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Human Leukocyte Antigen-Allelic Variations May Influence the Age at Cancer Diagnosis in Lynch Syndrome.
- Published in:
- Journal of Personalized Medicine, 2024, v. 14, n. 6, p. 575, doi. 10.3390/jpm14060575
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- Article
Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations.
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- Journal of Personalized Medicine, 2024, v. 14, n. 3, p. 323, doi. 10.3390/jpm14030323
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- Publication type:
- Article
The Importance of G Protein-Coupled Receptor Kinase 4 (GRK4) in Pathogenesis of Salt Sensitivity, Salt Sensitive Hypertension and Response to Antihypertensive Treatment.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 3, p. 5741, doi. 10.3390/ijms16035741
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- Article
Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.
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- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1253867
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- Article
The burden of sickle cell disease in Cape Town.
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- SAMJ: South African Medical Journal, 2012, v. 102, n. 9, p. 752, doi. 10.7196/SAMJ.5886
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- Publication type:
- Article
Genetic variation within GRIN2B in adolescents with alcohol use disorder may be associated with larger left posterior cingulate cortex volume.
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- Acta Neuropsychiatrica, 2017, v. 29, n. 4, p. 252, doi. 10.1017/neu.2016.41
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- Article
The Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia Is Associated with Better Hematological Indices and Lower Consultations Rate in Cameroonian Patients and Could Improve Their Survival.
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- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100516
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- Article
Association of Variants at <i>BCL11A</i> and <i>HBS1L-MYB</i> with Hemoglobin F and Hospitalization Rates among Sickle Cell Patients in Cameroon.
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- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092506
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- Article
Determining Ancestry Proportions in Complex Admixture Scenarios in South Africa Using a Novel Proxy Ancestry Selection Method.
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073971
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- Article
Possible involvement of the circadian pathway in alcohol use disorder in a South African adolescent cohort.
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- Metabolic Brain Disease, 2016, v. 31, n. 1, p. 75, doi. 10.1007/s11011-015-9744-3
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- Article
Glutamatergic and HPA-axis pathway genes in bipolar disorder comorbid with alcohol- and substance use disorders.
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- Metabolic Brain Disease, 2016, v. 31, n. 1, p. 183, doi. 10.1007/s11011-015-9762-1
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- Publication type:
- Article
Ethical considerations in forensic genetics research on tissue samples collected post-mortem in Cape Town, South Africa.
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- 2017
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- Publication type:
- journal article
Exploring researchers' experiences of working with a researcher-driven, population-specific community advisory board in a South African schizophrenia genomics study.
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- BMC Medical Ethics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12910-015-0037-5
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- Publication type:
- Article
Exploring researchers’ experiences of working with a researcher-driven, population-specific community advisory board in a South African schizophrenia genomics study.
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- BMC Medical Ethics, 2015, v. 16, n. 1, p. 45, doi. 10.1186/s12910-015-0037-5
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- Publication type:
- Article
Exploring researchers' experiences of working with a researcher-driven, population-specific community advisory board in a South African schizophrenia genomics study.
- Published in:
- 2015
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- Publication type:
- journal article
A comparative cost analysis of two screening strategies for colorectal cancer in Lynch Syndrome in a South African tertiary hospital.
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- Cancer Causes & Control, 2023, v. 34, n. 2, p. 161, doi. 10.1007/s10552-022-01645-z
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- Article
A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
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- Journal of Molecular Medicine, 2001, v. 79, n. 9, p. 536, doi. 10.1007/s001090100275
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- Article
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.
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- Journal of Molecular Medicine, 2000, v. 78, n. 5, p. 282, doi. 10.1007/s001090000114
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- Article
Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports.
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- International Journal of Legal Medicine, 2024, v. 138, n. 2, p. 693, doi. 10.1007/s00414-023-03065-3
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- Article
Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report.
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- International Journal of Legal Medicine, 2020, v. 134, n. 5, p. 1639, doi. 10.1007/s00414-020-02337-6
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- Article
South Africa: from species cradle to genomic applications.
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- 2009
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- Correction Notice
Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics.
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- 2008
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- Publication type:
- Correction Notice
Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics.
- Published in:
- Human Genetics, 2008, v. 123, n. 6, p. 557, doi. 10.1007/s00439-008-0511-y
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- Publication type:
- Article
Pharmacokinetics of rosuvastatin in 30 healthy Zimbabwean individuals of African ancestry.
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- British Journal of Clinical Pharmacology, 2016, v. 82, n. 1, p. 326, doi. 10.1111/bcp.12915
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- Publication type:
- Article
A Scoring Model and Protocol to Adapt Universal Screening for Lynch Syndrome to Identify Germline Pathogenic Variants by Next Generation Sequencing from Colorectal Cancer Patients and Cascade Screening.
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- Cancers, 2022, v. 14, n. 12, p. 2901, doi. 10.3390/cancers14122901
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- Publication type:
- Article
Concordance of genetic variation that increases risk for tourette syndrome and that influences its underlying neurocircuitry.
