-
1
-
-
0034682403
-
-
Hattori M, Fujiyama A, Taylor TD, et al. Chromosome 21 mapping and sequencing consortium. The DNA sequence of human chromosome 21. Nature 2000; 405(6784):311-9. Erratum in: Nature 2000; 407(6800):110.
-
Hattori M, Fujiyama A, Taylor TD, et al. Chromosome 21 mapping and sequencing consortium. The DNA sequence of human chromosome 21. Nature 2000; 405(6784):311-9. Erratum in: Nature 2000; 407(6800):110.
-
-
-
-
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 1994; 91:4997-5001.
-
(1994)
Proc Natl Acad Sci
, vol.91
, pp. 4997-5001
-
-
Korenberg, J.R.1
Chen, X.N.2
Schipper, R.3
-
3
-
-
0024712933
-
Molecular genetic approach to the characterization of the Down syndrome region of chromosome 21
-
McCormick M, Schinzel A, Petersen M, et al. Molecular genetic approach to the characterization of the Down syndrome region of chromosome 21. Genomics1989; 5:325-331.
-
(1989)
Genomics
, vol.5
, pp. 325-331
-
-
McCormick, M.1
Schinzel, A.2
Petersen, M.3
-
4
-
-
0025170497
-
Molecular definition of the region of chromosome 21 that causes features of the Down syndrome phenotype
-
Korenberg J, Kawashima H, Pulst MS, et al. Molecular definition of the region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet 1990; 47:236-246.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 236-246
-
-
Korenberg, J.1
Kawashima, H.2
Pulst, M.S.3
-
5
-
-
0027874350
-
Molecular mapping of twenty-four features of Down syndrome on chromosome 21
-
Delabar JM, Theophile D, Rahmani Z, et al. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1993; 1:114-124.
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 114-124
-
-
Delabar, J.M.1
Theophile, D.2
Rahmani, Z.3
-
6
-
-
0038142350
-
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome
-
Hitzler JK, Cheung J, Li Y, et al. GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood 2003; 101:4301-4304.
-
(2003)
Blood
, vol.101
, pp. 4301-4304
-
-
Hitzler, J.K.1
Cheung, J.2
Li, Y.3
-
7
-
-
0038142390
-
Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis
-
Mundschau G, Gurbuxani S, Gamis AS, et al. Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. Blood 2003; 101:4298-4300.
-
(2003)
Blood
, vol.101
, pp. 4298-4300
-
-
Mundschau, G.1
Gurbuxani, S.2
Gamis, A.S.3
-
8
-
-
0026088977
-
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer disease
-
Goate A, Chartier-Harlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer disease. Nature 1991; 349:704-706.
-
(1991)
Nature
, vol.349
, pp. 704-706
-
-
Goate, A.1
Chartier-Harlin, M.C.2
Mullan, M.3
-
9
-
-
0034762806
-
Down syndrome: Advance in molecular biology and neuro-sciences
-
George T, Capone MD. Down syndrome: Advance in molecular biology and neuro-sciences. J Dev Behav Pradiatr 2001; 22:40-59.
-
(2001)
J Dev Behav Pradiatr
, vol.22
, pp. 40-59
-
-
George, T.1
Capone, M.D.2
-
10
-
-
0034969415
-
Homocysteine metabolism in children with Down syndrome: In vitro modulation
-
Progribona M, Melnyk S, Pogribona I, et al. Homocysteine metabolism in children with Down syndrome: in vitro modulation. Am J Hum Genet 2001; 69:88-95.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 88-95
-
-
Progribona, M.1
Melnyk, S.2
Pogribona, I.3
-
11
-
-
18544383778
-
Down syndrome congenital heart disease: A narrow region and a candidate gene
-
Barlow GM, Chen XN, Shi ZY, et al. Down syndrome congenital heart disease: A narrow region and a candidate gene. Genet Med 2001; 3:91-101.
-
(2001)
Genet Med
, vol.3
, pp. 91-101
-
-
Barlow, G.M.1
Chen, X.N.2
Shi, Z.Y.3
-
12
-
-
0037339732
-
Molecular changes in fetal Down syndrome brain
-
Engidawork E, Lubec G. Molecular changes in fetal Down syndrome brain. J Neurochem 2003; 84:895-904.
-
(2003)
J Neurochem
, vol.84
, pp. 895-904
-
-
Engidawork, E.1
Lubec, G.2
-
13
-
-
0347193003
-
DSCR1 gene expression is dependent on NFATc1 during cardiac valve formation and colocalizes with anomalous organ development in trisomy 16 mice
-
Lange AW, Molkentin JD, Yutzey KE. DSCR1 gene expression is dependent on NFATc1 during cardiac valve formation and colocalizes with anomalous organ development in trisomy 16 mice. Dev Biol 2004; 266:346-360.
-
(2004)
Dev Biol
, vol.266
, pp. 346-360
-
-
Lange, A.W.1
Molkentin, J.D.2
Yutzey, K.E.3
-
14
-
-
0347479365
-
Overexpression of chromosome 21 transcription factor ETS2 induces neuronal apoptosis
-
Wolvetang EJ, Bradfield OM, Hatzistavrou T, et al. Overexpression of chromosome 21 transcription factor ETS2 induces neuronal apoptosis. Neurobiol Dis 2003; 14:349-356.
