-
1
-
-
0036917867
-
Rett syndrome and MeCP2: Linking epigenetics and neuronal ftmction
-
Shahbazian, M.D. and Zoghbi, H.Y. (2002) Rett syndrome and MeCP2: Linking epigenetics and neuronal ftmction. Am. J. Hum. Genet., 71, 1259-1272.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1259-1272
-
-
Shahbazian, M.D.1
Zoghbi, H.Y.2
-
2
-
-
0034123060
-
Methyl-CpG-binding protein 2 mutations in rett syndrome
-
Van den Veyver, I.B. and Zoghbi, H.Y. (2000) Methyl-CpG-binding protein 2 mutations in rett syndrome. Curr. Opin. Genet. Dev., 10, 275-279.
-
(2000)
Curr. Opin. Genet. Dev.
, vol.10
, pp. 275-279
-
-
Van den Veyver, I.B.1
Zoghbi, H.Y.2
-
3
-
-
0032231652
-
Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28
-
Sirianni, N., Naidu, S., Pereira, J., Pillotto, R.F. and Hoffman, E.P. (1998) Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am. J. Hum. Genet., 63, 1552-1558.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1552-1558
-
-
Sirianni, N.1
Naidu, S.2
Pereira, J.3
Pillotto, R.F.4
Hoffman, E.P.5
-
4
-
-
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
-
5
-
-
0026747761
-
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
-
Lewis, J.D., Meehan, R.R., Henzel, W.J., Maurer-Fogy, I., Jeppesen, P., Klein, F. and Bird, A. (1992) Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell, 69, 905-914.
-
(1992)
Cell
, vol.69
, pp. 905-914
-
-
Lewis, J.D.1
Meehan, R.R.2
Henzel, W.J.3
Maurer-Fogy, I.4
Jeppesen, P.5
Klein, F.6
Bird, A.7
-
6
-
-
0026658662
-
Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA
-
Meehan, R.R., Lewis, J.D. and Bird, A.P. (1992) Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA. Nucl. Acids Res., 20, 5085-5092.
-
(1992)
Nucl. Acids Res.
, vol.20
, pp. 5085-5092
-
-
Meehan, R.R.1
Lewis, J.D.2
Bird, A.P.3
-
7
-
-
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
-
8
-
-
18144443930
-
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
-
Cheadle, J.P., Gill, H., Fleming, N., Maynard, J., Kerr, A., Leonard, H., Krawczak, M., Cooper, D.N., Lynch, S., Thomas, N. et al. (2000) Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location. Hum. Mol. Genet., 9, 1119-1129.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1119-1129
-
-
Cheadle, J.P.1
Gill, H.2
Fleming, N.3
Maynard, J.4
Kerr, A.5
Leonard, H.6
Krawczak, M.7
Cooper, D.N.8
Lynch, S.9
Thomas, N.10
-
9
-
-
0034701904
-
Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
-
Huppke, P., Laccone, F., Kramer, N., Engel, W. and Hanefeld, F. (2000) Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients. Hum. Mol. Genet., 9, 1369-1375.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1369-1375
-
-
Huppke, P.1
Laccone, F.2
Kramer, N.3
Engel, W.4
Hanefeld, F.5
-
10
-
-
0034060636
-
Mutation screening in Rett syndrome patients
-
Xiang, F., Buervenich, S., Nicolao, P., Bailey, M.E., Zhang, Z. and Anvret, M. (2000) Mutation screening in Rett syndrome patients. J. Med. Genet., 37, 250-255.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 250-255
-
-
Xiang, F.1
Buervenich, S.2
Nicolao, P.3
Bailey, M.E.4
Zhang, Z.5
Anvret, M.6
-
11
-
-
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
-
12
-
-
0033646567
-
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms
-
Buyse, I.M., Fang, P., Hoon, K.T., Amir, R.E., Zoghbi, H.Y. and Roa, B.B. (2000) Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms. Am. J. Hum. Genet., 67, 1428-1436.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1428-1436
-
-
Buyse, I.M.1
Fang, P.2
Hoon, K.T.3
Amir, R.E.4
Zoghbi, H.Y.5
Roa, B.B.6
-
13
-
-
18244432131
-
MECP2 mutation in male patients with non-specific X-linked mental retardation
-
Orrico, A., Lam, C., Galli, L., Dotti, M.T., Hayek, G., Tong, S.F., Poon, P.M., Zappella, M., Federico, A. and Sorrentino, V. (2000) MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett., 481, 285-288.
