Published in OMICS on May 02, 2014
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The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. Biochem Biophys Res Commun (2009) 0.99
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Am J Med Genet A (2007) 0.98
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Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population. Int J Pediatr Otorhinolaryngol (2011) 0.95
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating. Hum Mutat (2003) 0.94
Early hearing detection and intervention in South Africa. Int J Pediatr Otorhinolaryngol (2009) 0.90
GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment. J Genet (2009) 0.89
Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models. J Cardiovasc Dis Res (2011) 0.88
Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3. Int J Pediatr Otorhinolaryngol (2012) 0.86
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Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation. Hum Genet (2010) 0.82
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. Am J Med Genet A (2009) 0.82
Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol (2011) 0.78
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Management of neural tube defects in a Sub-Saharan African country: the situation in Yaounde, Cameroon. J Neurol Sci (2008) 1.70
Effect of rifampicin-based antitubercular therapy and the cytochrome P450 2B6 516G>T polymorphism on efavirenz concentrations in adults in South Africa. Antivir Ther (2009) 1.66
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Pharmacogenomic Research in South Africa: Lessons Learned and Future Opportunities in the Rainbow Nation. Curr Pharmacogenomics Person Med (2011) 1.49
Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: implications for the evaluation of patients with unexplained cardiomyopathy. S Afr Med J (2011) 1.27
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Clinical characteristics and outcomes of familial and idiopathic dilated cardiomyopathy in Cape Town: a comparative study of 120 cases followed up over 14 years. S Afr Med J (2011) 1.20
Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana. BMC Genet (2009) 1.00
Genetic polymorphisms of alcohol metabolising enzymes: their role in susceptibility to oesophageal cancer. Clin Chem Lab Med (2008) 0.96
The 341C/T polymorphism in the GSTP1 gene is associated with increased risk of oesophageal cancer. BMC Genet (2010) 0.95
Cytochrome P450 pharmacogenetics in African populations: implications for public health. Expert Opin Drug Metab Toxicol (2014) 0.94
Beta-globin gene haplotypes among cameroonians and review of the global distribution: is there a case for a single sickle mutation origin in Africa? OMICS (2015) 0.94
Association of cytochrome P450 2E1 genetic polymorphisms with squamous cell carcinoma of the oesophagus. Clin Chem Lab Med (2005) 0.92
Mitochondrial DNA subhaplogroups L0a2 and L2a modify susceptibility to peripheral neuropathy in malawian adults on stavudine containing highly active antiretroviral therapy. J Acquir Immune Defic Syndr (2013) 0.92
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. BMC Med Genet (2013) 0.90
Acceptance of abortion by doctors and medical students in Cameroon. Lancet (2007) 0.90
ABCB1 4036A>G and 1236C>T Polymorphisms Affect Plasma Efavirenz Levels in South African HIV/AIDS Patients. Front Genet (2012) 0.89
Absence seizures associated with efavirenz initiation. Pediatr Infect Dis J (2011) 0.89
The African-specific CYP2D617 allele encodes an enzyme with changed substrate specificity. Clin Pharmacol Ther (2002) 0.89
PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients. BMC Med Genet (2012) 0.89
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Fas and FasL gene polymorphisms are not associated with cervical cancer but differ among Black and Mixed-ancestry South Africans. BMC Res Notes (2009) 0.88
CCR2-V64I polymorphism is associated with increased risk of cervical cancer but not with HPV infection or pre-cancerous lesions in African women. BMC Cancer (2010) 0.87
UCT's contribution to medical genetics in Africa - from the past into the future. S Afr Med J (2012) 0.84
High predictive value of CYP2B6 SNPs for steady-state plasma efavirenz levels in South African HIV/AIDS patients. Pharmacogenet Genomics (2013) 0.84
Biomedical research, a tool to address the health issues that affect African populations. Global Health (2013) 0.83
Translating biotechnology to knowledge-based innovation, peace, and development? Deploy a Science Peace Corps--an open letter to world leaders. OMICS (2014) 0.82
Prenatal diagnosis and termination of pregnancy: perspectives of South African parents of children with Down syndrome. J Community Genet (2012) 0.82
A Fas gene polymorphism influences herpes simplex virus type 2 infection in South African women. J Med Virol (2010) 0.82
Initiation of prenatal genetic diagnosis of sickle cell anaemia in Cameroon (sub-Saharan Africa). Prenat Diagn (2011) 0.81
A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease. Expert Rev Hematol (2015) 0.80
Urethral duplication in a 12-year-old child. Afr J Paediatr Surg (2012) 0.79
CASP8 promoter polymorphism is associated with high-risk HPV types and abnormal cytology but not with cervical cancer. J Med Virol (2011) 0.78
Stroke may appear to be rare in Saudi-Arabian and Nigerian children with sickle cell disease, but not in Cameroonian sickle cell patients. Br J Haematol (2006) 0.78
Prenatal diagnosis may represent a point of entry of genetic science in sub-Saharan Africa: a survey on the attitudes of medical students and physicians from Cameroon. Prenat Diagn (2006) 0.77
CCR2, CX3CR1, RANTES and SDF1 genetic polymorphisms influence HIV infection in a Zimbabwean pediatric population. J Infect Dev Ctries (2014) 0.77
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. Eur J Med Genet (2013) 0.77
Mitochondrial subhaplogroups and differential risk of stavudine-induced lipodystrophy in Malawian HIV/AIDS patients. Pharmacogenomics (2013) 0.76
How does mother-to-child transmission of HIV differ among African populations? Lessons from MBL2 genetic variation in Zimbabweans. OMICS (2014) 0.76
Report on the 6th African Society of Human Genetics (AfSHG) Meeting, March 12-15, 2009, Yaounde, Cameroon. Am J Trop Med Hyg (2010) 0.75
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop. Hum Mutat (2015) 0.75
Fibrodysplasia ossificans progressiva in South Africa: difficulties in management in a developing country. J Clin Rheumatol (2011) 0.75