-
(2003)
Neurobiol Dis
, vol.14
, pp. 349-356
-
-
Wolvetang, E.J.1
Bradfield, O.M.2
Hatzistavrou, T.3
-
15
-
-
1842610580
-
Down syndrome and beta-amyloid deposition
-
Head E, Lott IT. Down syndrome and beta-amyloid deposition. Curr Opin Neurol 2004; 17:95-100.
-
(2004)
Curr Opin Neurol
, vol.17
, pp. 95-100
-
-
Head, E.1
Lott, I.T.2
-
16
-
-
0022271552
-
Mouse Trisomy 16: An animal model of human trisomy 21 (Down syndrome)
-
Epstein CJ, Cox DR, Epstein LB. Mouse Trisomy 16: An animal model of human trisomy 21 (Down syndrome). Ann NY Acad Sci 1985; 450:157-168.
-
(1985)
Ann NY Acad Sci
, vol.450
, pp. 157-168
-
-
Epstein, C.J.1
Cox, D.R.2
Epstein, L.B.3
-
17
-
-
0025663975
-
Segmental trisomy for murine chromosome 16: A new system for studying Down syndrome
-
Davisson MT, Schmidt C, Akeson EC. Segmental trisomy for murine chromosome 16: A new system for studying Down syndrome. Prog Clin Biol Res 1990; 360:263-280.
-
(1990)
Prog Clin Biol Res
, vol.360
, pp. 263-280
-
-
Davisson, M.T.1
Schmidt, C.2
Akeson, E.C.3
-
18
-
-
0032568615
-
Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibit learning and behavioral abnormalities
-
Sago H, Carlson EJ, Smith DJ, et al. Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibit learning and behavioral abnormalities. Proc Natl Acad Sci 1998; 95:6256-6261.
-
(1998)
Proc Natl Acad Sci
, vol.95
, pp. 6256-6261
-
-
Sago, H.1
Carlson, E.J.2
Smith, D.J.3
-
19
-
-
0028045084
-
The environmental basis of the Down syndrome phenotype
-
Shapiro BL. The environmental basis of the Down syndrome phenotype. Dev Med Child Neurol 1994; 36:84.
-
(1994)
Dev Med Child Neurol
, vol.36
, pp. 84
-
-
Shapiro, B.L.1
-
20
-
-
0021355850
-
Down Syndrome: Is dissatisfaction with disclosure of diagnosis inevitable?
-
Cunningham CC. Down Syndrome: is dissatisfaction with disclosure of diagnosis inevitable? Dev Me Chil Neurol 1984; 26:33-9.
-
(1984)
Dev Me Chil Neurol
, vol.26
, pp. 33-39
-
-
Cunningham, C.C.1
-
21
-
-
30944468441
-
Apoyo postnatal para madres de niños con síndrome de Down.
-
Skotko B, Canal R. Apoyo postnatal para madres de niños con síndrome de Down. Rev Síndrome Down 2004; 21:54-71.
-
(2004)
Rev Síndrome Down
, vol.21
, pp. 54-71
-
-
Skotko, B.1
Canal, R.2
-
22
-
-
14644404232
-
Mothers of children with Down Syndrome reflect on their postnatal support
-
Skotko B. Mothers of children with Down Syndrome reflect on their postnatal support. Pediatrics 2005; 115(1):64-77.
-
(2005)
Pediatrics
, vol.115
, Issue.1
, pp. 64-77
-
-
Skotko, B.1
-
23
-
-
0013061008
-
Living with Down syndrome: The family experience
-
Van Riper M. Living with Down syndrome: The family experience. Down Syndrome Quarterly 1999; 4(1).
-
(1999)
Down Syndrome Quarterly
, vol.4
, Issue.1
-
-
Van Riper, M.1
-
24
-
-
50849139825
-
Apego y vinculación en el síndrome de Down: Una emergencia afectiva.
-
Disponible en
-
Rossel K. Apego y vinculación en el síndrome de Down: una emergencia afectiva. Rev Ped Elec 2004; 1(1):3-8. [Disponible en: http://www.revistapediatria.cl/vol1num1/pdf/apego.pdf
-
(2004)
Rev Ped Elec
, vol.1
, Issue.1
, pp. 3-8
-
-
Rossel, K.1
-
25
-
-
0001143281
-
Mourning and the birth of a defective child
-
Solnit AJ, Stark MH. Mourning and the birth of a defective child. Psychoanal. Study Chile 1961; 16:526-537.
-
(1961)
Psychoanal. Study Chile
, vol.16
, pp. 526-537
-
-
Solnit, A.J.1
Stark, M.H.2
-
26
-
-
50849145104
-
Programa Español de Salud para personas con Síndrome de Down. Madrid: Ed
-
VV. AA. Programa Español de Salud para personas con Síndrome de Down. Madrid: Ed. FEISD (Federación Española del Síndrome de Down) 2004.
-
(2004)
FEISD (Federación Española del Síndrome de Down)
-
-
VV, A.A.1
-
27
-
-
2042451526
-
Management of Down's syndrome
-
ed, Edimburgo: Churchill Livingstone;, 21d35
-
Newton RW, Newton JA. Management of Down's syndrome. En: David TJ, ed. Recent advances in paediatrics 10. Edimburgo: Churchill Livingstone; 1992. 21d35.
-
(1992)
Recent advances in paediatrics 10
-
-
Newton, R.W.1
Newton, J.A.2
|