Detalhe da pesquisa
1.
MicroRNA expression and regulation in human, chimpanzee, and macaque brains.
PLoS Genet
; 7(10): e1002327, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22022286
2.
MicroRNA, mRNA, and protein expression link development and aging in human and macaque brain.
Genome Res
; 20(9): 1207-18, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20647238
3.
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
Am J Hum Genet
; 82(5): 1165-70, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18405873
4.
Intergenic and repeat transcription in human, chimpanzee and macaque brains measured by RNA-Seq.
PLoS Comput Biol
; 6: e1000843, 2010 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20617162
5.
Genomic analysis of miRNAs in an extreme mammalian hibernator, the Arctic ground squirrel.
Physiol Genomics
; 42A(1): 39-51, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20442247
6.
Comprehensive survey of human brain microRNA by deep sequencing.
BMC Genomics
; 11: 409, 2010 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20591156
7.
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.
Am J Med Genet A
; 152A(4): 1008-12, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358617
8.
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Hum Mutat
; 30(1): 61-8, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18615734
9.
Sequence features associated with microRNA strand selection in humans and flies.
BMC Genomics
; 10: 413, 2009 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-19732433
10.
Estimating accuracy of RNA-Seq and microarrays with proteomics.
BMC Genomics
; 10: 161, 2009 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-19371429
11.
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
Am J Med Genet A
; 146A(16): 2053-9, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18627065
12.
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
Eur J Hum Genet
; 14(12): 1317-20, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16926859
13.
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.
Eur J Hum Genet
; 13(8): 921-7, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15870826
14.
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
Eur J Hum Genet
; 18(5): 539-43, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19953122
15.
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
16.
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
17.
Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
Ophthalmic Genet
; 29(1): 37-40, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18363172
18.
Mapping translocation breakpoints by next-generation sequencing.
Genome Res
; 18(7): 1143-9, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18326688
19.
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
Am J Med Genet A
; 143(4): 333-7, 2007 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17230488
20.
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
Hum Genet
; 121(3-4): 501-9, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17211639