Mol. Genet., 10, 941-946.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 941-946
-
-
Couvert, P.1
Bienvenu, T.2
Aquaviva, C.3
Poirier, K.4
Moraine, C.5
Gendrot, C.6
Verloes, A.7
Andres, C.8
Le Fevre, A.C.9
Souville, I.10
-
15
-
-
0038626842
-
Identification of MeCP2 mutations in a series of females with autistic disorder
-
Carney, R.M., Wolpert, C.M., Ravan, S.A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M.L., Vance, J.M. and Pericak-Vance, M.A. (2003) Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr. Neurol., 28, 205-211.
-
(2003)
Pediatr. Neurol.
, vol.28
, pp. 205-211
-
-
Carney, R.M.1
Wolpert, C.M.2
Ravan, S.A.3
Shahbazian, M.4
Ashley-Koch, A.5
Cuccaro, M.L.6
Vance, J.M.7
Pericak-Vance, M.A.8
-
16
-
-
0033365401
-
Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
-
Wan, M., Lee, S.S., Zhang, X., Houwink-Manville, I., Song, H.R., Amir, R.E., Budden, S., Naidu, S., Pereira, J.L., Lo, I.F. et al. (1999) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am. J. Hum. Genet., 65 1520-1529.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1520-1529
-
-
Wan, M.1
Lee, S.S.2
Zhang, X.3
Houwink-Manville, I.4
Song, H.R.5
Amir, R.E.6
Budden, S.7
Naidu, S.8
Pereira, J.L.9
Lo, I.F.10
-
17
-
-
0033804436
-
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
-
Meloni, I., Bruttini, M., Longo, I., Mari, F., Rizzolio, F., D'Adamo, P., Denvriendt, K., Fryns, J.P., Toniolo, D. and Remeri, A. (2000) A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am. J. Hum. Genet., 67, 982-985.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 982-985
-
-
Meloni, I.1
Bruttini, M.2
Longo, I.3
Mari, F.4
Rizzolio, F.5
D'Adamo, P.6
Denvriendt, K.7
Fryns, J.P.8
Toniolo, D.9
Remeri, A.10
-
18
-
-
0036557829
-
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia
-
Kleefstra, T., Yntema, H.G., Oudakker, A.R., Romein, T., Sistermans, E., Nillessen, W., van Bokhoven, H., de Vries, B.B. and Hamel, B.C. (2002) De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Clin. Genet. 61, 359-362.
-
(2002)
Clin. Genet.
, vol.61
, pp. 359-362
-
-
Kleefstra, T.1
Yntema, H.G.2
Oudakker, A.R.3
Romein, T.4
Sistermans, E.5
Nillessen, W.6
van Bokhoven, H.7
de Vries, B.B.8
Hamel, B.C.9
-
19
-
-
0036371289
-
MECP2 mutation in a boy with language disorder and schizophrenia
-
Cohen, D., Lazar, G., Convert, P., Desportes, V., Lippe, D., Mazet, P. and Heron, D. (2002) MECP2 mutation in a boy with language disorder and schizophrenia. Am. J. Psychiatr., 159, 148-149.
-
(2002)
Am. J. Psychiatr.
, vol.159
, pp. 148-149
-
-
Cohen, D.1
Lazar, G.2
Convert, P.3
Desportes, V.4
Lippe, D.5
Mazet, P.6
Heron, D.7
-
20
-
-
8444241560
-
DNA recognition by the methyl-CpG binding domain of MeCP2
-
Free, A., Wakefield, R.I., Smith, B.O., Dryden, D.T., Barlow, P.N. and Bird, A.P. (2000) DNA recognition by the methyl-CpG binding domain of MeCP2. J. Biol. Chem., 16, 16.
