Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Nadia, Carstens"'
Autor:
Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krause
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of ∼1/3,000. It is characteriszed by numerous café-au-lait macules, skin freckling in t
Externí odkaz:
https://doaj.org/article/829aa2fc37e1447ea60602e3bd4756b6
Autor:
Nadja Louw, Nadia Carstens, Zané Lombard, for DDD-Africa as members of the H3Africa Consortium
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy number variants (CNVs) in coding exonic regions of the genome in a sing
Externí odkaz:
https://doaj.org/article/416814394dfb466794e075af5117ea46
Autor:
Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard, Guida Landouré, as members of the Rare Disease Working Group of the H3Africa Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
Abstract The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more diffi
Externí odkaz:
https://doaj.org/article/c0954aa3cc6e43369b949ba24f84d6e5
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:
Kaitlyn Flynn, Candice Feben, Lindiwe Lamola, Nadia Carstens, Amanda Krause, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium
Publikováno v:
Clinical Case Reports, Vol 9, Iss 4, Pp 2144-2148 (2021)
Abstract First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene.
Externí odkaz:
https://doaj.org/article/7ec379912cc04cc5a5d8f731fde59cfa
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
Autor:
Nadia Carstens, Saadiah Goolam, Michaella Hulley, Jean-Tristan Brandenburg, Michele Ramsay, Susan Eileen Isabella Williams
Publikováno v:
Eye (London, England).
To identify pathogenic variants in a cohort of 23 black South African children with sporadic primary congenital glaucoma (PCG) using an exome-based approach.Children with PCG were recruited from two Paediatric Ophthalmology Clinics in Johannesburg, S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2512a5590fe4687ffbf8399437f02b27
https://pubmed.ncbi.nlm.nih.gov/35094026
https://pubmed.ncbi.nlm.nih.gov/35094026
Autor:
Saadiah, Goolam, Nadia, Carstens, Mark, Ross, David, Bentley, Margarida, Lopes, John, Peden, Zoya, Kingsbury, Eleni, Tsogka, Robyn, Barlow, Trevor R, Carmichael, Michèle, Ramsay, Susan E, Williams
Publikováno v:
Molecular vision. 24
To report on a clinical and genetic investigation of a large, multigenerational South African family of mixed ancestry with autosomal dominant congenital cataracts, coloboma, and nystagmus.Ophthalmic examination was performed in 27 individuals from t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::660cb925a1fdd9ed15050e54534e62f9
https://pubmed.ncbi.nlm.nih.gov/29930474
https://pubmed.ncbi.nlm.nih.gov/29930474
Publikováno v:
Omics : a journal of integrative biology. 21(3)
SLC22A2 facilitates the transport of endogenous and exogenous cationic compounds. Many pharmacologically significant compounds are transported by SLC22A2, including the antidiabetic drug metformin, anticancer agent cisplatin, and antiretroviral lamiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba3900cb580e724a57b12fa93c56804
https://pubmed.ncbi.nlm.nih.gov/28253084
https://pubmed.ncbi.nlm.nih.gov/28253084
Autor:
Stine Büchmann-Møller, Ming Sin Cheung, Peter Swart, Saadiah Goolam, Susan Williams, Michèle Ramsay, Frank Staedtler, Dennis S Rice, Nadia Carstens, Chao Zou, Trevor R. Carmichael, Marc Sultan, Kim Paes, Arnaud Lacoste
Publikováno v:
BMC Medical Genetics
Background Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulthood. The aim of this study was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc05751631fc2da9ca48f200d34ecf4a
https://doi.org/10.1186/s12881-016-0308-0
https://doi.org/10.1186/s12881-016-0308-0