Detalhe da pesquisa
1.
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Am J Hum Genet
; 94(4): 634-41, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24702957
2.
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Nat Genet
; 40(9): 1065-7, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165920
3.
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Brain
; 138(Pt 6): 1613-28, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25722288
4.
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
PLoS Genet
; 9(10): e1003823, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24098143
5.
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Am J Med Genet A
; 161A(7): 1523-30, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23704059
6.
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
J Med Genet
; 47(2): 81-90, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19546099
7.
Recurrent 16p11.2 microdeletions in autism.
Hum Mol Genet
; 17(4): 628-38, 2008 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18156158
8.
Duplication 16p11.2 in a child with infantile seizure disorder.
Am J Med Genet A
; 152A(6): 1567-74, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503337
9.
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Brain
; 132(Pt 6): 1563-76, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19439424
10.
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
Eur J Pediatr
; 169(4): 475-81, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19838731
11.
Genetics of autism spectrum disorders.
Curr Neurol Neurosci Rep
; 9(3): 188-97, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19348707
12.
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Am J Med Genet A
; 146A(13): 1637-54, 2008 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18536050
13.
Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism.
Am J Med Genet B Neuropsychiatr Genet
; 147B(7): 1116-25, 2008 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18361419
14.
DNannotator: Annotation software tool kit for regional genomic sequences.
Nucleic Acids Res
; 31(13): 3729-35, 2003 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12824405
15.
The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.
J Child Neurol
; 30(14): 1947-53, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26391891
16.
Linkage disequilibrium of the brain-derived neurotrophic factor Val66Met polymorphism in children with a prepubertal and early adolescent bipolar disorder phenotype.
Am J Psychiatry
; 161(9): 1698-700, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15337662
17.
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Eur J Hum Genet
; 22(5): 587-93, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24045845
18.
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Nat Genet
; 44(4): 440-4, S1-2, 2012 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22366783
19.
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Eur J Hum Genet
; 19(12): 1238-45, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21694734
20.
Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Autism Res
; 2(6): 359-64, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20029827