-
(2000)
J. Biol. Chem.
, vol.16
, pp. 16
-
-
Free, A.1
Wakefield, R.I.2
Smith, B.O.3
Dryden, D.T.4
Barlow, P.N.5
Bird, A.P.6
-
21
-
-
0032574977
-
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
-
Nan, X., Ng, H.H., Johnson, C.A., Laherty, C.D., Turner, B.M., Eisenman, R.N. and Bird, A. (1998) Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature, 393, 386-389.
-
(1998)
Nature
, vol.393
, pp. 386-389
-
-
Nan, X.1
Ng, H.H.2
Johnson, C.A.3
Laherty, C.D.4
Turner, B.M.5
Eisenman, R.N.6
Bird, A.7
-
22
-
-
0031837109
-
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
-
Jones, P.L., Veenstra, G.J., Wade, P.A., Vermaak, D., Kass, S.U., Landsberger, N., Strouboulis, J. and Wolffe, A.P. (1998) Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat. Genet., 19, 187-191.
-
(1998)
Nat. Genet.
, vol.19
, pp. 187-191
-
-
Jones, P.L.1
Veenstra, G.J.2
Wade, P.A.3
Vermaak, D.4
Kass, S.U.5
Landsberger, N.6
Strouboulis, J.7
Wolffe, A.P.8
-
23
-
-
0035094767
-
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
-
Guy, J., Hendrich, B., Holmes, M., Martin, J.E. and Bird, A. (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat. Genet., 27, 322-326.
-
(2001)
Nat. Genet.
, vol.27
, pp. 322-326
-
-
Guy, J.1
Hendrich, B.2
Holmes, M.3
Martin, J.E.4
Bird, A.5
-
24
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
Chen, R.Z., Akbarian, S., Tudor, M. and Jaenisch, R. (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat. Genet., 27, 327-331.
-
(2001)
Nat. Genet.
, vol.27
, pp. 327-331
-
-
Chen, R.Z.1
Akbarian, S.2
Tudor, M.3
Jaenisch, R.4
-
25
-
-
0037130455
-
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
-
Shahbazian, M., Young, J., Yuva-Paylor, L., Spencer, C., Antalffy, B., Noebels, J., Armstrong, D., Paylor, R. and Zoghbi, H. (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron, 35, 243-254.
-
(2002)
Neuron
, vol.35
, pp. 243-254
-
-
Shahbazian, M.1
Young, J.2
Yuva-Paylor, L.3
Spencer, C.4
Antalffy, B.5
Noebels, J.6
Armstrong, D.7
Paylor, R.8
Zoghbi, H.9
-
26
-
-
0342437491
-
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
-
Nan, X., Campoy, F.J. and Bird, A. (1997) MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell, 88, 471-481.
-
(1997)
Cell
, vol.88
, pp. 471-481
-
-
Nan, X.1
Campoy, F.J.2
Bird, A.3
-
27
-
-
0037086656
-
In vivo repression of an erythroid-specific gene by distinct corepressor complexes
-
Rietveld, L.E., Caldenhoven, E. and Stunnenberg, H.G. (2002) In vivo repression of an erythroid-specific gene by distinct corepressor complexes. EMBO J., 21, 1389-1397.
-
(2002)
EMBO J.
, vol.21
, pp. 1389-1397
-
-
Rietveld, L.E.1
Caldenhoven, E.2
Stunnenberg, H.G.3
-
28
-
-
0242332183
-
Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2
-
Chen, W.G., Chang, Q., Lin, Y., Meissner, A., West, A.E., Griffith, E.C., Jaenisch, R. and Greenberg, M.E. (2003) Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science, 302, 885-889.
-
(2003)
Science
, vol.302
, pp. 885-889
-
-
Chen, W.G.1
Chang, Q.2
Lin, Y.3
Meissner, A.4
West, A.E.5
Griffith, E.C.6
Jaenisch, R.7
Greenberg, M.E.8
-
29
-
-
0036182132
-
Precipitous release of methyl-CpG binding protein 2 and histone deacetylase 1 from the methylated human multidrug resistance gene (MDR1) on activation
-
El-Osta, A., Kantharidis, P., Zalcberg, J.R. and Wolffe, A.P. (2002) Precipitous release of methyl-CpG binding protein 2 and histone deacetylase 1 from the methylated human multidrug resistance gene (MDR1) on activation. Mol. Cell. Biol., 22, 1844-1857.
