-
1
-
-
33646171446
-
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
-
DOI 10.1038/nature04678, PII N04678
-
Arron JR, Winslow MM, Polleri A, Chang CP, Wu H, Gao X, Neilson JR, Chen L, Heit JJ, Kim SK, Yamasaki N, Miyakawa T, Francke U, Graef IA, Crabtree GR. 2006. NFAT dysregulation by increased dosage of DSCR1 and DY RK1A on chromosome 21. Nature 441: 595-600. (Pubitemid 43927286)
-
(2006)
Nature
, vol.441
, Issue.7093
, pp. 595-600
-
-
Arron, J.R.1
Winslow, M.M.2
Polleri, A.3
Chang, C.-P.4
Wu, H.5
Gao, X.6
Neilson, J.R.7
Chen, L.8
Heit, J.J.9
Kim, S.K.10
Yamasaki, N.11
Miyakawa, T.12
Francke, U.13
Graef, I.A.14
Crabtree, G.R.15
-
2
-
-
0033978891
-
Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse
-
Baxter LL, Moran TH, Richtsmeier JT, Troncoso J, Reeves RH. 2000. Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse. Hum Mol Genet 9: 195-202. (Pubitemid 30052743)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.2
, pp. 195-202
-
-
Baxter, L.L.1
Moran, T.H.2
Richtsmeier, J.T.3
Troncoso, J.4
Reeves, R.H.5
-
3
-
-
0027500565
-
Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase
-
Bowes C, Li T, Frankel WN, Danciger M, Coffin JM, Applebury ML, Farber DB. 1993. Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase. Proc Natl Acad SciUS A 90:2955-2959. (Pubitemid 23113536)
-
(1993)
Proceedings of the National Academy of Sciences of the United States of America
, vol.90
, Issue.7
, pp. 2955-2959
-
-
Bowes, C.1
Li, T.2
Frankel, W.N.3
Danciger, M.4
Coffin, J.M.5
Applebury, M.L.6
Farber, D.B.7
-
4
-
-
33748089332
-
Ultrasound diagnosis of mouse pregnancy and gestational staging
-
Brown SD, Zurakowski D, Rodriguez DP, Dunning PS, Hurley RJ, Taylor GA. 2006. Ultrasound diagnosis of mouse pregnancy and gestational staging. Comp Med 56:262-271. (Pubitemid 44299967)
-
(2006)
Comparative Medicine
, vol.56
, Issue.4
, pp. 262-271
-
-
Brown, S.D.1
Zurakowski, D.2
Rodriguez, D.P.3
Dunning, P.S.4
Hurley, R.J.5
Taylor, G.A.6
-
5
-
-
32544458799
-
Improved national prevalence estimates for 18 selected major birth defects - United States, 1999-2001
-
Centers for Disease Control and Prevention
-
Centers for Disease Control and Prevention. 2006. Improved national prevalence estimates for 18 selected major birth defects - United States, 1999-2001. MMWR Morb Mortal Wkly Rep 54: 1301-1305.
