Detalhe da pesquisa
1.
High-density SNP screen of sodium channel genes by haplotype tagging and DNA pooling for association with idiopathic generalized epilepsy.
Epilepsia
; 51(4): 694-8, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20041941
2.
CHRFAM7A copy number and 2-bp deletion polymorphisms and antisaccade performance.
Int J Neuropsychopharmacol
; 12(2): 267-73, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19149910
3.
A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+.
Epilepsia
; 50(4): 937-42, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19054398
4.
The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion.
Eur J Hum Genet
; 16(11): 1364-71, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18545269
5.
Linkage and association analysis of CACNG3 in childhood absence epilepsy.
Eur J Hum Genet
; 15(4): 463-72, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17264864
6.
Linkage disequilibrium analysis of the CHRNA7 gene and its partially duplicated region in schizophrenia.
Neurosci Res
; 57(2): 194-202, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17113175
7.
Genetics of epilepsy: epilepsy research foundation workshop report.
Epileptic Disord
; 9(2): 194-236, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17525034
8.
Evidence that RNA editing modulates splice site selection in the 5-HT2C receptor gene.
Nucleic Acids Res
; 32(7): 2113-22, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15087490
9.
Analysis of rare copy number variation in absence epilepsies.
Neurol Genet
; 2(2): e56, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27123475
10.
The -1438A/G polymorphism in the 5-hydroxytryptamine type 2A receptor gene affects promoter activity.
Biol Psychiatry
; 56(6): 406-10, 2004 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15364038
11.
Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy.
Eur J Hum Genet
; 10(12): 857-64, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12461694
12.
The antidepressant clomipramine regulates cortisol intracellular concentrations and glucocorticoid receptor expression in fibroblasts and rat primary neurones.
Neuropsychopharmacology
; 28(9): 1553-61, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12784111
13.
Antidepressant fluoxetine enhances glucocorticoid receptor function in vitro by modulating membrane steroid transporters.
Br J Pharmacol
; 139(6): 1111-8, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12871829
14.
Do antidepressants regulate how cortisol affects the brain?
Psychoneuroendocrinology
; 29(4): 423-47, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-14749091
15.
Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.
Epilepsy Res
; 49(2): 157-72, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12049804
16.
Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating.
Eur J Hum Genet
; 21(1): 76-81, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22588665
17.
Increased RNA editing in EAAT2 pre-mRNA from amyotrophic lateral sclerosis patients: involvement of a cryptic polyadenylation site.
Neurosci Lett
; 497(2): 139-43, 2011 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-21569822
18.
Is haplotype tagging the panacea to association mapping studies?
Eur J Hum Genet
; 12(4): 259-62, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-14735159
19.
Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.
Genome Biol
; 8(6): R114, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17573966
20.
Risk factors in sudden death in epilepsy (SUDEP): the quest for mechanisms.
Epilepsia
; 48(5): 859-71, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17433051