Detalhe da pesquisa
1.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166480
2.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet
; 97(2): 343-52, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235985
3.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain
; 140(11): 2879-2894, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053855
4.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Hum Mol Genet
; 24(25): 7171-81, 2015 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26443594
5.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature
; 478(7367): 57-63, 2011 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21937992
6.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Am J Hum Genet
; 92(5): 681-95, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23623388
7.
Variants in CUL4B are associated with cerebral malformations.
Hum Mutat
; 36(1): 106-17, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25385192
8.
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
J Med Genet
; 51(7): 487-94, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24812067
9.
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
Front Mol Neurosci
; 8: 85, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26793055
10.
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
Hugo J
; 3(1-4): 41-9, 2009 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21836662
11.
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
Hugo J
; 3(1-4): 83, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20535404