Detalhe da pesquisa
1.
A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features.
Am J Hum Genet
; 109(2): 328-344, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077668
2.
All Creatures Great and Small: New Approaches for Understanding Down Syndrome Genetics.
Trends Genet
; 37(5): 444-459, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33097276
3.
Comparative analysis of craniofacial shape in two mouse models of Down syndrome: Ts65Dn and TcMAC21.
J Anat
; 244(6): 1007-1014, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38264931
4.
Increased propensity for infantile spasms and altered neocortical excitation-inhibition balance in a mouse model of down syndrome carrying human chromosome 21.
Neurobiol Dis
; 184: 106198, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37315904
5.
DYRK1A regulates Hap1-Dcaf7/WDR68 binding with implication for delayed growth in Down syndrome.
Proc Natl Acad Sci U S A
; 114(7): E1224-E1233, 2017 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28137862
6.
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.
Hum Mol Genet
; 25(14): 3011-3028, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27340223
7.
The Influence of trisomy 21 on facial form and variability.
Am J Med Genet A
; 173(11): 2861-2872, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28941128
8.
Chronic up-regulation of sonic hedgehog has little effect on postnatal craniofacial morphology of euploid and trisomic mice.
Dev Dyn
; 245(2): 114-22, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26509735
9.
The pattern of congenital heart defects arising from reduced Tbx5 expression is altered in a Down syndrome mouse model.
BMC Dev Biol
; 15: 30, 2015 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26208718
10.
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
Am J Hum Genet
; 91(4): 646-59, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23040494
11.
Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.
Genet Med
; 17(7): 554-60, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25341113
12.
Assessing cognitive improvement in people with Down syndrome: important considerations for drug-efficacy trials.
Handb Exp Pharmacol
; 228: 335-80, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25977089
13.
Size does not always matter: Ts65Dn Down syndrome mice show cerebellum-dependent motor learning deficits that cannot be rescued by postnatal SAG treatment.
J Neurosci
; 33(39): 15408-13, 2013 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24068809
14.
Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice.
Am J Med Genet A
; 164A(8): 1981-1990, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24788405
15.
Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome.
Nature
; 451(7174): 73-5, 2008 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-18172498
16.
Trisomy 21 and facial developmental instability.
Am J Phys Anthropol
; 151(1): 49-57, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23505010
17.
Dysregulated systemic metabolism in a Down syndrome mouse model.
Mol Metab
; 68: 101666, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36587842
18.
Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome.
Dis Model Mech
; 16(4)2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36995257
19.
Hypermetabolism in mice carrying a near complete human chromosome 21.
bioRxiv
; 2023 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778465
20.
Hypermetabolism in mice carrying a near-complete human chromosome 21.
Elife
; 122023 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249575