-
1
-
-
70349660072
-
The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome
-
Mégarbané, A. et al. The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome. Genet. Med. 11, 611-616 (2009).
-
(2009)
Genet. Med.
, vol.11
, pp. 611-616
-
-
Mégarbané, A.1
-
2
-
-
75149166144
-
Molecular basis of pharmacotherapies for cognition in Down syndrome
-
Gardiner, K. J. Molecular basis of pharmacotherapies for cognition in Down syndrome. Trends Pharmacol. Sci. 31, 66-73 (2010).
-
(2010)
Trends Pharmacol. Sci.
, vol.31
, pp. 66-73
-
-
Gardiner, K.J.1
-
3
-
-
34547811451
-
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
-
Prandini, P. et al. Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am. J.Hum. Genet. 81, 252-263 (2007).
-
(2007)
Am. J.Hum. Genet.
, vol.81
, pp. 252-263
-
-
Prandini, P.1
-
4
-
-
84856508563
-
Trisomy 21 and early brain development
-
Haydar, T. F. & Reeves, R. H. Trisomy 21 and early brain development. Trends Neurosci. 35, 81-91 (2012).
-
(2012)
Trends Neurosci.
, vol.35
, pp. 81-91
-
-
Haydar, T.F.1
Reeves, R.H.2
-
5
-
-
25444442381
-
An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes
-
O'Doherty, A. et al. An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309, 2033-2037 (2005)
-
(2005)
Science
, vol.309
, pp. 2033-2037
-
-
O'Doherty, A.1
-
6
-
-
79955998456
-
Gene therapy grows into young adulthood: Special review issue
-
Lee, B. & Davidson, B. L. Gene therapy grows into young adulthood: special review issue. Hum. Mol. Genet. 20, R1 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
-
-
Lee, B.1
Davidson, B.L.2
-
7
-
-
44449159596
-
X-inactivation reveals epigenetic anomalies in most hESC but identifies sublines that initiate as expected
-
Hall, L. L. et al. X-inactivation reveals epigenetic anomalies in most hESC but identifies sublines that initiate as expected. J. Cell. Physiol. 216, 445-452 (2008).
-
(2008)
J. Cell. Physiol.
, vol.216
, pp. 445-452
-
-
Hall, L.L.1
-
8
-
-
84860643156
-
Recurrent variations in DNA methylation in human pluripotent stemcells and their differentiated derivatives
-
Nazor, K. L. et al. Recurrent variations in DNA methylation in human pluripotent stemcells and their differentiated derivatives. Cell Stem Cell 10, 620-634 (2012).
-
(2012)
Cell Stem Cell
, vol.10
, pp. 620-634
-
-
Nazor, K.L.1
-
9
-
-
0026456701
-
The human XIST gene: Analysis of a 17 kb inactive X-specificRNA that contains conserved repeats and is highly localized within the nucleus
-
Brown, C. J. et al. The human XIST gene: analysis of a 17 kb inactive X-specificRNA that contains conserved repeats and is highly localized within the nucleus. Cell 71, 527-542 (1992).
-
(1992)
Cell
, vol.71
, pp. 527-542
-
-
Brown, C.J.1
-
10
-
-
0030034051
-
XIST RNA paints the inactive X chromosome at interphase: Evidence for a novel RNA involved in nuclear/chromosome structure
-
Clemson, C. M., McNeil, J. A., Willard, H. F. & Lawrence, J. B. XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure. J. Cell Biol. 132, 259-275 (1996).
-
(1996)
J. Cell Biol.
, vol.132
, pp. 259-275
-
-
Clemson, C.M.1
McNeil, J.A.2
Willard, H.F.3
Lawrence, J.B.4
-
11
-
-
24344454298
-
Delving into the diversity of facultative heterochromatin: The epigenetics of the inactive X chromosome
-
Heard, E. Delving into the diversity of facultative heterochromatin: the epigenetics of the inactive X chromosome. Curr. Opin. Genet. Dev. 15, 482-489 (2005).
-
(2005)
Curr. Opin. Genet. Dev.
, vol.15
, pp. 482-489
-
-
Heard, E.1
-
12
-
-
80052423475
-
XIST RNA and architecture of the inactive X chromosome: Implications for the repeat genome
-
Hall, L. L. & Lawrence, J. B. XIST RNA and architecture of the inactive X chromosome: implications for the repeat genome. Cold Spring Harb. Symp. Quant. Biol. 75, 345-356 (2010).
-
(2010)
Cold Spring Harb. Symp. Quant. Biol.
, vol.75
, pp. 345-356
-
-
Hall, L.L.1
Lawrence, J.B.2
-
13
-
-
15244353967
-
X-inactivation profile reveals extensive variability in X-linked gene expression in females
-
Carrel, L. & Willard, H. F. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434, 400-404 (2005).
