Detalhe da pesquisa
1.
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Ann Hum Genet
; 83(4): 278-284, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868578
2.
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Hum Mol Genet
; 24(11): 3172-80, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701870
3.
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet
; 24(20): 5697-710, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206890
4.
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Am J Hum Genet
; 95(6): 721-8, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480035
5.
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
Am J Med Genet A
; 167(6): 1396-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899461
6.
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Neurogenetics
; 15(2): 117-27, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24643514
7.
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
Hum Genet
; 133(8): 975-84, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24623383
8.
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
Hum Genet
; 133(11): 1419-29, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25098561
9.
Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.
Sci Rep
; 14(1): 9230, 2024 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38649688
10.
Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.
Genes (Basel)
; 13(9)2022 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140801
11.
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Am J Hum Genet
; 82(4): 1011-8, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18387594
12.
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families.
J Pediatr Genet
; 7(2): 60-66, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29707406
13.
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Am J Hum Genet
; 83(5): 656, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19068953
14.
Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.
Psychiatr Genet
; 26(2): 66-73, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26529358
15.
Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression.
PLoS One
; 9(4): e91742, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24699272
16.
Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder.
Psychiatr Genet
; 24(1): 42-3, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24362370