Detalhe da pesquisa
1.
Global Protein Profiling in Processed Immunohistochemistry Tissue Sections.
Int J Mol Sci
; 24(14)2023 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511068
2.
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
3.
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Hum Genet
; 129(2): 141-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21063731
4.
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
Am J Hum Genet
; 82(5): 1158-64, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18452889
5.
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
Am J Med Genet A
; 155A(8): 1976-80, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21739581
6.
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
Eur J Pediatr
; 169(12): 1535-9, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20661588
7.
Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS.
Eur J Hum Genet
; 28(6): 754-762, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32001840
8.
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
Eur J Hum Genet
; 16(2): 270-3, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18043714
9.
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Eur J Hum Genet
; 16(9): 1029-37, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18398436
10.
MicroRNAs in brain function and disease.
Curr Neurol Neurosci Rep
; 8(3): 190-7, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18541114
11.
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
Eur J Hum Genet
; 15(1): 68-75, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16969374
12.
Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort.
Biol Psychiatry
; 79(5): 383-391, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26444075
13.
A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD.
Psychiatry Res
; 225(3): 268-75, 2015 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25595337
14.
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
Eur J Hum Genet
; 17(1): 125-8, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18781183
15.
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
Am J Hum Genet
; 81(4): 792-8, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17847003