Detalhe da pesquisa
1.
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.
Hum Mol Genet
; 24(14): 4006-23, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25882707
2.
hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells.
Mol Cell Neurosci
; 68: 244-57, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284979
3.
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Hum Mol Genet
; 21(15): 3513-23, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543975
4.
Generation of an induced pluripotent stem cell line (UMi043-A) from an African American patient with Alzheimer's disease carrying an ABCA7 deletion (p.Arg578Alafs).
Stem Cell Res
; 76: 103364, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38422817
5.
An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.
bioRxiv
; 2023 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292815
6.
An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.
Neurobiol Aging
; 131: 182-195, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37677864
7.
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
NPJ Parkinsons Dis
; 8(1): 84, 2022 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768426
8.
Genetic modifiers of MeCP2 function in Drosophila.
PLoS Genet
; 4(9): e1000179, 2008 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18773074
9.
Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.
Am J Med Genet B Neuropsychiatr Genet
; 156B(4): 493-501, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21480499
10.
Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.
Stem Cell Res
; 52: 102258, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33626494
11.
Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus.
Neurobiol Aging
; 104: 115.e1-115.e7, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33902942
12.
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
Neurogenetics
; 11(3): 291-303, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19921286
13.
Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2.
Autism Res
; 13(4): 523-531, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32064789
14.
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
Ann Hum Genet
; 73(Pt 3): 263-73, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19456320
15.
Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays.
Anal Biochem
; 386(2): 288-90, 2009 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19121619
16.
Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons.
Sci Rep
; 8(1): 8423, 2018 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29849033
17.
Author Correction: Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons.
Sci Rep
; 12(1): 3445, 2022 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35210532
18.
Blood Derived Induced Pluripotent Stem Cells (iPSCs): Benefits, Challenges and the Road Ahead.
J Alzheimers Dis Parkinsonism
; 6(5)2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27882265
19.
SORL1 mutations in early- and late-onset Alzheimer disease.
Neurol Genet
; 2(6): e116, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27822510
20.
ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.
Neurol Genet
; 2(3): e79, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27231719