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 1844-1857
-
-
El-Osta, A.1
Kantharidis, P.2
Zalcberg, J.R.3
Wolffe, A.P.4
-
30
-
-
0037439798
-
Methyl-CpG-binding domain protein-2 mediates transcriptional repression associated with hypermethylated GSTP1 CpG islands in MCF-7 breast cancer cells
-
Lin, X. and Nelson, W.G. (2003) Methyl-CpG-binding domain protein-2 mediates transcriptional repression associated with hypermethylated GSTP1 CpG islands in MCF-7 breast cancer cells. Cancer Res., 63, 498-504.
-
(2003)
Cancer Res.
, vol.63
, pp. 498-504
-
-
Lin, X.1
Nelson, W.G.2
-
31
-
-
0037180492
-
Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain
-
Tudor, M., Akbarian, S., Chen, R.Z. and Jaenisch, R. (2002) Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proc. Natl Acad. Sci. USA., 99, 15536-15541.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 15536-15541
-
-
Tudor, M.1
Akbarian, S.2
Chen, R.Z.3
Jaenisch, R.4
-
32
-
-
0242300612
-
DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation
-
Martinowich, K., Hattori, D., Wu, H., Fouse, S., He, F., Hu, Y., Fan, G. and Sun, Y.E. (2003) DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science 302, 890-893.
-
(2003)
Science
, vol.302
, pp. 890-893
-
-
Martinowich, K.1
Hattori, D.2
Wu, H.3
Fouse, S.4
He, F.5
Hu, Y.6
Fan, G.7
Sun, Y.E.8
-
33
-
-
0034657578
-
Histone deacetylase-independent transcriptional repression by methyl-CpG-binding protein 2
-
Yu, F., Thiesen, J. and Stratling, W.H. (2000) Histone deacetylase-independent transcriptional repression by methyl-CpG-binding protein 2. Nucl. Acids Res., 28, 2201-2206.
-
(2000)
Nucl. Acids Res.
, vol.28
, pp. 2201-2206
-
-
Yu, F.1
Thiesen, J.2
Stratling, W.H.3
-
34
-
-
0038136913
-
Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1
-
Kimura, H. and Shiota, K. (2003) Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1. J. Biol. Chem., 278, 4806-4812.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 4806-4812
-
-
Kimura, H.1
Shiota, K.2
-
35
-
-
0037423186
-
The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation
-
Fuks, F., Hurd, P.J., Wolf, D., Nan, X., Bird, A.P. and Kouzarides, T. (2003) The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation. J. Biol. Chem., 278, 4035-4040.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 4035-4040
-
-
Fuks, F.1
Hurd, P.J.2
Wolf, D.3
Nan, X.4
Bird, A.P.5
Kouzarides, T.6
-
36
-
-
0042357071
-
Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation
-
Georgel, P.T., Horowitz-Scherer, R.A., Adkins, N., Woodcock, C.L., Wade, P.A. and Hansen, J.C. (2003) Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation. J. Biol. Chem., 278, 32181-32188.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 32181-32188
-
-
Georgel, P.T.1
Horowitz-Scherer, R.A.2
Adkins, N.3
Woodcock, C.L.4
Wade, P.A.5
Hansen, J.C.6
-
37
-
-
10744222511
-
A WW domain binding region in methyl-CpG-binding protein MeCP2: Impact on Rett syndrome
-
Buschdorf, J.P. and Stratling, W.H. (2004) A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome. J. Mol. Med., 82, 135-143.
