Detalhe da pesquisa
1.
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
Hum Mol Genet
; 24(18): 5250-9, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123493
2.
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Nat Genet
; 39(9): 1127-33, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17704778
3.
Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.
Hum Mol Genet
; 22(15): 2984-91, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23562910
4.
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Hum Mol Genet
; 22(9): 1816-25, 2013 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23376982