-
1
-
-
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., & Zoghbi, H.Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23, 185-188.
-
(1999)
Nature Genetics
, 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
-
2
-
-
0037318792
-
Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies
-
Beever, C.L., Stephenson, M.D., Penaherrera, M.S., Jiang, R.H., Kalousek, D.K., et al. (2003). Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies. American Journal of Human Genetics, 72, 399-407.
-
(2003)
American Journal of Human Genetics
, vol.72
, pp. 399-407
-
-
Beever, C.L.1
Stephenson, M.D.2
Penaherrera, M.S.3
Jiang, R.H.4
Kalousek, D.K.5
Et al.6
-
3
-
-
84877805925
-
Comparison of X chromosome inactivation patterns in multiple tissues from human females
-
Bittel, D.C., Theodoro, M., Kibiryeva, N., Fischer, W., Talebizadeh, Z., & Butler, M.G. (2007). Comparison of X chromosome inactivation patterns in multiple tissues from human females. Journal of Medical Genetics, 72, 399-407.
-
(2007)
Journal of Medical Genetics
, vol.72
, pp. 399-407
-
-
Bittel, D.C.1
Theodoro, M.2
Kibiryeva, N.3
Fischer, W.4
Talebizadeh, Z.5
Butler, M.G.6
-
4
-
-
0033674607
-
The causes and consequences of random and non-random X chromosome inactivation in humans
-
Brown, C.J., & Robinson, W.P. (2000). The causes and consequences of random and non-random X chromosome inactivation in humans. Clinical Genetics, 58, 353-363.
-
(2000)
Clinical Genetics
, vol.58
, pp. 353-363
-
-
Brown, C.J.1
Robinson, W.P.2
-
5
-
-
0032550174
-
The genomic sequences bound to special AT-rich sequencebinding protein 1 (SATB1) in vivo in Jurkat T cells are tightly associated with the nuclear matrix at the bases of the chromatin loops
-
De Belle, I., Cai, S., & Kohwi-Shigematsu, T. (1998). The genomic sequences bound to special AT-rich sequencebinding protein 1 (SATB1) in vivo in Jurkat T cells are tightly associated with the nuclear matrix at the bases of the chromatin loops. The Journal of Cell Biology, 141, 335-348.
-
(1998)
The Journal of Cell Biology
, vol.141
, pp. 335-348
-
-
De Belle, I.1
Cai, S.2
Kohwi-Shigematsu, T.3
-
6
-
-
11244258156
-
Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development
-
Filippova, G.N., Cheng, M.K., Moore, J.M., Truong, J.P., Hu, Y.J., et al. (2005). Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development. Developmental Cell, 8, 31-42.
-
(2005)
Developmental Cell
, vol.8
, pp. 31-42
-
-
Filippova, G.N.1
Cheng, M.K.2
Moore, J.M.3
Truong, J.P.4
Hu, Y.J.5
Et al.6
-
7
-
-
0029929793
-
An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes
-
Filippova, G.N., Fagerlie, S., Klenova, E.M., Myers, C., Dehner, Y., et al. (1996). An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes. Molecular and Cellular Biology, 16, 2802-2813.
-
(1996)
Molecular and Cellular Biology
, vol.16
, pp. 2802-2813
-
-
Filippova, G.N.1
Fagerlie, S.2
Klenova, E.M.3
Myers, C.4
Dehner, Y.5
Et al.6
-
8
-
-
51449112549
-
Analysis of X chromosome inactivation in autism spectrum disorders
-
[Epub ahead of print]
-
Gong, X., Bacchelli, E., Blasi, F., Toma, C., Betancur, C., et al. (2008). Analysis of X chromosome inactivation in autism spectrum disorders. American Journal of Medical Genetics B Neuropsychiatric Genetics: March 24 [Epub ahead of print].