-
(2004)
J. Mol. Med.
, vol.82
, pp. 135-143
-
-
Buschdorf, J.P.1
Stratling, W.H.2
-
38
-
-
1942533500
-
Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice
-
Luikenhuis, S., Giacometti, E., Beard, C.F. and Jaenisch, R. (2004) Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. Proc. Natl Acad. Sci. USA, 101, 6033-6038.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 6033-6038
-
-
Luikenhuis, S.1
Giacometti, E.2
Beard, C.F.3
Jaenisch, R.4
-
39
-
-
2542481314
-
The major form of MeCP2 has a novel N-terminus generated by alternative splicing
-
Kriaucionis, S. and Bird, A. (2004) The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucl. Acids Res., 32, 1818-1823.
-
(2004)
Nucl. Acids Res.
, vol.32
, pp. 1818-1823
-
-
Kriaucionis, S.1
Bird, A.2
-
40
-
-
12144287057
-
A previously unidentified MECP2 open reading frame defines a new protein isoform, relevant to Rett syndrome
-
Mnatzakanian, G.N., Lohi, H., Munteanu, I., Alfred, S.E., Yamada, T., MacLeod, P.J., Jones, J.R., Scherer, S.W., Schanen, N.C., Friez, M.J. et al. (2004) A previously unidentified MECP2 open reading frame defines a new protein isoform, relevant to Rett syndrome. Nat. Genet., 36, 339-341.
-
(2004)
Nat. Genet.
, vol.36
, pp. 339-341
-
-
Mnatzakanian, G.N.1
Lohi, H.2
Munteanu, I.3
Alfred, S.E.4
Yamada, T.5
MacLeod, P.J.6
Jones, J.R.7
Scherer, S.W.8
Schanen, N.C.9
Friez, M.J.10
-
41
-
-
0026703934
-
Transgenic mice generated by pronuclear injection of a yeast artificial chromosome
-
Schedl, A., Beermann, F., Thies, E., Montoliu, L., Kelsey, G. and Schutz, G. (1992) Transgenic mice generated by pronuclear injection of a yeast artificial chromosome. Nucl. Acids Res., 20, 3073-3077.
-
(1992)
Nucl. Acids Res.
, vol.20
, pp. 3073-3077
-
-
Schedl, A.1
Beermann, F.2
Thies, E.3
Montoliu, L.4
Kelsey, G.5
Schutz, G.6
-
42
-
-
0028715755
-
Germ line transmission of yeast artificial chromosomes in transgenic mice
-
Montoliu, L., Schedl, A., Kelsey, G., Zentgraf, H., Lichter, P. and Schutz, G. (1994) Germ line transmission of yeast artificial chromosomes in transgenic mice. Reprod. Fertil. Dev., 6, 577-584.
-
(1994)
Reprod. Fertil. Dev.
, vol.6
, pp. 577-584
-
-
Montoliu, L.1
Schedl, A.2
Kelsey, G.3
Zentgraf, H.4
Lichter, P.5
Schutz, G.6
-
43
-
-
0034639935
-
Analysis of mammalian central nervous system gene expression and function using bacterial artificial chromosome-mediated transgenesis
-
Heintz, N. (2000) Analysis of mammalian central nervous system gene expression and function using bacterial artificial chromosome-mediated transgenesis. Hum. Mol. Genet., 9, 937-943.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 937-943
-
-
Heintz, N.1
-
44
-
-
0034007933
-
Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions
-
Reichwald, K., Thiesen, J., Wiehe, T., Weitzel, J., Poustka, W.A., Rosenthal, A., Platzer, M., Stratling, W.H. and Kioschis, P. (2000) Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions. Mamm. Genome, 11, 182-190.
-
(2000)
Mamm. Genome
, vol.11
, pp. 182-190
-
-
Reichwald, K.1
Thiesen, J.2
Wiehe, T.3
Weitzel, J.4
Poustka, W.A.5
Rosenthal, A.6
Platzer, M.7
Stratling, W.H.8
Kioschis, P.9
-
45
-
-
0037280319
-
Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation
-
Balmer, D., Goldstine, J., Rao, Y.M. and LaSalle, J.M. (2003) Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. J. Mol. Med., 81, 61-68.