-
(2000)
FEBS Lett.
, vol.481
, pp. 285-288
-
-
Orrico, A.1
Lam, C.2
Galli, L.3
Dotti, M.T.4
Hayek, G.5
Tong, S.F.6
Poon, P.M.7
Zappella, M.8
Federico, A.9
Sorrentino, V.10
-
14
-
-
0034711147
-
Two affected boys in a Rett syndrome family: Clinical and molecular findings
-
Villard, L., Cardoso, A.K., Chelly, P.J., Tardieu, P.M. and Fontes, M. (2000) Two affected boys in a Rett syndrome family: Clinical and molecular findings. Neurology, 55, 1188-1193.
-
(2000)
Neurology
, vol.55
, pp. 1188-1193
-
-
Villard, L.1
Cardoso, A.K.2
Chelly, P.J.3
Tardieu, P.M.4
Fontes, M.5
-
15
-
-
0034596477
-
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
-
Clayton-Smith, J., Watson, P., Ramsden, S. and Black, G.C. (2000) Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet, 356, 830-832.
-
(2000)
Lancet
, vol.356
, pp. 830-832
-
-
Clayton-Smith, J.1
Watson, P.2
Ramsden, S.3
Black, G.C.4
-
16
-
-
0035870846
-
MECP2 is highly mutated in X-linked mental retardation
-
Convert, 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
-
-
Convert, 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
-
17
-
-
0035054930
-
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
-
Watson, P., Black, G., Ramsden, S., Barrow, M., Super, M., Kerr, B. and Clayton-Smith, J. (2001) Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J. Med. Genet., 38, 224-228.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 224-228
-
-
Watson, P.1
Black, G.2
Ramsden, S.3
Barrow, M.4
Super, M.5
Kerr, B.6
Clayton-Smith, J.7
-
18
-
-
0035080490
-
Parental origin of de novo MECP2 mutations in Rett syndrome
-
Girard, M., Convert, P., Carrie, A., Tardieu, M., Chelly, J., Beldjord, C. and Bienvenu, T. (2001) Parental origin of de novo MECP2 mutations in Rett syndrome. Eur. J. Hum. Genet., 9, 231-236.
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, pp. 231-236
-
-
Girard, M.1
Convert, P.2
Carrie, A.3
Tardieu, M.4
Chelly, J.5
Beldjord, C.6
Bienvenu, T.7
-
19
-
-
0035013739
-
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
-
Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F. and Engel, W. (2001) MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am. J. Hum. Genet., 68, 1093-1101.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1093-1101
-
-
Trappe, R.1
Laccone, F.2
Cobilanschi, J.3
Meins, M.4
Huppke, P.5
Hanefeld, F.6
Engel, W.7
-
20
-
-
0034640004
-
Autism: Recent molecular genetic advances
-
Lamb, J.A., Moore, J., Bailey, A. and Monaco, A.P. (2000) Autism: Recent molecular genetic advances. Hum. Mol. Genet., 9, 861-868.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 861-868
-
-
Lamb, J.A.1
Moore, J.2
Bailey, A.3
Monaco, A.P.4
-
22
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain, S., Quach, H., Betancur, C., Rastam, M., Colineaux, C., Gillberg, I.C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C. et al. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet., 34, 27-29.
-
(2003)
Nat. Genet.
, vol.34
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Rastam, M.4
Colineaux, C.5
Gillberg, I.C.6
Soderstrom, H.7
Giros, B.8
Leboyer, M.9
Gillberg, C.10
-
23
-
-
0034540747
-
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome
-
Lam, C., Yeung, W., Ko, C., Poon, P., Tong, S., Chan, K., Lo, I., Chan, L., Hui, J., Wong, V. et al. (2000) Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J. Med. Genet., 37, E41.
-
(2000)
J. Med. Genet.
, vol.37
-
-
Lam, C.1
Yeung, W.2
Ko, C.3
Poon, P.4
Tong, S.5
Chan, K.6
Lo, I.7
Chan, L.8
Hui, J.9
Wong, V.10
-
24
-
-
0036820950
-
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism
-
and International Molecular Genetic Study of Autism
-
Beyer, K.S., Blasi, F., Bacchelli, E., Klauck, S.M., Maestrini, E., Poustka, A. and International Molecular Genetic Study of Autism (2002) Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Hum. Genet., 111, 305-309.
