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
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
Inglês
| MEDLINE | ID: mdl-29143350
3.
Human Variome Project country nodes: documenting genetic information within a country.
Hum Mutat
; 33(11): 1513-9, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22753370
4.
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
Inglês
| MEDLINE | ID: mdl-23173844
5.
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
Inglês
| MEDLINE | ID: mdl-22328824
6.
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
Inglês
| MEDLINE | ID: mdl-21089065
7.
Toward colorectal cancer control in Africa.
Int J Cancer
; 138(4): 1033-4, 2016 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26355906
8.
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
Inglês
| MEDLINE | ID: mdl-20010362
9.
Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.
Mol Vis
; 14: 2357-66, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-19096719
10.
Neuropsychological task performance in bipolar spectrum illness: genetics, alcohol abuse, medication and childhood trauma.
Bipolar Disord
; 10(4): 479-94, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18452444
11.
Dravet syndrome in South African infants: Tools for an early diagnosis.
Seizure
; 62: 99-105, 2018 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-30321769
12.
Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?
Front Neurol
; 9: 276, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29770117
13.
GSTM1 and GSTT1 polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individuals carrying a single predisposing mutation.
Mutat Res
; 602(1-2): 175-81, 2006 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-17087981
14.
Neurocognitive function as an endophenotype for genetic studies of bipolar affective disorder.
Neuromolecular Med
; 7(4): 275-86, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-16391385
15.
Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease.
Invest Ophthalmol Vis Sci
; 45(6): 1705-11, 2004 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-15161829
16.
Genetic variation in Otos is associated with cisplatin-induced ototoxicity.
Pharmacogenomics
; 15(13): 1667-76, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25410892
17.
Stargardt disease: towards developing a model to predict phenotype.
Eur J Hum Genet
; 21(10): 1173-6, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23695285
18.
Trends in suicidology: personality as an endophenotype for molecular genetic investigations.
PLoS Med
; 3(5): e107, 2006 May.
Artigo
Inglês
| MEDLINE | ID: mdl-16646633
19.
Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.
Arch Ophthalmol
; 127(4): 549-54, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19365039
20.
The relationship between childhood abuse and dissociation. Is it influenced by catechol-O-methyltransferase (COMT) activity?
Int J Neuropsychopharmacol
; 11(2): 149-61, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17608961