-
(2006)
MMWR Morb Mortal Wkly Rep
, vol.54
, pp. 1301-1305
-
-
-
6
-
-
35548970343
-
Defects in embryonic neurogenesis and initial synapse formation in the forebrain of the Ts65Dn mouse model of Down syndrome
-
DOI 10.1523/JNEUROSCI.3406-07.2007
-
Chakrabarti L, Galdzicki Z, Haydar TF. 2007. Defects in embryonic neurogenesis and initial synapse formation in the forebrain of the Ts65Dn mouse model of Down syndrome. J Neurosci 27:11483-11495. (Pubitemid 350006912)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.43
, pp. 11483-11495
-
-
Chakrabarti, L.1
Galdzicki, Z.2
Haydar, T.F.3
-
9
-
-
34848817445
-
Congenital defects among liveborn infants with Down syndrome
-
DOI 10.1002/bdra.20393
-
Cleves MA, Hobbs CA, Cleves PA, Tilford JM, Bird TM, Robbins JM. 2007. Congenital defects among liveborn infants with Down syndrome. Birth Defects Res A Clin Mol Teratol 79:657-663. (Pubitemid 47502792)
-
(2007)
Birth Defects Research Part a - Clinical and Molecular Teratology
, vol.79
, Issue.9
, pp. 657-663
-
-
Cleves, M.A.1
Hobbs, C.A.2
Cleves, P.A.3
Tilford, J.M.4
Bird, T.M.5
Robbins, J.M.6
-
10
-
-
34548102066
-
Cell cycle alteration and decreased cell proliferation in the hippocampal dentate gyrus and in the neocortical germinal matrix of fetuses with down syndrome and in Ts65Dn mice
-
DOI 10.1002/hipo.20308
-
Contestabile A, Fila T, Ceccarelli C, Bonasoni P, Bonapace L, Santini D, Bartesaghi R, Ciani E. 2007. Cell cycle alteration and decreased cell proliferation in the hippocampal dentate gyrus and in the neocortical germinal matrix of fetuses with Down syndrome and in Ts65Dn mice. Hippocampus 17:665-678. (Pubitemid 47292037)
-
(2007)
Hippocampus
, vol.17
, Issue.8
, pp. 665-678
-
-
Contestabile, A.1
Fila, T.2
Ceccarelli, C.3
Bonasoni, P.4
Bonapace, L.5
Santini, D.6
Bartesaghi, R.7
Ciani, E.8
-
11
-
-
62449201452
-
Widespread impairment of cell proliferation in the neonate Ts65Dn mouse, a model for Down syndrome
-
Contestabile A, Fila T, Cappellini A, Bartesaghi R, Ciani E. 2009. Widespread impairment of cell proliferation in the neonate Ts65Dn mouse, a model for Down syndrome. Cell Prolif 42:171-181.
-
(2009)
Cell Prolif
, vol.42
, pp. 171-181
-
-
Contestabile, A.1
Fila, T.2
Cappellini, A.3
Bartesaghi, R.4
Ciani, E.5
-
12
-
-
0035037210
-
Anxiety-related behaviors in the elevated zero-maze are affected by genetic factors and retinal degeneration
-
DOI 10.1037//0735-7044.115.2.468
-
Cook MN, Williams RW, Flaherty L. 2001. Anxiety-related behaviors in the elevated zero-maze are affected by genetic factors and retinal degeneration. Behav Neurosci 115:468-476. (Pubitemid 32378175)
-
(2001)
Behavioral Neuroscience
, vol.115
, Issue.2
, pp. 468-476
-
-
Cook, M.N.1
Williams, R.W.2
Flaherty, L.3
-
13
-
-
70350211447
-
Behavioral validation of the Ts65Dn mouse model for Down syndrome of a genetic background free of the retinal degeneration mutation Pde6b(rd1)
-
Costa AC, Stasko MR, Schmidt C, Davisson MT. 2010. Behavioral validation of the Ts65Dn mouse model for Down syndrome of a genetic background free of the retinal degeneration mutation Pde6b(rd1). Behav Brain Res 206: 52-62.
-
(2010)
Behav Brain Res
, vol.206
, pp. 52-62
-
-
Costa, A.C.1
Stasko, M.R.2
Schmidt, C.3
Davisson, M.T.4
-
14
-
-
67149115401
-
Clinical practice Prenatal screening for aneuploidy
-
Driscoll DA, Gross S. 2009. Clinical practice. Prenatal screening for aneuploidy. N Engl J Med 360:2556-2562.
