Detalhe da pesquisa
1.
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Brain
; 146(12): 5086-5097, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977818
2.
Atypical development of Broca's area in a large family with inherited stuttering.
Brain
; 145(3): 1177-1188, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35296891
3.
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia.
Mol Psychiatry
; 26(7): 3004-3017, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057169
4.
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.
Mol Psychiatry
; 24(7): 1065-1078, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29463886
5.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Genet Med
; 21(11): 2532-2542, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036918
6.
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
PLoS Genet
; 9(9): e1003751, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24068947
7.
An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer.
J Pathol
; 229(4): 621-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23208944
8.
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
Dev Med Child Neurol
; 56(4): 346-53, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24117048
9.
PCSK6 is associated with handedness in individuals with dyslexia.
Hum Mol Genet
; 20(3): 608-14, 2011 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21051773
10.
A common variant associated with dyslexia reduces expression of the KIAA0319 gene.
PLoS Genet
; 5(3): e1000436, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19325871
11.
Genetics of developmental dyslexia.
Eur Child Adolesc Psychiatry
; 19(3): 179-97, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20091194
12.
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.
Neurology
; 94(20): e2148-e2167, 2020 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32345733
13.
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
Nat Commun
; 11(1): 3150, 2020 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32561755
14.
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia.
Transl Psychiatry
; 9(1): 77, 2019 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30741946
15.
Genome-wide analyses identify common variants associated with macular telangiectasia type 2.
Nat Genet
; 49(4): 559-567, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28250457
16.
The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure.
PLoS One
; 7(11): e50321, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23209710
17.
Identification of candidate genes for dyslexia susceptibility on chromosome 18.
PLoS One
; 5(10): e13712, 2010 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21060895
18.
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
Biol Psychiatry
; 68(4): 320-8, 2010 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20346443