Zobrazeno 1 - 10
of 176
pro vyhledávání: '"Amanda, Krause"'
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:
Emilia M. Pinto, Cintia Fridman, Bonald C. Figueiredo, Hector Salvador, Manuel R. Teixeira, Carla Pinto, Manuela Pinheiro, Christian P. Kratz, Cinzia Lavarino, Edith A.M. F. Legal, Anh Le, Gregory Kelly, Erika Koeppe, Elena M. Stoffel, Kelsey Breen, Stefanie Hahner, Britta Heinze, Piti Techavichit, Amanda Krause, Tsutomu Ogata, Yasuko Fujisawa, Michael F. Walsh, Huma Q. Rana, Kara N. Maxwell, Judy E. Garber, Carlos Rodriguez-Galindo, Raul C. Ribeiro, Gerard P. Zambetti
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100244- (2024)
Summary: The germline TP53 p.R337H mutation is reported as the most common germline TP53 variant. It exists at a remarkably high frequency in the population of southeast Brazil as founder mutation in two distinct haplotypes with the most frequent co-
Externí odkaz:
https://doaj.org/article/02c8af13bfa145bdbadf55670897ec29
Autor:
Emma K. Wiener, James Buchanan, Amanda Krause, Zané Lombard, for the DDD-Africa Study, as members of the H3Africa Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Exome sequencing is recommended as a first-line investigation for patients with a developmental delay or intellectual disability. This approach has not been implemented in most resource-constraint settings, including Africa, due t
Externí odkaz:
https://doaj.org/article/a4f1b5be17d5410e8fb2136fcf808393
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:
Jessica Dawson, Fiona K. Baine-Savanhu, Marc Ciosi, Alastair Maxwell, Darren G. Monckton, Amanda Krause
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100130- (2022)
Summary: Huntington disease (HD)is a dominantly inherited neurodegenerative disorder caused by the expansion of a polyglutamine encoding CAG repeat in the huntingtin gene. Recently, it has been established that disease severity in HD is best predicte
Externí odkaz:
https://doaj.org/article/fb901a877a004aa2917e333a9bf27205
Autor:
Bianca D'Agostino, Amanda Krause, Amy Klan, Briana Goldberg, Jessica Whitley, Maria Rogers, David Smith, Michael Hone, Natasha McBrearty
Publikováno v:
Journal of Community Engagement and Scholarship, Vol 14, Iss 2 (2022)
This paper describes a newly established community-based participatory research partnership that brings together professionals from several disciplines to gain greater insight into the needs of children and the families of children seeking mental hea
Externí odkaz:
https://doaj.org/article/167a2729a5c844699658a9300252ee36
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
Publikováno v:
Journal of Singing. 79:445-456
While studies have defined voice teacher expertise, seldom have associations been made between voice teachers and their students’ performing achievements. This study investigated which characteristics and attributes of successful classical and musi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d66008a76d4d10bcc289b8c543b41c07
https://doi.org/10.53830/hhjh1114
https://doi.org/10.53830/hhjh1114
Autor:
Bronwyn Dillon, Candice Feben, David Segal, Johannes duPlessis, David Reynders, Rosalind Wainwright, Janet Poole, Amanda Krause
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Fanconi anemia (FA) is phenotypically diverse, hereditary condition associated with bone marrow failure, multiple physical abnormalities, and an increased susceptibility to the development of malignancies. Less recognized manifest
Externí odkaz:
https://doaj.org/article/4ed44326b2f8437bbbf21b5e88f7f082