The rise of developmental genetics - a historical account of the fusion of embryology and cell biology with human genetics and the emergence of the Stem Cell Initiative

Autor: Susan H. Kidson, L J Greenberg, Robea Ballo

Publikováno v: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 106(6 Suppl 1)

Genetics and cell biology are very prominent areas of biological research with rapid advances being driven by a flood of theoretical, technological and informational knowledge. Big biology and small biology continue to feed off each other. In this pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9f6aee6be7440319d4d8cee595b80d7
https://pubmed.ncbi.nlm.nih.gov/27245528

Ethnic variation and in vivo effects of the -93t->g promotor variant in the lipoprotein lipase gene

Autor: Ewa Ehrenborg, Michael R. Hayden, Howard E. Henderson, H. J. Davis, Susanne M. Clee, S. E. Gagne, R. Henry, Pascale Benlian, Nagat Bissada, J. J. P. Kastelein, L. J. Greenberg, P.W.A. Reymer, Jose M. Ordovas, Maritha J. Kotze, Simon N. Pimstone, Ernst J. Schaefer, C. F. Hoogendijk, Li Miao

Publikováno v: Arteriosclerosis, thrombosis and vascular biology, 17, 2672-2678. Lippincott Williams & Wilkins
Arteriosclerosis, thrombosis, and vascular biology, 17(11), 2672-2678. Lippincott Williams and Wilkins
Scopus-Elsevier
Karolinska Institutet

Abstract Recently, a (t→g) transition at nucleotide −93 in the lipoprotein lipase (LPL) gene promoter has been observed in Caucasians. Here, we have compared the frequency of the −93g carriers in three distinct populations (Caucasians, South Af

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d914374159367cdadf771078e03384c9
https://hdl.handle.net/11245/1.134975

Cytogenetics at the University of Cape Town: A 45-year journey

Autor: T Ruppelt, L J Greenberg, G Schutte, R D Smart

Publikováno v: South African Medical Journal. 106:29

This article is a brief record of the cytogenetics laboratory from its birth in 1971, under the auspices of the University of Cape Town, throughout its development within the Department of Human Genetics, under the leadership of Professor Peter Beigh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30918c41d5cb1ccfc42c24ffeb1d2187
https://doi.org/10.7196/samj.2016.v106i6.10987

Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy

Autor: Janine Scholefield, Matthew J.A. Wood, Danielle C. Smith, Robea Ballo, L J Greenberg, Susan H. Kidson, Lauren M Watson

Publikováno v: South African Medical Journal. 106:107

Disorders of the nervous system represent a significant proportion of the global burden of non-communicable diseases, due to the trend towards ageing populations. The Department (now Division) of Human Genetics at the University of Cape Town (UCT) ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::897bc2232b2af007d2db91ad77d3e485
https://doi.org/10.7196/samj.2016.v106i6.11010

Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

Autor: A A, Vorster, M T, Rebello, N, Coutts, L, Ehrenreich, A D, Gama, L J, Roberts, R, Goliath, R, Ramesar, L J, Greenberg

Publikováno v: Clinical genetics. 65(1)

Mutations in the RP2 gene account for up to 20% of X-linked recessive retinitis pigmentosa (RP). Arg120stop is to date the most frequently reported mutation found in RP2. Mutation screening was performed during the course of a large screening program

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f022e2907751a197f75b4797f5a74e1d
https://pubmed.ncbi.nlm.nih.gov/15032968