Detalhe da pesquisa
1.
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
Hum Mol Genet
; 28(7): 1053-1063, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358852
2.
DNA variants and organophosphate neurotoxicity among emerging farmers in the Western Cape of South Africa.
Am J Ind Med
; 61(1): 11-20, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29143350
3.
A genomic portrait of haplotype diversity and signatures of selection in indigenous southern African populations.
PLoS Genet
; 11(3): e1005052, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25811879
4.
Haplotype-based study of the association of alcohol and acetaldehyde-metabolising genes with alcohol dependence (with or without comorbid anxiety symptoms) in a Cape Mixed Ancestry population.
Metab Brain Dis
; 29(2): 333-40, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24567230
5.
Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.
J Genet Couns
; 23(2): 147-55, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24122200
6.
Genomic landscape of colorectal carcinoma in sub-Saharan Africa.
J Clin Pathol
; 76(1): 5-10, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36566025
7.
Human Variome Project country nodes: documenting genetic information within a country.
Hum Mutat
; 33(11): 1513-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753370
8.
PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients.
BMC Med Genet
; 13: 112, 2012 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23173844
9.
Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.
Mol Vis
; 18: 280-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22328824
10.
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.
Hum Mutat
; 32(1): 2-9, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21089065
11.
Toward colorectal cancer control in Africa.
Int J Cancer
; 138(4): 1033-4, 2016 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26355906
12.
Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17.
J Cell Biochem
; 111(3): 735-41, 2010 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20626030
13.
De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.
Genes (Basel)
; 11(7)2020 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32679846
14.
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
Genet Med
; 11(12): 843-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20010362
15.
Neuropsychological status of bipolar I disorder: impact of psychosis.
Br J Psychiatry
; 194(3): 243-51, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19252155
16.
Concordance of genetic variation that increases risk for anxiety disorders and posttraumatic stress disorders and that influences their underlying neurocircuitry.
J Affect Disord
; 245: 885-896, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30699873
17.
Prioritization of candidate disease genes for metabolic syndrome by computational analysis of its defining phenotypes.
Physiol Genomics
; 35(1): 55-64, 2008 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-18612082
18.
Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.
Mol Vis
; 14: 2357-66, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19096719
19.
Hypomanic, cyclothymic and hostile personality traits in bipolar spectrum illness: a family-based study.
J Psychiatr Res
; 42(11): 920-9, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18082182
20.
Neuropsychological task performance in bipolar spectrum illness: genetics, alcohol abuse, medication and childhood trauma.
Bipolar Disord
; 10(4): 479-94, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18452444