Detalhe da pesquisa
1.
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Nat Genet
; 38(11): 1242-4, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17013395
2.
A Pooled Genome-Wide Association Study of Asperger Syndrome.
PLoS One
; 10(7): e0131202, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26176695
3.
A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study.
PLoS One
; 9(5): e96374, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24801482
4.
Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.
J Clin Endocrinol Metab
; 95(8): 4031-6, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20484477
5.
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
Am J Hum Genet
; 80(5): 982-7, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17436253
6.
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
Am J Hum Genet
; 81(2): 367-74, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17668385
7.
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Am J Hum Genet
; 80(2): 345-52, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17236139
8.
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.
Am J Hum Genet
; 79(6): 1119-24, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17186471
9.
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
Am J Hum Genet
; 75(2): 318-24, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15185169