Detalhe da pesquisa
1.
Shared genetic risk between major orofacial cleft phenotypes in an African population.
Genet Epidemiol
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634654
2.
Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.
Oral Dis
; 28(7): 1921-1935, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34061439
3.
Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate.
Cleft Palate Craniofac J
; 59(9): 1125-1130, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34459660
4.
Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).
Cleft Palate Craniofac J
; 59(7): 841-851, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382870
5.
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.
Cleft Palate Craniofac J
; : 10556656221135926, 2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384317
6.
Two trisomy 22 live births in one hospital in 15 months: is it as rare as we thought?
Fetal Pediatr Pathol
; 33(1): 35-41, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24093507
7.
Rare Variants Analyses Suggest Novel Cleft Genes in the African Population.
Res Sq
; 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38464065
8.
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.
Mol Genet Genomic Med
; 11(5): e2138, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36811272
9.
Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.
Mol Genet Genomic Med
; 11(10): e2237, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37496383
10.
Investigating the relationship between cancer and orofacial clefts using GWAS significant loci for cancers: A case-control and case-triad study.
Front Oral Health
; 3: 915361, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35990505
11.
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.
Sci Rep
; 12(1): 11743, 2022 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35817949
12.
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.
Mol Genet Genomic Med
; 9(4): e1655, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33719213
13.
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Mol Genet Genomic Med
; 8(8): e1355, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32558391
14.
Direct-to-consumer genetic testing: to test or not to test, that is the question.
S Afr Med J
; 103(8): 510-2, 2013 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23885726