Detalhe da pesquisa
1.
Tubulin mutations in human neurodevelopmental disorders.
Semin Cell Dev Biol
; 137: 87-95, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35915025
2.
A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture.
Neurobiol Dis
; 180: 106085, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36933672
3.
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Brain
; 140(10): 2597-2609, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969387
4.
Recurrent KIF2A mutations are responsible for classic lissencephaly.
Neurogenetics
; 18(2): 73-79, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27747449
5.
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
Am J Med Genet A
; 173(3): 706-711, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28168853
6.
A novel recurrent LIS1 splice site mutation in classic lissencephaly.
Am J Med Genet A
; 173(2): 561-564, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27891766
7.
2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.
J Vis Exp
; (181)2022 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35389978
8.
Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.
Eur J Med Genet
; 64(9): 104282, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34284163
9.
Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.
Cell Rep
; 28(6): 1596-1611.e10, 2019 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31390572
10.
Mutations in TBR1 gene leads to cortical malformations and intellectual disability.
Eur J Med Genet
; 61(12): 759-764, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30268909
11.
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Eur J Med Genet
; 61(12): 755-758, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121372
12.
TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.
Eur J Med Genet
; 61(12): 729-732, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758293
13.
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.
Neurol Genet
; 4(6): e281, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30533527
14.
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.
J Neuropathol Exp Neurol
; 76(3): 195-205, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28395088