-
(2009)
N Engl J Med
, vol.360
, pp. 2556-2562
-
-
Driscoll, D.A.1
Gross, S.2
-
15
-
-
0000521855
-
Down Syndrome (Trisomy 21)
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
-
Epstein CJ. 2001. Down Syndrome (Trisomy 21). In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 1223-1256.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1223-1256
-
-
Epstein, C.J.1
-
16
-
-
0038721220
-
H1 linker histones are essential for mouse development and affect nucleosome spacing in vivo
-
DOI 10.1128/MCB.23.13.4559-4572.2003
-
Fan Y, Nikitina T, Morin-Kensicki EM, Zhao J, Magnuson TR, Woodcock CL, Skoultchi AI. 2003. H1 linker histones are essential for mouse development and affect nucleosome spacing in vivo. Mol Cell Biol 23:4559-4572. (Pubitemid 36734746)
-
(2003)
Molecular and Cellular Biology
, vol.23
, Issue.13
, pp. 4559-4572
-
-
Fan, Y.1
Nikitina, T.2
Morin-Kensicki, E.M.3
Zhao, J.4
Magnuson, T.R.5
Woodcock, C.L.6
Skoultchi, A.I.7
-
17
-
-
0242348738
-
Mouse models of Down syndrome: How useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions
-
DOI 10.1016/S0378-1119(03)00769-8
-
Gardiner K, Fortna A, Bechtel L, Davisson MT. 2003. Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions. Gene 318: 137-147. (Pubitemid 37338399)
-
(2003)
Gene
, vol.318
, Issue.1-2
, pp. 137-147
-
-
Gardiner, K.1
Fortna, A.2
Bechtel, L.3
Davisson, M.T.4
-
18
-
-
33644820338
-
Biometry of face and brain in fetuses with trisomy 21
-
DOI 10.1203/01.pdr.0000190580.88391.9a, PII 0000645020060100000009
-
Guihard-Costa AM, Khung S, Delbecque K, Menez F, Delezoide AL. 2006. Biometry of face and brain in fetuses with trisomy 21. Pediatr Res 59:33-38. (Pubitemid 43754451)
-
(2006)
Pediatric Research
, vol.59
, Issue.1
, pp. 33-38
-
-
Guihard-Costa, A.-M.1
Khung, S.2
Delbecque, K.3
Menez, F.4
Delezoide, A.-L.5
-
20
-
-
52049125697
-
"Sighted C3H" mice - A tool for analysing the influence of vision on mouse behaviour?
-
Hoelter SM, Dalke C, Kallnik M, Becker L, Horsch M, Schrewe A, Favor J, Klopstock T, Beckers J, Ivandic B, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Graw J, Wurst W. 2008. "Sighted C3H" mice - a tool for analysing the influence of vision on mouse behaviour? Front Biosci 13:5810-5823.
-
(2008)
Front Biosci
, vol.13
, pp. 5810-5823
-
-
Hoelter, S.M.1
Dalke, C.2
Kallnik, M.3
Becker, L.4
Horsch, M.5
Schrewe, A.6
Favor, J.7
Klopstock, T.8
Beckers, J.9
Ivandic, B.10
Gailus-Durner, V.11
Fuchs, H.12
De Hrabe Angelis, M.13
Graw, J.14
Wurst, W.15
-
21
-
-
10544243361
-
Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome
-
DOI 10.1073/pnas.93.23.13333
-
Holtzman DM, Santucci D, Kilbridge J, Chua-Couzens J, Fontana DJ, Daniels SE, Johnson RM, Chen K, Sun Y, Carlson E, Alleva E, Epstein CJ, Mobley WC. 1996. Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome. Proc Natl Acad Sci USA 93:13333-13338. (Pubitemid 26382816)
-
(1996)
Proceedings of the National Academy of Sciences of the United States of America
, vol.93
, Issue.23
, pp. 13333-13338
-
-
Holtzman, D.M.1
Santucci, D.2
Kilbridge, J.3
Chua-Couzens, J.4
Fontana, D.J.5
Daniels, S.E.6
Johnson, R.M.7
Chen, K.8
Sun, Y.9
Carlson, E.10
Alleva, E.11
Epstein, C.J.12
Mobley, W.C.13
-
24
-
-
0034042244
-
Survival of infants born with Down's syndrome: 1980-96
-
DOI 10.1046/j.1365-3016.2000.00252.x
-
Leonard S, Bower C, Petterson B, Leonard H. 2000. Survival of infants born with Down's syndrome: 1980-96. Paediatr Perinat Epidemiol 14:163-171. (Pubitemid 30199252)
-
(2000)
Paediatric and Perinatal Epidemiology
, vol.14
, Issue.2
, pp. 163-171
-
-
Leonard, S.1
Bower, C.2
Petterson, B.3
Leonard, H.4
-
25
-
-
77449110704
-
PCR prescreen for genotyping the Ts65Dn mouse model of Down syndrome
-
Lorenzi H, Duvall N, Cherry SM, Reeves RH, Roper RJ. 2010. PCR prescreen for genotyping the Ts65Dn mouse model of Down syndrome. Biotechniques 48: 35-38.
