Detalhe da pesquisa
1.
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Clin Genet
; 104(4): 491-496, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270786
2.
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
Biotechnol Appl Biochem
; 69(6): 2296-2303, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34826358
3.
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Metab Brain Dis
; 37(1): 243-252, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34719772
4.
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am J Hum Genet
; 101(3): 391-403, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886341
5.
Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
J Pak Med Assoc
; 69(12): 1812-1816, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31853109
6.
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
7.
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet
; 23(15): 4015-23, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24626631
8.
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet
; 23(22): 5940-9, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951542
9.
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Ann Hum Genet
; 80(6): 342-368, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27870114
10.
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
BMC Med Genet
; 17: 10, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26846096
11.
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet
; 22(10): 2055-66, 2013 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23393157
12.
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet
; 90(5): 856-63, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22541562
13.
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
14.
Characterization of rat serum amyloid A4 (SAA4): a novel member of the SAA superfamily.
Biochem Biophys Res Commun
; 450(4): 1643-9, 2014 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044109
15.
A novel single base pair duplication in WDR62 causes primary microcephaly.
BMC Med Genet
; 15: 107, 2014 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25303973
16.
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Nat Genet
; 36(3): 271-6, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14981520
17.
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nat Genet
; 36(6): 602-6, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15122254
18.
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
Am J Hum Genet
; 84(4): 519-23, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19344874
19.
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Brain
; 134(Pt 6): 1839-52, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21576112
20.
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
Am J Med Genet B Neuropsychiatr Genet
; 159B(2): 210-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213695