Search Results - "Baine, Fiona"

A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci by Baine, Fiona K., Peerbhai, Nabeelah, Krause, Amanda

“…Huntington disease (HD) is a progressive neurodegenerative disease, characterised by a triad of movement disorder, emotional and behavioural disturbances and…”
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The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population by Baine, Fiona K, Krause, Amanda, Greenberg, L Jacquie

“…Huntington disease (HD) has most recently been estimated to affect between 10.6 and 13.7 per 100,000 individuals in European populations. However, prevalence…”
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Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes by Baine, Fiona K, Kay, Chris, Ketelaar, Maria E, Collins, Jennifer A, Semaka, Alicia, Doty, Crystal N, Krause, Amanda, Greenberg, L Jacquie, Hayden, Michael R

“…Huntington disease (HD) is a neurodegenerative disorder resulting from the expansion of a CAG trinucleotide repeat in the huntingtin (HTT) gene. Worldwide…”
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A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry by Dawson, Jessica, Baine-Savanhu, Fiona K., Ciosi, Marc, Maxwell, Alastair, Monckton, Darren G., Krause, Amanda

“…Huntington disease (HD)is a dominantly inherited neurodegenerative disorder caused by the expansion of a polyglutamine encoding CAG repeat in the huntingtin…”
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Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review by Baine-Savanhu, Fiona, Macaulay, Shelley, Louw, Nadja, Bollweg, Alanna, Flynn, Kaitlyn, Molatoli, Mhlekazi, Nevondwe, Patracia, Seymour, Heather, Carstens, Nadia, Krause, Amanda, Lombard, Zané

“…Genetic variants cause a significant portion of developmental disorders and intellectual disabilities (DD/ID), but clinical and genetic heterogeneity makes…”
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Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East by Squitieri, Ferdinando, Mazza, Tommaso, Maffi, Sabrina, De Luca, Alessandro, AlSalmi, Qasem, AlHarasi, Salma, Collins, Jennifer A., Kay, Chris, Baine-Savanhu, Fiona, Landwhermeyer, Bernard G., Sabatini, Umberto, Hayden, Michael R.

“…Purpose We aimed to determine the origin and genetic characteristics of Huntington disease (HD) in the Middle East. Methods We performed genetic and…”
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J11 Investigating phenocopies in a cohort of south african patients with a huntington’s disease-like phenotype by Baine, Fiona K, Krause, Amanda

“…BackgroundHuntington’s disease (HD) is caused by an unstable expanded trinucleotide (CAG) repeat in the huntingtin (HTT) gene. Presentation involves a clinical…”
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A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease by Kay, Chris, Collins, Jennifer A., Caron, Nicholas S., Agostinho, Luciana de Andrade, Findlay-Black, Hailey, Casal, Lorenzo, Sumathipala, Dulika, Dissanayake, Vajira H.W., Cornejo-Olivas, Mario, Baine, Fiona, Krause, Amanda, Greenberg, Jacquie L., Paiva, Carmen Lúcia Antão, Squitieri, Ferdinando, Hayden, Michael R.

“…Huntington disease (HD) is a fatal neurodegenerative disorder caused by a gain-of-function mutation in HTT. Suppression of mutant HTT has emerged as a leading…”
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The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population by Kay, Chris, Collins, Jennifer A., Wright, Galen E.B., Baine, Fiona, Miedzybrodzka, Zosia, Aminkeng, Folefac, Semaka, Alicia J., McDonald, Cassandra, Davidson, Mark, Madore, Steven J., Gordon, Erynn S., Gerry, Norman P., Cornejo‐Olivas, Mario, Squitieri, Ferdinando, Tishkoff, Sarah, Greenberg, Jacquie L., Krause, Amanda, Hayden, Michael R.

“…Huntington disease (HD) is the most common monogenic neurodegenerative disorder in populations of European ancestry, but occurs at lower prevalence in…”
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Implications of direct-to-consumer whole-exome sequencing in South Africa by Lombard, Zané, Baine, Fiona, Krause, Amanda, Lochan, Anneline, Macualay, Shelley, Spencer, Careni, Aldous, Colleen, De Vries, Jantina, Fieggen, Karen, Henderson, Bertram, Hoal, Eileen, Kinnear, Craig, Kinsley, Noelene, September, Alison, Urban, Michael, Soodyall, Himla, Pepper, Michael, Ramsay, Michele

“…This editorial examines a number of vitally important ethical, legal and scientific concerns that have to be addressed to ensure proper and ethical…”
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Implications of direct-to-consumer whole-exome sequencing in South Africa : editorial by Kinnear, Craig, Lochan, Anneline, Aldous, Colleen, Lombard, Zane, Hoal, Eileen, Soodyall, Himla, Spencer, Careni, De Vries, Jantina, Ramsay, Michele, Krause, Amanda, Urban, Michael, Henderson, Bertram, Fieggen, Karen, Kinsley, Noelene, Macaulay, Shelley, Baine, Fiona, September, Alison, Pepper, Michael

“…Next-generation sequencing (NGS) has truly transformed human genetics and is now an integral discovery tool in the field. Whole-exome sequencing (WES) - an NGS…”
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Huntington disease-like 2: insight into neurodegeneration from an African disease by Krause, Amanda, Anderson, David G., Ferreira-Correia, Aline, Dawson, Jessica, Baine-Savanhu, Fiona, Li, Pan P., Margolis, Russell L.

“…Huntington disease (HD)-like 2 (HDL2) is a rare genetic disease caused by an expanded trinucleotide repeat in the JPH3 gene (encoding junctophilin 3) that…”
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Duplication of the Asymmetric Leaves1/Rough Sheath 2/Phantastica (ARP) gene precedes the explosive radiation of the Ruschioideae by Illing, Nicola, Klak, Cornelia, Johnson, Cheryl, Brito, Denise, Negrao, Nuria, Baine, Fiona, van Kets, Victoria, Ramchurn, Kayshinee Rye, Seoighe, Cathal, Roden, Laura

“…The Mesembryanthemoideae and Ruschioideae subfamilies are a major component of the Greater Cape Floristic Region in southern Africa. The Ruschioideae show an…”
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