-
(2010)
Biotechniques
, vol.48
, pp. 35-38
-
-
Lorenzi, H.1
Duvall, N.2
Cherry, S.M.3
Reeves, R.H.4
Roper, R.J.5
-
26
-
-
33749576059
-
Postnatal lethality and cardiac anomalies in the Ts65Dn Down syndrome mouse model
-
DOI 10.1007/s00335-006-0032-8
-
Moore CS. 2006. Postnatal lethality and cardiac anomalies in the Ts65Dn Down syndrome mouse model. Mamm Genome 17:1005-1012. (Pubitemid 44537042)
-
(2006)
Mammalian Genome
, vol.17
, Issue.10
, pp. 1005-1012
-
-
Moore, C.S.1
-
27
-
-
34548431071
-
The power of comparative and developmental studies for mouse models of Down syndrome
-
DOI 10.1007/s00335-007-9030-8
-
Moore CS, Roper RJ. 2007. The power of comparative and developmental studies for mouse models of Down syndrome. Mamm Genome 18:431-443. (Pubitemid 47360417)
-
(2007)
Mammalian Genome
, vol.18
, Issue.6-7
, pp. 431-443
-
-
Moore, C.S.1
Roper, R.J.2
-
28
-
-
0033166749
-
Integration of cytogenetic with recombinational and physical maps of mouse chromosome 16
-
DOI 10.1006/geno.1999.5812
-
Moore CS, Lee JS, Birren B, Stetten G, Baxter LL, Reeves RH. 1999. Integration of cytogenetic with recombinational and physical maps of mouse chromosome 16. Genomics 59:1-5. (Pubitemid 29339866)
-
(1999)
Genomics
, vol.59
, Issue.1
, pp. 1-5
-
-
Moore, C.S.1
Lee, J.S.2
Birren, B.3
Stetten, G.4
Baxter, L.L.5
Reeves, R.H.6
-
30
-
-
51249118741
-
In vivo quantification of embryonic and placental growth during gestation in mice using micro-ultrasound
-
Mu J, Slevin JC, Qu D, McCormick S, Adamson SL. 2008. In vivo quantification of embryonic and placental growth during gestation in mice using micro-ultrasound. Reprod Biol Endocrinol 6:34.
-
(2008)
Reprod Biol Endocrinol
, vol.6
, pp. 34
-
-
Mu, J.1
Slevin, J.C.2
Qu, D.3
McCormick, S.4
Adamson, S.L.5
-
31
-
-
0042025827
-
Down's syndrome: A genetic disorder in biobehavioral perspective
-
DOI 10.1034/j.1601-183X.2003.00026.x
-
Nadel L. 2003. Down's syndrome: a genetic disorder in biobehavioral perspective. Genes Brain Behav 2:156-166. (Pubitemid 36898802)
-
(2003)
Genes, Brain and Behavior
, vol.2
, Issue.3
, pp. 156-166
-
-
Nadel, L.1
-
32
-
-
67651124806
-
Molecular genetic analysis of Down syndrome
-
Patterson D. 2009. Molecular genetic analysis of Down syndrome. Hum Genet 126:195-214.