-
(2003)
J. Mol. Med.
, vol.81
, pp. 61-68
-
-
Balmer, D.1
Goldstine, J.2
Rao, Y.M.3
LaSalle, J.M.4
-
46
-
-
0032776138
-
A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3′-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression
-
Coy, J.F., Sedlacek, Z., Bachner, D., Delius, H. and Poustka, A. (1999) A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3′-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression. Hum. Mol. Genet., 8, 1253-1262.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1253-1262
-
-
Coy, J.F.1
Sedlacek, Z.2
Bachner, D.3
Delius, H.4
Poustka, A.5
-
47
-
-
0037081840
-
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
-
Shahbazian, M.D., Antalffy, B., Armstrong, D.L. and Zoghbi, H.Y. (2002) Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum. Mol. Genet., 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
-
48
-
-
0031714678
-
Contextual learning and cue association in fear conditioning in mice: A strain comparison and a lesion study
-
Gerlai, R. (1998) Contextual learning and cue association in fear conditioning in mice: a strain comparison and a lesion study. Behav. Brain Res., 95, 191-203.
-
(1998)
Behav. Brain Res.
, vol.95
, pp. 191-203
-
-
Gerlai, R.1
-
49
-
-
0015433570
-
Innate and conditioned reactions to threat in rats with amygdaloid lesions
-
Blanchard, D.C. and Blanchard, R.J. (1972) Innate and conditioned reactions to threat in rats with amygdaloid lesions. J. Comp. Physiol. Psychol., 81, 281-290.
-
(1972)
J. Comp. Physiol. Psychol.
, vol.81
, pp. 281-290
-
-
Blanchard, D.C.1
Blanchard, R.J.2
-
50
-
-
0023655119
-
Quantal analysis of paired-pulse facilitation in guinea pig hippocampal slices
-
Hess, G., Kuhnt, U. and Voronin, L.L. (1987) Quantal analysis of paired-pulse facilitation in guinea pig hippocampal slices. Neurosci. Lett., 77, 187-192.
-
(1987)
Neurosci. Lett.
, vol.77
, pp. 187-192
-
-
Hess, G.1
Kuhnt, U.2
Voronin, L.L.3
-
51
-
-
3442895308
-
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication
-
Ariani, F., Mari, F., Pescucci, C., Longo, I., Bruttini, M., Meloni, I., Hayek, G., Rocchi, R., Zappella, M. and Renieri, A. (2004) Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication. Hum. Mutat., 24, 172-177.
-
(2004)
Hum. Mutat.
, vol.24
, pp. 172-177
-
-
Ariani, F.1
Mari, F.2
Pescucci, C.3
Longo, I.4
Bruttini, M.5
Meloni, I.6
Hayek, G.7
Rocchi, R.8
Zappella, M.9
Renieri, A.10
-
52
-
-
1642382091
-
Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders
-
Samaco, R.C., Nagarajan, R.P., Braunschweig, D. and LaSalle, J.M. (2004) Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders. Hum. Mol. Genet., 13, 629-639.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 629-639
-
-
Samaco, R.C.1
Nagarajan, R.P.2
Braunschweig, D.3
LaSalle, J.M.4
-
53
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage T4
-
Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, U.K.1
-
54
-
-
0027515614
-
Developmental analysis of hippocampal mossy fiber outgrowth in a mutant mouse with inherited spike-wave seizures
-
Qiao, X. and Noebels, J.L. (1993) Developmental analysis of hippocampal mossy fiber outgrowth in a mutant mouse with inherited spike-wave seizures. J. Neurosci., 13, 4622-4635.
-
(1993)
J. Neurosci.
, vol.13
, pp. 4622-4635
-
-
Qiao, X.1
Noebels, J.L.2
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