Search details
1.
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
Hum Mutat
; 40(10): 1781-1796, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31112363
2.
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Hum Mutat
; 39(5): 593-620, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29446198
3.
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
J Med Genet
; 53(12): 800-811, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27595995
4.
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
PLoS Genet
; 10(4): e1004256, 2014 04.
Article
in English
| MEDLINE | ID: mdl-24698998
5.
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
PLoS Genet
; 9(3): e1003173, 2013.
Article
in English
| MEDLINE | ID: mdl-23544012
6.
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
PLoS Genet
; 9(3): e1003212, 2013.
Article
in English
| MEDLINE | ID: mdl-23544013
7.
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Breast Cancer Res
; 17: 61, 2015 Apr 25.
Article
in English
| MEDLINE | ID: mdl-25925750
8.
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 16(6): 3416, 2014 Dec 31.
Article
in English
| MEDLINE | ID: mdl-25919761
9.
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
J Med Genet
; 49(8): 525-32, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22889855
10.
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans.
Proc Natl Acad Sci U S A
; 106(39): 16746-51, 2009 Sep 29.
Article
in English
| MEDLINE | ID: mdl-19805367
11.
Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
Sci Rep
; 12(1): 802, 2022 01 17.
Article
in English
| MEDLINE | ID: mdl-35039564
12.
Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation.
Breast Cancer Res Treat
; 125(2): 325-49, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-20232141
13.
Maternal characteristics and pregnancy outcomes of hospitalized pregnant women with SARS-CoV-2 infection in South Africa: An International Network of Obstetric Survey Systems-based cohort study.
Int J Gynaecol Obstet
; 155(3): 455-465, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34499750
14.
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
J Natl Cancer Inst
; 108(2)2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26586665
15.
Expression of the Genes Encoding the Trk and Kdp Potassium Transport Systems of Mycobacterium tuberculosis during Growth In Vitro.
Biomed Res Int
; 2015: 608682, 2015.
Article
in English
| MEDLINE | ID: mdl-26351637
16.
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Cancer Epidemiol Biomarkers Prev
; 24(1): 308-16, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25336561
17.
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Nat Genet
; 47(2): 164-71, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25581431
18.
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation.
Am J Med Genet A
; 146A(10): 1350-3, 2008 May 15.
Article
in English
| MEDLINE | ID: mdl-18412120
19.
PALB2 sequence variants in young South African breast cancer patients.
Fam Cancer
; 8(4): 347-53, 2009.
Article
in English
| MEDLINE | ID: mdl-19333784
20.
A possible role of the cytochrome P450c17alpha gene (CYP17) polymorphism in the pathobiology of uterine leiomyomas from black South African women: a pilot study.
Acta Obstet Gynecol Scand
; 83(3): 234-9, 2004 Mar.
Article
in English
| MEDLINE | ID: mdl-14995917