Detalhe da pesquisa
1.
A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.
Hum Mol Genet
; 27(12): 2138-2153, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659809
2.
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.
Nucleic Acids Res
; 46(10): 4950-4965, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29554304
3.
Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.
Hum Mol Genet
; 24(23): 6736-55, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26376863
4.
Alteration of synaptic network dynamics by the intellectual disability protein PAK3.
J Neurosci
; 32(2): 519-27, 2012 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22238087
5.
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.
Biomedicines
; 10(12)2022 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36551904
6.
Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation.
Am J Med Genet A
; 146A(10): 1267-79, 2008 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18412109
7.
Integrated transcriptional analysis unveils the dynamics of cellular differentiation in the developing mouse hippocampus.
Sci Rep
; 7(1): 18073, 2017 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29273784
8.
Atp6ap2 ablation in adult mice impairs viability through multiple organ deficiencies.
Sci Rep
; 7(1): 9618, 2017 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28851918
9.
Signaling mechanisms regulating synapse formation and function in mental retardation.
Curr Opin Neurobiol
; 20(4): 519-27, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20413294
10.
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Hum Genet
; 118(5): 578-90, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16249884