Detalhe da pesquisa
1.
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.
Am J Hum Genet
; 85(6): 809-22, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20004760
2.
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Am J Hum Genet
; 82(2): 432-43, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252223
3.
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.
Genome Res
; 18(6): 847-58, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18385275
4.
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
Hum Genet
; 121(5): 539-47, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17333282