-
(2002)
Hum. Genet.
, vol.111
, pp. 305-309
-
-
Beyer, K.S.1
Blasi, F.2
Bacchelli, E.3
Klauck, S.M.4
Maestrini, E.5
Poustka, A.6
-
25
-
-
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
-
26
-
-
0034865096
-
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
-
Vourc'h, P., Bienvenu, T., Beldjord, C., Chelly, J., Barthelemy, C., Muh, J.P. and Andres, C. (2001) No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. Eur. J. Hum. Genet., 9, 556-558.
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, pp. 556-558
-
-
Vourc'h, P.1
Bienvenu, T.2
Beldjord, C.3
Chelly, J.4
Barthelemy, C.5
Muh, J.P.6
Andres, C.7
-
27
-
-
0042878489
-
Absence of MeCP2 mutations in patients from the South Carolina autism project
-
Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J. and Michaelis, R.C. (2003) Absence of MeCP2 mutations in patients from the South Carolina autism project. Am. J. Med. Genet., 11713, 97-101.
-
(2003)
Am. J. Med. Genet.
, vol.117 B
, pp. 97-101
-
-
Lobo-Menendez, F.1
Sossey-Alaoui, K.2
Bell, J.M.3
Copeland-Yates, S.A.4
Plank, S.M.5
Sanford, S.O.6
Skinner, C.7
Simensen, R.J.8
Schroer, R.J.9
Michaelis, R.C.10
-
28
-
-
0035880454
-
Quantitative localization of heterologous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry
-
LaSalle, J., Goldstine, J., Balmer, D. and Greco, C. (2001) Quantitative localization of heterologous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Hum. Mol. Genet., 10, 1729-1740.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1729-1740
-
-
LaSalle, J.1
Goldstine, J.2
Balmer, D.3
Greco, C.4
-
29
-
-
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
-
30
-
-
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
-
31
-
-
0035170550
-
Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex
-
Akbarian, S., Chen, R.Z., Gribnau, J., Rasmussen, T.P., Fong, H., Jaenisch, R. and Jones, E.G. (2001) Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex. Neurobiol. Dis., 8, 784-791.
-
(2001)
Neurobiol. Dis.
, vol.8
, pp. 784-791
-
-
Akbarian, S.1
Chen, R.Z.2
Gribnau, J.3
Rasmussen, T.P.4
Fong, H.5
Jaenisch, R.6
Jones, E.G.7
-
32
-
-
0037381336
-
The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells
-
Jung, B.P., Jugloff, D.G., Zhang, G., Logan, R., Brown, S. and Eubanks, J.H. (2003) The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells. J. Neurobiol., 55, 86-96.
-
(2003)
J. Neurobiol.
, vol.55
, pp. 86-96
-
-
Jung, B.P.1
Jugloff, D.G.2
Zhang, G.3
Logan, R.4
Brown, S.5
Eubanks, J.H.6
-
33
-
-
0030188404
-
Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2
-
D'Esposito, M., Quaderi, N.A., Ciccodicola, A., Bruni, P., Esposito, T., D'Urso, M. and Brown, S.D. (1996) Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2. Mamm. Genome, 7, 533-535.
-
(1996)
Mamm. Genome
, vol.7
, pp. 533-535
-
-
D'Esposito, M.1
Quaderi, N.A.2
Ciccodicola, A.3
Bruni, P.4
Esposito, T.5
D'Urso, M.6
Brown, S.D.7
-
34
-
-
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
-
35
-
-
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
-
36
-
-
0038601952
-
Evidence of brain overgrowth in the first year of life in autism
-
Courchesne, E., Carper, R. and Akshoomoff, N. (2003) Evidence of brain overgrowth in the first year of life in autism. JAMA, 290, 337-344.
-
(2003)
JAMA
, vol.290
, pp. 337-344
-
-
Courchesne, E.1
Carper, R.2
Akshoomoff, N.3
-
37
-
-
0038263152
-
Increased rate of head growth during infancy in autism
-
Lainhart, J.E. (2003) Increased rate of head growth during infancy in autism. JAMA, 290, 393-394.
-
(2003)
JAMA
, vol.290
, pp. 393-394
-
-
Lainhart, J.E.1
|