-
(2008)
American Journal of Medical Genetics B Neuropsychiatric Genetics: March 24
-
-
Gong, X.1
Bacchelli, E.2
Blasi, F.3
Toma, C.4
Betancur, C.5
Et al.6
-
9
-
-
0023713768
-
Absence of methylation of a CpGrich region at the 50 end of the MIC2 gene on the active X, the inactive X, and the Y chromosome
-
Goodfellow, P.J., Mondello, C., Darling, S.M., Pym, B., Little, P., & Goodfellow, P.N. (1988). Absence of methylation of a CpGrich region at the 50 end of the MIC2 gene on the active X, the inactive X, and the Y chromosome. Proceedings of the National Academy of Sciences of the United States of America, 85, 5605-5609.
-
(1988)
Proceedings of the National Academy of Sciences of the United States of America
, vol.85
, pp. 5605-5609
-
-
Goodfellow, P.J.1
Mondello, C.2
Darling, S.M.3
Pym, B.4
Little, P.5
Goodfellow, P.N.6
-
10
-
-
33745787015
-
The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism
-
Hertz-Picciotto, I., Croen, L.A., Hansen, R., Jones, C.R., Van De Water, J., & Pessah, I.N. (2006). The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism. Environmental Health Perspectives, 114, 1119-1125.
-
(2006)
Environmental Health Perspectives
, vol.114
, pp. 1119-1125
-
-
Hertz-Picciotto, I.1
Croen, L.A.2
Hansen, R.3
Jones, C.R.4
Van De Water, J.5
Pessah, I.N.6
-
11
-
-
33750443887
-
Very mild cases of Rett syndrome with skewed X inactivation
-
Huppke, P., Maier, E.M., Warnke, A., Brendel, C., Laccone, F., & Gartner, J. (2006). Very mild cases of Rett syndrome with skewed X inactivation. Journal of Medical Genetics, 43, 814-816.
-
(2006)
Journal of Medical Genetics
, vol.43
, pp. 814-816
-
-
Huppke, P.1
Maier, E.M.2
Warnke, A.3
Brendel, C.4
Laccone, F.5
Gartner, J.6
-
12
-
-
5444246895
-
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
-
Jiang, Y.H., Sahoo, T., Michaelis, R.C., Bercovich, D., Bressler, J., et al. (2004). A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. American Journal of Medical Genetics, 131A, 1-10.
-
(2004)
American Journal of Medical Genetics
, vol.131 A
, pp. 1-10
-
-
Jiang, Y.H.1
Sahoo, T.2
Michaelis, R.C.3
Bercovich, D.4
Bressler, J.5
Et al.6
-
13
-
-
33750415286
-
Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers
-
Knudsen, G.P., Neilson, T.C., Pedersen, J., Kerr, A., Schwartz, M., et al. (2006). Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. European Journal of Human Genetics, 14, 1189-1194.
-
(2006)
European Journal of Human Genetics
, vol.14
, pp. 1189-1194
-
-
Knudsen, G.P.1
Neilson, T.C.2
Pedersen, J.3
Kerr, A.4
Schwartz, M.5
Et al.6
-
15
-
-
1842715884
-
Genomic imprinting: CTCF protects the boundaries
-
Lewis, A., & Murrell, A. (2004). Genomic imprinting: CTCF protects the boundaries. Current Biology, 14, R284-R286.
-
(2004)
Current Biology
, vol.14
-
-
Lewis, A.1
Murrell, A.2
-
16
-
-
0036856355
-
MethPrimer: designing primers for methylation PCRs
-
Li, L.C., & Dahiya, R. (2002). MethPrimer: designing primers for methylation PCRs. Bioinformatics, 18, 1427-1431.
-
(2002)
Bioinformatics
, vol.18
, pp. 1427-1431
-
-
Li, L.C.1
Dahiya, R.2
-
17
-
-
0003428096
-
-
Los Angeles: Western Psychological Sevices
-
Lord, C., Rutter, M., Di Lavore, P., & Risi, S. (2000). The Autism Diagnostic Obersrvation Schedule Manual. Los Angeles: Western Psychological Sevices.
-
(2000)
The Autism Diagnostic Obersrvation Schedule Manual
-
-
Lord, C.1
Rutter, M.2
Di Lavore, P.3
Risi, S.4
-
18
-
-
7144223296
-
Gene action in the X-chromosome of the mouse (Mus musculus L.)
-
Lyon, M.F. (1961). Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature, 190, 372-373.