-
(2009)
Hum Genet
, vol.126
, pp. 195-214
-
-
Patterson, D.1
-
33
-
-
0035140986
-
16 translocation chromosome from Ts65Dn females
-
DOI 10.1007/s003350010225
-
Paz-Miguel JE, Pardo-Manuel de Villena F, Sanchez-Velasco P, Leyva-Cobian F. 2001. H2-haplotype-dependent unequal transmission of the 17(16) translocation chromosome from Ts65Dn females. Mamm Genome 12:83-85. (Pubitemid 32127976)
-
(2001)
Mammalian Genome
, vol.12
, Issue.1
, pp. 83-85
-
-
Paz-Miguel, J.E.1
Pardo-Manuel De Villena, F.2
Sanchez-Velasco, P.3
Leyva-Cobian, F.4
-
34
-
-
0034809935
-
Neuroanatomy of Down's syndrome: A high-resolution MRI study
-
DOI 10.1176/appi.ajp.158.10.1659
-
Pinter JD, Eliez S, Schmitt JE, Capone GT, Reiss AL. 2001. Neuroanatomy of Down's syndrome: a high-resolution MRI study. AmJ Psychiatry 158:1659-1665. (Pubitemid 32923659)
-
(2001)
American Journal of Psychiatry
, vol.158
, Issue.10
, pp. 1659-1665
-
-
Pinter, J.D.1
Eliez, S.2
Schmitt, J.E.3
Capone, G.T.4
Reiss, A.L.5
-
35
-
-
0029114706
-
A mouse model for Down syndrome exhibits learning and behaviour deficits
-
Reeves RH, Irving NG, Moran TH, Wohn A, Kitt C, Sisodia SS, Schmidt C, Bronson RT, Davisson MT. 1995. A mouse model for Down syndrome exhibits learning and behaviour deficits. Nat Genet 11:177-184.
-
(1995)
Nat Genet
, vol.11
, pp. 177-184
-
-
Reeves, R.H.1
Irving, N.G.2
Moran, T.H.3
Wohn, A.4
Kitt, C.5
Sisodia, S.S.6
Schmidt, C.7
Bronson, R.T.8
Davisson, M.T.9
-
36
-
-
33645789057
-
Understanding the basis for Down syndrome phenotypes
-
Roper RJ, Reeves RH. 2006. Understanding the basis for Down syndrome phenotypes. PLoS Genet 2:e50.
-
(2006)
PLoS Genet
, vol.2
-
-
Roper, R.J.1
Reeves, R.H.2
-
37
-
-
33644781665
-
Perinatal loss of Ts65Dn Down syndrome mice
-
DOI 10.1534/genetics.105.050898
-
Roper RJ, St John HK, Philip J, Lawler A, Reeves RH. 2006. Perinatal loss of Ts65Dn Down syndrome mice. Genetics 172:437-443. (Pubitemid 43345504)
-
(2006)
Genetics
, vol.172
, Issue.1
, pp. 437-443
-
-
Roper, R.J.1
St John, H.K.2
Philip, J.3
Lawler, A.4
Reeves, R.H.5
-
38
-
-
59849119800
-
A neural crest deficit in Down syndrome mice is associated with deficient mitotic response to Sonic hedgehog
-
Roper RJ, VanHorn JF, Cain CC, Reeves RH. 2009. A neural crest deficit in Down syndrome mice is associated with deficient mitotic response to Sonic hedgehog. Mech Dev 126:212-219.
-
(2009)
Mech Dev
, vol.126
, pp. 212-219
-
-
Roper, R.J.1
VanHorn, J.F.2
Cain, C.C.3
Reeves, R.H.4
-
39
-
-
61549111269
-
Health of children 3 to 17 years of age with Down syndrome in the 1997-2005 national health interview survey
-
Schieve LA, Boulet SL, Boyle C, Rasmussen SA, Schendel D. 2009. Health of children 3 to 17 years of age with Down syndrome in the 1997-2005 national health interview survey. Pediatrics 123: e253-260.
