Detalhe da pesquisa
1.
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.
Hum Mutat
; 41(11): 1871-1876, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827185
2.
Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations.
J Mol Evol
; 86(6): 395-403, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29987491
3.
A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.
Mol Genet Metab Rep
; 39: 101078, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38571879
4.
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Orphanet J Rare Dis
; 19(1): 15, 2024 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221620
5.
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.
J Clin Pathol
; 75(1): 34-38, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33115810
6.
A case for genomic medicine in South African paediatric patients with neuromuscular disease.
Front Pediatr
; 10: 1033299, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36467485
7.
Increased blood-derived mitochondrial DNA copy number in African ancestry individuals with Parkinson's disease.
Parkinsonism Relat Disord
; 101: 1-5, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35728366
8.
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop.
Hum Mutat
; 36(5): 569-71, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25764011
9.
Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.
Mol Genet Metab
; 101(2-3): 178-82, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20732827
10.
Validation of PHASE for deriving N-acetyltransferase 2 haplotypes in the Western Cape mixed ancestry population.
Afr J Lab Med
; 9(1): 988, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33392048
11.
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
Mol Genet Metab Rep
; 24: 100629, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32742935
12.
Teenaged siblings with progressive neurocognitive disease.
Clin Chem
; 59(8): 1160-4, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23894159
13.
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
EBioMedicine
; 30: 86-93, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29506874
14.
Liddle's syndrome in an African male due to a novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene.
Cardiovasc J Afr
; 28(4): e4-e6, 2017 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29144530
15.
Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease?
S Afr Med J
; 106(3): 234-6, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915934