Detalhe da pesquisa
1.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain;
2024 Feb 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38386308
2.
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
PLoS Genet;
18(3): e1010114, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35298461
3.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Brain;
146(11): 4766-4783, 2023 11 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37437211
4.
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Neurobiol Dis;
185: 106259, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37573958
5.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Am J Hum Genet;
107(6): 1170-1177, 2020 12 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33232677
6.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med;
25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36999555
7.
A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice.
Mol Biol Evol;
38(12): 5655-5663, 2021 12 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34464968
8.
Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome.
Int J Mol Sci;
23(19)2022 Sep 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36232804
9.
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Hum Genet;
140(6): 885-896, 2021 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33417013
10.
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Am J Hum Genet;
101(4): 564-577, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28965845
11.
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Proc Natl Acad Sci U S A;
114(44): E9308-E9317, 2017 10 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29078390
12.
The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia.
J Anat;
235(3): 637-650, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31173351
13.
Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons.
Genomics;
110(2): 98-111, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28911974
14.
Nicotinic Acid Adenine Dinucleotide Phosphate (NAADP) and Endolysosomal Two-pore Channels Modulate Membrane Excitability and Stimulus-Secretion Coupling in Mouse Pancreatic ß Cells.
J Biol Chem;
290(35): 21376-92, 2015 Aug 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26152717
15.
De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes.
Life (Basel);
14(2)2024 Feb 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38398753
16.
Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.
Genome Biol;
24(1): 261, 2023 Nov 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37968726
17.
Quantitative Neuroanatomical Phenotyping of the Embryonic Mouse Brain.
Curr Protoc;
2(7): e509, 2022 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35857886
18.
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
Nat Commun;
13(1): 2746, 2022 05 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35585091
19.
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.
Nat Commun;
10(1): 3465, 2019 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31371714
20.
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Nat Commun;
10(1): 2129, 2019 05 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31086189