Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Heather Seymour"'
Autor:
Fiona Baine-Savanhu, Shelley Macaulay, Nadja Louw, Alanna Bollweg, Kaitlyn Flynn, Mhlekazi Molatoli, Patracia Nevondwe, Heather Seymour, Nadia Carstens, Amanda Krause, Zané Lombard
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Objective: Genetic variants cause a significant portion of developmental disorders and intellectual disabilities (DD/ID), but clinical and genetic heterogeneity makes identification challenging. Compounding the issue is a lack of ethnic diversity in
Externí odkaz:
https://doaj.org/article/a4ef7215b78d4b8ca2fb52db62877449
Autor:
Andrew K. May, Heather Seymour, Harriet Etheredge, Heather Maher, Marta C. Nunes, Shabir A. Madhi, Simiso M. Sokhela, W. D. Francois Venter, Neil Martinson, Firdaus Nabeemeeah, Cheryl Cohen, Jocelyn Moyes, Sibongile Walaza, Stefano Tempia, Jackie Kleynhans, Anne von Gottberg, Jeremy Nel, Halima Dawood, Ebrahim Variava, Stephen Tollman, Kathleen Kahn, Kobus Herbst, Emily B. Wong, Caroline T. Tiemessen, Alex van Blydenstein, Lyle Murray, Michelle Venter, June Fabian, Michéle Ramsay
Publikováno v:
Global Health, Epidemiology and Genomics, Vol 2022 (2022)
Host genetic factors are known to modify the susceptibility, severity, and outcomes of COVID-19 and vary across populations. However, continental Africans are yet to be adequately represented in such studies despite the importance of genetic factors
Externí odkaz:
https://doaj.org/article/7113f2e5f36d4849ab74e83e531752ff
Autor:
Robyn Kerr, Zané Lombard, Patracia Nevondwe, Careni Spencer, Amanda Krause, Candice Feben, Nadia Carstens, Maria Mabyalwa Mudau, Heather Seymour
BackgroundThe timeous and accurate diagnosis of rare genetic disorders is critical, as it enables a better understanding of patient management, prognosis and more personalized treatment. A confirmed genetic diagnosis also enables accurate genetic cou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3f062c4a90aa114f487457710b9dd7d
https://doi.org/10.21203/rs.3.rs-857929/v1
https://doi.org/10.21203/rs.3.rs-857929/v1
Publikováno v:
Annual review of genomics and human genetics. 19
This review highlights molecular genetic studies of monogenic traits where common pathogenic mutations occur in black families from sub-Saharan Africa. Examples of founder mutations have been identified for oculocutaneous albinism, cystic fibrosis, F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::352bf68072a3facd1d20fdca6a2f2866
https://pubmed.ncbi.nlm.nih.gov/30169122
https://pubmed.ncbi.nlm.nih.gov/30169122
Publikováno v:
South African Medical Journal; Vol 106, No 3 (2016); 264-267
SAMJ: South African Medical Journal, Volume: 106, Issue: 3, Pages: 264-267, Published: MAR 2016
SAMJ: South African Medical Journal, Volume: 106, Issue: 3, Pages: 264-267, Published: MAR 2016
Background. Germline pathogenic mutations in cancer susceptibility genes result in inherited cancer syndromes. In the Afrikaner population of South Africa (SA), three founder mutations in the BRCA genes that lead to hereditary breast and ovarian canc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecb8aaf8ed0d1182ff0b231700fb5f4f
https://pubmed.ncbi.nlm.nih.gov/26915939
https://pubmed.ncbi.nlm.nih.gov/26915939
Publikováno v:
Development (Cambridge, England). 135(4)
Recent evidence suggests that stochasticism is important for generating cell type diversity. We have identified a novel stochastic fate choice as part of the mechanism by which Delta/Notch (Dl/N) signaling specifies R7 fate in the Drosophila eye. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78aadc316e36effa920866ab069292db
https://pubmed.ncbi.nlm.nih.gov/18199577
https://pubmed.ncbi.nlm.nih.gov/18199577