-
(2005)
Nature
, vol.434
, pp. 400-404
-
-
Carrel, L.1
Willard, H.F.2
-
14
-
-
0030581152
-
A 450 kb transgene displays properties of the mammalian X-inactivation center
-
Lee, J. T., Strauss, W. M., Dausman, J. A. & Jaenisch, R. A 450 kb transgene displays properties of the mammalian X-inactivation center. Cell 86, 83-94 (1996).
-
(1996)
Cell
, vol.86
, pp. 83-94
-
-
Lee, J.T.1
Strauss, W.M.2
Dausman, J.A.3
Jaenisch, R.4
-
15
-
-
0036898974
-
Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XISTRNA with chromatin
-
Hall, L. L., Clemson, C. M., Byron, M., Wydner, K. & Lawrence, J. B. Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XISTRNA with chromatin. Hum.Mol. Genet. 11, 3157-3165 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 3157-3165
-
-
Hall, L.L.1
Clemson, C.M.2
Byron, M.3
Wydner, K.4
Lawrence, J.B.5
-
16
-
-
0037173064
-
Anectopichuman XIST genecaninduce chromosome inactivationin post differentiation human HT-1080 cells
-
Hall, L. L. et al.AnectopichumanXIST genecaninduce chromosome inactivationin postdifferentiation human HT-1080 cells. Proc. Natl Acad. Sci. USA 99, 8677-8682 (2002).
-
(2002)
Proc. Natl Acad. Sci. USA
, vol.99
, pp. 8677-8682
-
-
Hall, L.L.1
-
17
-
-
33847682924
-
Targeted gene addition into a specified location in the human genome using designed zinc finger nucleases
-
Moehle, E. A. et al. Targeted gene addition into a specified location in the human genome using designed zinc finger nucleases. Proc. Natl Acad. Sci. USA 104, 3055-3060 (2007).
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 3055-3060
-
-
Moehle, E.A.1
-
18
-
-
77955867185
-
Genome editing with engineered zinc finger nucleases
-
Urnov, F. D., Rebar, E. J.,Holmes, M. C., Zhang, H.S. & Gregory, P. D.Genome editing with engineered zinc finger nucleases. Nature Rev. Genet. 11, 636-646 (2010).
-
(2010)
Nature Rev. Genet.
, vol.11
, pp. 636-646
-
-
Urnov, F.D.1
Rebar, E.J.2
Holmes, M.C.3
Zhang, H.S.4
Gregory, P.D.5
-
19
-
-
77955157281
-
Functional genomics, proteomics, and regulatory DNA analysis in isogenic settings using zinc finger nuclease-driven transgenesis into a safe harbor locus in the human genome
-
DeKelver, R. C. et al. Functional genomics, proteomics, and regulatory DNA analysis in isogenic settings using zinc finger nuclease-driven transgenesis into a safe harbor locus in the human genome. Genome Res. 20, 1133-1142 (2010).
-
(2010)
Genome Res.
, vol.20
, pp. 1133-1142
-
-
Dekelver, R.C.1
-
20
-
-
50549089957
-
Disease-specific induced pluripotent stemcells
-
Park, I. H. et al. Disease-specific induced pluripotent stemcells. Cell 134, 877-886 (2008).
-
(2008)
Cell
, vol.134
, pp. 877-886
-
-
Park, I.H.1
-
21
-
-
34548264230
-
Classification of human chromosome 21 geneexpression variations in Down syndrome: Impact on disease phenotypes
-
Aït Yahya-Graison, E. et al. Classification of human chromosome 21 geneexpression variations in Down syndrome: impact on disease phenotypes. Am. J. Hum. Genet. 81, 475-491 (2007).
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 475-491
-
-
Aït Yahya-Graison, E.1
-
22
-
-
77958138433
-
Human embryonic stem cells as models for aneuploid chromosomal syndromes
-
Biancotti, J. C. et al. Human embryonic stem cells as models for aneuploid chromosomal syndromes. Stem Cells 28, 1530-1540 (2010).
-
(2010)
Stem Cells
, vol.28
, pp. 1530-1540
-
-
Biancotti, J.C.1
-
23
-
-
0035858882
-
Synergism of Xist RNA, DNA methylation, and histone hypoacetylation in maintaining X chromosome inactivation
-
Csankovszki, G., Nagy, A. & Jaenisch, R. Synergism of Xist RNA, DNA methylation, and histone hypoacetylation in maintaining X chromosome inactivation. J. Cell Biol. 153, 773-784 (2001).
