Search Results - "RAMESAR, R"
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Genetics of schizophrenia in the South African Xhosa
Published in Science (American Association for the Advancement of Science) (31-01-2020)“…Africa, the ancestral home of all modern humans, is the most informative continent for understanding the human genome and its contribution to complex disease…”
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2
The molecular genetics of cognition: dopamine, COMT and BDNF
Published in Genes, brain and behavior (01-06-2006)“…The important contribution of genetic factors to the development of cognition and intelligence is widely acknowledged, but identification of these genes has…”
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3
Polygenic risk for schizophrenia and associated brain structural changes: A systematic review
Published in Comprehensive psychiatry (01-01-2019)“…Genome wide association studies (GWAS) of schizophrenia allow the generation of Polygenic Risk Scores (PRS). PRS can be used to determine the contribution to…”
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4
Epigenetics – an introductory overview
Published in South African medical journal (01-06-2019)“…Epigenetics or imprinting refers to the process of ‘chemically’ marking the central A, C, G, T double-stranded DNA code. In the past several decades a deeper…”
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Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families
Published in Clinical genetics (01-05-2015)“…Spondyloepimetaphyseal dysplasia with joint laxity (SEMD‐JL), type 1 is an autosomal recessive disorder which has been identified in more than 30 affected…”
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Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated
Published in South African medical journal (14-12-2020)“…Namaqualand hip dysplasia (NHD) is a mild form of spondyloepiphyseal dysplasia in which progressive arthropathy of the hip joint is a major manifestation. The…”
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7
Promoter region variation in NFE2L2 influences susceptibility to ototoxicity in patients exposed to high cumulative doses of cisplatin
Published in The pharmacogenomics journal (01-12-2017)“…Ototoxicity is a disabling reaction to cisplatin chemotherapy. Much of the inter-individual variability in the development of hearing impairment among…”
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Namaqualand hip dysplasia in South Africa : the molecular determinant elucidated
Published in South African medical journal (01-01-2021)“…Background. Namaqualand hip dysplasia (NHD) is a mild form of spondyloepiphyseal dysplasia in which progressive arthropathy of the hip joint is a major…”
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9
Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome
Published in The New England journal of medicine (11-12-2008)“…This trial tested the influence of aspirin or resistant starch on the incidence of colorectal cancer or colonic adenomas in patients with the Lynch syndrome…”
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10
South African National Cancer Prevention Services
Published in South African journal of surgery (01-03-2024)“…The South African National Cancer Prevention Services (SANCaPS) comprises a group with clinical, epidemiological, and oncological skills, established to fill…”
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11
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia
Published in South African medical journal (01-07-2015)“…Beukes hip dysplasia (BHD) is an autosomal dominant disorder of variable penetrance that was originally identified in a large South African family of European…”
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12
Personality endophenotypes for bipolar affective disorder: a family‐based genetic association analysis
Published in Genes, brain and behavior (01-11-2008)“…Genetic analyses of complex conditions such as bipolar disorder (BD) may be facilitated by the use of intermediate phenotypes. Various personality traits are…”
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13
A 5-year retrospective analysis of infant death at Salt River Mortuary, Cape Town
Published in SAJCH : the South African journal of child health (01-09-2020)“…Background. Infant death is a distressing occurrence and unfortunately remains high in many parts of the world, including South Africa (SA). Despite much…”
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14
Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation
Published in Colorectal disease (01-02-2009)“…Objective Previous studies have shown a benefit for surveillance colonoscopy in heterogeneous groups of subjects with suspected or proven hereditary…”
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15
Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort
Published in Clinical genetics (01-11-2011)“…Hitchins MP, Owens SE, Kwok C‐T, Godsmark G, Algar UF, Ramesar RS. Identification of new cases of early‐onset colorectal cancer with an MLH1 epimutation in an…”
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16
Immunohistochemical determination of mismatch repair gene product in colorectal carcinomas in a young indigenous African cohort
Published in South African journal of surgery (01-03-2022)“…Background: Colorectal cancer (CRC) in the indigenous African population of South Africa is uncommon (age standardised incidence rates of 11.29 for males and…”
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17
New-onset diabetes after transplant: Incidence, risk factors and outcome
Published in South African medical journal (01-09-2017)“…Background. The outcome of renal transplantation depends on achieving effective immunosuppression while minimising the consequences of such treatment. The…”
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G-protein-coupled receptor kinase 4 polymorphisms predict blood pressure response to dietary modification in Black patients with mild-to-moderate hypertension
Published in Journal of human hypertension (01-05-2012)“…Dopamine via G-protein-coupled receptor kinase 4 (GRK-4) regulates sodium (Na) balance in the proximal tubule of the kidney. Single-nucleotide polymorphisms of…”
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Advancing public health genomics in Africa through prospective cohort studies
Published in Journal of epidemiology and community health (1979) (01-07-2010)“…Human genomic studies have revolutionised science in high-income countries through large cohort studies (on the order of 100,000+ participants) which examine a…”
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20
Surgery for colonic cancer in HNPCC: total vs segmental colectomy
Published in Colorectal disease (01-12-2011)“…Aim The high reported risk of metachronous colon cancer (MCC) in hereditary nonpolyposis colorectal cancer (HNPCC) has led some authors to recommend total…”
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