-
(1961)
Nature
, vol.190
, pp. 372-373
-
-
Lyon, M.F.1
-
19
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall, C.R., Noor, A., Vincent, J.B., Lionel, A.C., Feuk, L., et al. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82, 477-488.
-
(2008)
American Journal of Human Genetics
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
Lionel, A.C.4
Feuk, L.5
Et al.6
-
20
-
-
34247095504
-
Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation
-
Nagarajan, R.P., Hogart, A.R., Gwye, Y., Martin, M.R., & Lasalle, J. M. (2006). Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics, 1, 172-182.
-
(2006)
Epigenetics
, vol.1
, pp. 172-182
-
-
Nagarajan, R.P.1
Hogart, A.R.2
Gwye, Y.3
Martin, M.R.4
Lasalle, J.M.5
-
21
-
-
0036306870
-
Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders
-
Plenge, R.M., Stevenson, R.A., Lubs, H.A., Schwartz, C.E., & Willard, H.F. (2002). Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. American Journal of Human Genetics, 71, 168-173.
-
(2002)
American Journal of Human Genetics
, vol.71
, pp. 168-173
-
-
Plenge, R.M.1
Stevenson, R.A.2
Lubs, H.A.3
Schwartz, C.E.4
Willard, H.F.5
-
22
-
-
33846960168
-
A public health collaboration for the surveillance of autism spectrum disorders
-
Rice, C.E., Baio, J., Van NaarDen Braun, K., Doernberg, N., Meaney, F.J., & Kirby, R.S. (2007). A public health collaboration for the surveillance of autism spectrum disorders. Paediatric and Perinatal Epidemiology, 21, 179-190.
-
(2007)
Paediatric and Perinatal Epidemiology
, vol.21
, pp. 179-190
-
-
Rice, C.E.1
Baio, J.2
Van NaarDen Braun, K.3
Doernberg, N.4
Meaney, F.J.5
Kirby, R.S.6
-
23
-
-
1642382091
-
Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autismspectrum disorders
-
Samaco, R.C., Nagarajan, R.P., Braunschweig, D., & La Salle, J.M. (2004). Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autismspectrum disorders. Human Molecular Genetics, 13, 629-639.
-
(2004)
Human Molecular Genetics
, vol.13
, pp. 629-639
-
-
Samaco, R.C.1
Nagarajan, R.P.2
Braunschweig, D.3
La Salle, J.M.4
-
24
-
-
34247481814
-
Strong association of De novo copy number mutations with autism
-
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., et al. (2007). Strong association of De novo copy number mutations with autism. Science, 316, 445-449.
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
Et al.6
-
25
-
-
33644959298
-
Brief report: non-random X chromosome inactivation in females with autism
-
Talebizadeh, Z., Bittel, D.C., Veatch, O.J., Kibiryeva, N., & Butler, M.G. (2005). Brief report: non-random X chromosome inactivation in females with autism. Journal of Autism and Developmental Disorders, 35, 675-681.
-
(2005)
Journal of Autism and Developmental Disorders
, vol.35
, pp. 675-681
-
-
Talebizadeh, Z.1
Bittel, D.C.2
Veatch, O.J.3
Kibiryeva, N.4
Butler, M.G.5
-
26
-
-
34948857612
-
Dynamic changes in histone H3 lysine 9 acetylation localization patterns during neuronal maturation require MeCP2
-
Thatcher, K.N., & Lasalle, J.M. (2006). Dynamic changes in histone H3 lysine 9 acetylation localization patterns during neuronal maturation require MeCP2. Epigenetics, 1, 24-31.
-
(2006)
Epigenetics
, vol.1
, pp. 24-31
-
-
Thatcher, K.N.1
Lasalle, J.M.2
-
27
-
-
15544382113
-
Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples
-
Thatcher, K.N., Peddada, S., Yasui, D.H., & Lasalle, J.M. (2005). Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples. Human Molecular Genetics, 14, 785-797.
-
(2005)
Human Molecular Genetics
, vol.14
, pp. 785-797
-
-
Thatcher, K.N.1
Peddada, S.2
Yasui, D.H.3
Lasalle, J.M.4
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