Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-17704778
2.
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
Am J Med Genet A
; 152A(3): 713-7, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20186809
3.
Evidence that SIZN1 is a candidate X-linked mental retardation gene.
Am J Med Genet A
; 146A(20): 2644-50, 2008 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18798319
4.
A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
Am J Med Genet A
; 138(1): 70-2, 2005 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16097002