-
1
-
-
70349660072
-
The 50th anniversary of the discovery of trisomy 21: The past, present and future of research and treatment of Down syndrome
-
Mégarbané AR, Mircher C, Sturtz FG, Rethoré MO, Delabar JM, Mobley WC. The 50th anniversary of the discovery of trisomy 21: the past, present and future of research and treatment of Down syndrome. Genet Med 2009; 11:611-616.
-
(2009)
Genet Med
, vol.11
, pp. 611-616
-
-
Mégarbané, A.R.1
Mircher, C.2
Sturtz, F.G.3
Rethoré, M.O.4
Delabar, J.M.5
Mobley, W.C.6
-
2
-
-
0028341315
-
Down syndrome phenotypes: The consequences of chromosomal imbalance
-
Korenberg JR, Chen XN, Schipper R, et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci U S A 1994; 91:4997-5001.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 4997-5001
-
-
Korenberg, J.R.1
Chen, X.N.2
Schipper, R.3
-
3
-
-
62849113692
-
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
-
Lyle R, Bena F, Gagos S, et al. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 2009;17:454-466.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 454-466
-
-
Lyle, R.1
Bena, F.2
Gagos, S.3
-
4
-
-
67749148222
-
The genetic architecture of Down syndrome phenotypes revealed by high resolution analysis of human segmental trisomies
-
Korbel JO, Tirosh-Wagner T, Urban AE, et al. The genetic architecture of Down syndrome phenotypes revealed by high resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A 2009;106:12031-12036.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 12031-12036
-
-
Korbel, J.O.1
Tirosh-Wagner, T.2
Urban, A.E.3
-
5
-
-
70349726707
-
Preliminary results from the development and validation of a neuropsychological battery for genetic studies in Down syndrome
-
Washington, D.C., November
-
Nadel L, Allman M, Capone G, et al. Preliminary results from the development and validation of a neuropsychological battery for genetic studies in Down syndrome. Society for Neuroscience, Washington, D.C., November 15-19, 2008.
-
(2008)
Society for Neuroscience
, pp. 15-19
-
-
Nadel, L.1
Allman, M.2
Capone, G.3
-
6
-
-
61849113737
-
Brain (1)H-MR spectroscopy in clinical neuroimaging at 3T
-
Jissendi Tchofo P, Baleriaux D. Brain (1)H-MR spectroscopy in clinical neuroimaging at 3T. J Neuroradiol 2009;36:24-40.
-
(2009)
J Neuroradiol
, Issue.36
, pp. 24-40
-
-
Jissendi Tchofo, P.1
Baleriaux, D.2
-
7
-
-
42949095458
-
Cre-loxP system as a versatile tool for conferring increased levels of tissue-specific gene expression from a weak promoter
-
Nakamura S, Watanabe S, Ohtsuka M, et al. Cre-loxP system as a versatile tool for conferring increased levels of tissue-specific gene expression from a weak promoter. Mol Reprod Dev 2008;75:1085-1093.
-
(2008)
Mol Reprod Dev
, vol.75
, pp. 1085-1093
-
-
Nakamura, S.1
Watanabe, S.2
Ohtsuka, M.3
-
8
-
-
65549123471
-
HDAC2 negatively regulates memory formation and synaptic plasticity
-
Guan JS, Haggarty SJ, Giacometti E, et al. HDAC2 negatively regulates memory formation and synaptic plasticity. Nature 2009;459:55-60.
-
(2009)
Nature
, vol.459
, pp. 55-60
-
-
Guan, J.S.1
Haggarty, S.J.2
Giacometti, E.3
-
9
-
-
0018290374
-
Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21)
-
Couturier J, Dutrillaux B, Garber P, et al. Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21). Hum Genet 1979;49:319-326.
-
(1979)
Hum Genet
, vol.49
, pp. 319-326
-
-
Couturier, J.1
Dutrillaux, B.2
Garber, P.3
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