-
(2001)
J. Cell Biol.
, vol.153
, pp. 773-784
-
-
Csankovszki, G.1
Nagy, A.2
Jaenisch, R.3
-
24
-
-
79961022818
-
Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation
-
Cotton, A. M. et al. Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation. Hum. Genet. 130, 187-201 (2011).
-
(2011)
Hum. Genet.
, vol.130
, pp. 187-201
-
-
Cotton, A.M.1
-
25
-
-
79953113713
-
Widespread proliferation impairment and hypocellularity in the cerebellum of fetuses with down syndrome
-
Guidi, S., Ciani, E., Bonasoni, P., Santini, D. & Bartesaghi, R. Widespread proliferation impairment and hypocellularity in the cerebellum of fetuses with down syndrome. Brain Pathol. 21, 361-373 (2011).
-
(2011)
Brain Pathol.
, vol.21
, pp. 361-373
-
-
Guidi, S.1
Ciani, E.2
Bonasoni, P.3
Santini, D.4
Bartesaghi, R.5
-
26
-
-
84863229339
-
A human stem cell model of early Alzheimer's disease pathology in Down syndrome
-
Shi, Y. et al. A human stem cell model of early Alzheimer's disease pathology in Down syndrome. Sci. Transl. Med. 4, 124ra29 (2012).
-
(2012)
Sci. Transl. Med.
, vol.4
-
-
Shi, Y.1
-
27
-
-
55049124666
-
Derivation of euploid human embryonic stemcells fromaneuploid embryos
-
Lavon, N. et al. Derivation of euploid human embryonic stemcells fromaneuploid embryos. Stem Cells 26, 1874-1882 (2008).
-
(2008)
Stem Cells
, vol.26
, pp. 1874-1882
-
-
Lavon, N.1
-
28
-
-
84868511774
-
Trisomy correction in down syndromeinduced pluripotent stemcells
-
Li, L. B. et al. Trisomy correction in down syndromeinduced pluripotent stemcells. Cell Stem Cell 11, 615-619 (2012).
-
(2012)
Cell Stem Cell
, vol.11
, pp. 615-619
-
-
Li, L.B.1
-
29
-
-
79952280348
-
Rapid and efficient clathrin-mediated endocytosis revealed in genome-edited mammalian cells
-
Doyon, J. B. et al. Rapid and efficient clathrin-mediated endocytosis revealed in genome-edited mammalian cells. Nature Cell Biol. 13, 331-337 (2011).
-
(2011)
Nature Cell Biol.
, vol.13
, pp. 331-337
-
-
Doyon, J.B.1
-
30
-
-
34447319080
-
An improved zinc-finger nuclease architecture for highly specific genome editing
-
Miller, J. C. et al. An improved zinc-finger nuclease architecture for highly specific genome editing. Nature Biotechnol. 25, 778-785 (2007).
-
(2007)
Nature Biotechnol.
, vol.25
, pp. 778-785
-
-
Miller, J.C.1
-
31
-
-
77957754251
-
A rapid and general assay for monitoring endogenous gene modification
-
Guschin, D. Y. et al. A rapid and general assay for monitoring endogenous gene modification. Methods Mol. Biol. 649, 247-256 (2010).
-
(2010)
Methods Mol. Biol.
, vol.649
, pp. 247-256
-
-
Guschin, D.Y.1
-
32
-
-
18944373328
-
Highly efficient endogenous human gene correction using designed zinc-finger nucleases
-
Urnov, F. D. et al. Highly efficient endogenous human gene correction using designed zinc-finger nucleases. Nature 435, 646-651 (2005).
-
(2005)
Nature
, vol.435
, pp. 646-651
-
-
Urnov, F.D.1
-
33
-
-
84878792718
-
A multifaceted FISH approach to study endogenous RNAs and DNAs in native nuclear and cell structures
-
Chapter 4, Unit 4 15
-
Byron, M., Hall, L. L. & Lawrence, J. B. A multifaceted FISH approach to study endogenous RNAs and DNAs in native nuclear and cell structures. Curr. Protoc. Hum. Gen. Chapter 4, Unit 4 15 (2013).
-
(2013)
Curr. Protoc. Hum. Gen.
-
-
Byron, M.1
Hall, L.L.2
Lawrence, J.B.3
-
34
-
-
12344280017
-
Summaries of Affymetrix GeneChip probe level data
-
Irizarry, R. A. et al. Summaries of Affymetrix GeneChip probe level data. Nucleic Acids Res. 31, e15 (2003).
-
(2003)
Nucleic Acids Res.
, vol.31
-
-
Irizarry, R.A.1
-
35
-
-
34047116826
-
Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome
-
Weber, M. et al. Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome. Nature Genet. 39, 457-466 (2007).
-
(2007)
Nature Genet.
, vol.39
, pp. 457-466
-
-
Weber, M.1
|