Detalhe da pesquisa
1.
ADHD-associated PARK2 copy number variants: A pilot study on gene expression and effects of supplementary deprivation in patient-derived cell lines.
Am J Med Genet B Neuropsychiatr Genet
; 189(7-8): 257-270, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971782
2.
[Genetic risk factors and their influence on neural development in autism spectrum disorders]. / Genetische Risikofaktoren und ihre Auswirkungen auf die neurale Entwicklung bei Autismus-Spektrum-Störungen.
Z Kinder Jugendpsychiatr Psychother
; 50(3): 187-202, 2021 May.
Artigo
em Alemão
| MEDLINE | ID: mdl-34128703
3.
Common functional variants of the glutamatergic system in Autism spectrum disorder with high and low intellectual abilities.
J Neural Transm (Vienna)
; 125(2): 259-271, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29147782
4.
Common EIF4E variants modulate risk for autism spectrum disorders in the high-functioning range.
J Neural Transm (Vienna)
; 121(9): 1107-16, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24818597
5.
CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: A model for investigating human ACTB loss-of-function and genetic adaptive responses.
Stem Cell Res
; 77: 103395, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38518401
6.
Interferon regulatory factor 4 plays a pivotal role in the development of aGVHD-associated colitis.
Oncoimmunology
; 13(1): 2296712, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170159
7.
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
Epilepsia Open
; 8(2): 497-508, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896643
8.
The methylome in females with adolescent Conduct Disorder: Neural pathomechanisms and environmental risk factors.
PLoS One
; 17(1): e0261691, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089926
9.
Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment.
Genes (Basel)
; 12(11)2021 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828352
10.
Energy Metabolism Disturbances in Cell Models of PARK2 CNV Carriers with ADHD.
J Clin Med
; 9(12)2020 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353000
11.
Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.
Transl Psychiatry
; 10(1): 215, 2020 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32624584
12.
Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model.
Mol Autism
; 9: 56, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30443311
13.
Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014.
Psychiatr Genet
; 26(1): 1-47, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26565519
14.
Protein signatures of oxidative stress response in a patient specific cell line model for autism.
Mol Autism
; 5(1): 10, 2014 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24512814