Detalhe da pesquisa
1.
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Brain
; 138(Pt 6): 1613-28, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25722288
2.
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Am J Med Genet A
; 164A(11): 2879-86, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25115524
3.
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
JAMA Neurol
; 73(7): 836-845, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159400
4.
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Nat Genet
; 46(5): 510-515, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24705253