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- Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0452-3
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- Article
A mutation in a splicing factor that causes retinitis pigmen- tosa has a transcriptome-wide effect on mRNA splicing.
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- BMC Research Notes, 2014, v. 7, n. 1, p. 2, doi. 10.1186/1756-0500-7-401
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- Article
Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases.
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- PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0224023
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- Publication type:
- Article
Psychosocial Stressors of Sickle Cell Disease on Adult Patients in Cameroon.
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- Journal of Genetic Counseling, 2014, v. 23, n. 6, p. 948, doi. 10.1007/s10897-014-9701-z
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- Publication type:
- Article
Psychosocial Burden of Sickle Cell Disease on Parents with an Affected Child in Cameroon.
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- Journal of Genetic Counseling, 2014, v. 23, n. 2, p. 192, doi. 10.1007/s10897-013-9630-2
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- Publication type:
- Article
A Mobile Colonoscopic Unit for Lynch Syndrome: Trends in Surveillance Uptake and Patient Experiences of Screening in a Developing Country.
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- Journal of Genetic Counseling, 2013, v. 22, n. 1, p. 125, doi. 10.1007/s10897-012-9523-9
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- Article
Beyond the Caster Semenya Controversy: The Case of the Use of Genetics for Gender Testing in Sport.
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- Journal of Genetic Counseling, 2010, v. 19, n. 6, p. 545, doi. 10.1007/s10897-010-9320-2
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- Publication type:
- Article
Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.
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- Brain: A Journal of Neurology, 2004, v. 127, n. 1, p. 133, doi. 10.1093/brain/awh009
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- Article
The effect of the BDNF p.Val66Met polymorphism on differential brain volumes, early life adversity and alcohol abuse in adolescents.
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- BMC Psychiatry, 2014, v. 14, n. 1, p. 1, doi. 10.1186/s12888-014-0328-2
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- Article
The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.
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- Molecular Vision, 2020, v. 26, p. 613
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- Publication type:
- Article
From SNP to pathway-based GWAS meta-analysis: do current meta-analysis approaches resolve power and replication in genetic association studies?
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- Briefings in Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1093/bib/bbac600
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- Article
Building Skills and Resources for Genomics, Epigenetics, and Bioinformatics Research for Africa: Report of the Joint 11th Conference of the African Society of Human Genetics and 12th H3Africa Consortium, 2018.
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- American Journal of Tropical Medicine & Hygiene, 2020, v. 102, n. 6, p. 1417, doi. 10.4269/ajtmh.19-0837
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- Article
Developing a Road Map to Spread Genomic Knowledge in Africa: 10th Conference of the African Society of Human Genetics, Cairo, Egypt.
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- American Journal of Tropical Medicine & Hygiene, 2020, v. 102, n. 4, p. 719, doi. 10.4269/ajtmh.19-0408
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- Article
A review of systems biology research of anxiety disorders.
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- Brazilian Journal of Psychiatry / Revista Brasileira de Psiquiatria, 2021, v. 43, n. 4, p. 414, doi. 10.1590/1516-4446-2020-1090
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- Article
Trends in Suicide Mortality in South Africa, 1997 to 2016.
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 6, p. 1850, doi. 10.3390/ijerph17061850
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- Article
The extracolonic cancer spectrum in females with the common ‘South African’ hMLH1 c.C1528T mutation.
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- Familial Cancer, 2008, v. 7, n. 3, p. 191
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- Publication type:
- Article
Coinheritance of sickle cell anemia and α-thalassemia delays disease onset and could improve survival in cameroonian's patients (Sub-Saharan Africa).
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- American Journal of Hematology, 2014, v. 89, n. 6, p. 664, doi. 10.1002/ajh.23711
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- Publication type:
- Article
Genomics: African dawn.
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- Nature, 2015, v. 517, n. 7534, p. 276, doi. 10.1038/nature14077
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- Article
Influence of Genetic Polymorphisms on the Age at Cancer Diagnosis in a Homogenous Lynch Syndrome Cohort of Individuals Carrying the MLH1 :c.1528C>T South African Founder Variant.
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- Biomedicines, 2024, v. 12, n. 10, p. 2201, doi. 10.3390/biomedicines12102201
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- Article
Immunogenomic Biomarkers and Validation in Lynch Syndrome.
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- Cells (2073-4409), 2023, v. 12, n. 3, p. 491, doi. 10.3390/cells12030491
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- Publication type:
- Article
Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.864822
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- Publication type:
- Article
Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00663-9
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- Publication type:
- Article
Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.
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- Human Mutation, 2020, v. 41, n. 11, p. 1871, doi. 10.1002/humu.24094
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- Article
How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010.
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- Human Mutation, 2010, v. 31, n. 12, p. 1374, doi. 10.1002/humu.21379
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- Article
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. E1361, doi. 10.1002/humu.21236
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- Publication type:
- Article