-
(2009)
Pediatrics
, vol.123
-
-
Schieve, L.A.1
Boulet, S.L.2
Boyle, C.3
Rasmussen, S.A.4
Schendel, D.5
-
41
-
-
0034810253
-
What is the true fetal loss rate in pregnancies affected by trisomy 21 and how does this influence whether first trimester detection rates are superior to those in the second trimester?
-
Spencer K. 2001. What is the true fetal loss rate in pregnancies affected by trisomy 21 and how does this influence whether first trimester detection rates are superior to those in the second trimester? Prenat Diagn 21:788-789.
-
(2001)
Prenat Diagn
, vol.21
, pp. 788-789
-
-
Spencer, K.1
-
42
-
-
30144441812
-
Part I: Clinical practice guidelines for children with Down syndrome from birth to 12 years
-
DOI 10.1016/j.pedhc.2005.10.004, PII S0891524505003895
-
Van Cleve SN, Cohen WI. 2006. Part I: clinical practice guidelines for children with Down syndrome from birth to 12 years. J Pediatr Health Care 20:47-54. (Pubitemid 43052691)
-
(2006)
Journal of Pediatric Health Care
, vol.20
, Issue.1
, pp. 47-54
-
-
Van Cleve, S.N.1
Cohen, W.I.2
-
43
-
-
33646163221
-
Part II: Clinical Practice Guidelines for Adolescents and Young Adults with Down Syndrome: 12 to 21 Years
-
DOI 10.1016/j.pedhc.2006.02.006, PII S0891524506001416
-
Van Cleve SN, Cannon S, Cohen WI. 2006. Part II: Clinical Practice Guidelines for adolescents and young adults with Down Syndrome: 12 to 21 Years. J Pediatr Health Care 20:198-205. (Pubitemid 43637049)
-
(2006)
Journal of Pediatric Health Care
, vol.20
, Issue.3
, pp. 198-205
-
-
Van Cleve, S.N.1
Cannon, S.2
Cohen, W.I.3
-
44
-
-
33745035951
-
Motor development and neuropsychological patterns in persons with Down syndrome
-
DOI 10.1007/s10519-006-9057-8
-
Vicari S. 2006. Motor development and neuropsychological patterns in persons with Down syndrome. Behav Genet 36: 355-364. (Pubitemid 43876775)
-
(2006)
Behavior Genetics
, vol.36
, Issue.3
, pp. 355-364
-
-
Vicari, S.1
-
45
-
-
37249023635
-
Prevalence, Neonatal Characteristics, and First-Year Mortality of Down Syndrome: A National Study
-
DOI 10.1016/j.jpeds.2007.09.045, PII S0022347607008955
-
Weijerman ME, van Furth AM, Vonk Noordegraaf A, van Wouwe JP, Broers CJ, Gemke RJ. 2008. Prevalence, neonatal characteristics, and first-year mortality of Down syndrome: a national study. J Pediatr 152:15-19. (Pubitemid 350265948)
-
(2008)
Journal of Pediatrics
, vol.152
, Issue.1
, pp. 15-19
-
-
Weijerman, M.E.1
Van Furth, A.M.2
Vonk Noordegraaf, A.3
Van Wouwe, J.P.4
Broers, C.J.M.5
Gemke, R.J.B.J.6
-
46
-
-
39749134383
-
Characterization of the cardiac phenotype in neonatal Ts65Dn mice
-
Williams AD, Mjaatvedt CH, Moore CS. 2008. Characterization of the cardiac phenotype in neonatal Ts65Dn mice. Dev Dyn 237:426-435.
-
(2008)
Dev Dyn
, vol.237
, pp. 426-435
-
-
Williams, A.D.1
Mjaatvedt, C.H.2
Moore, C.S.3
|