Výsledky vyhledávání - "Brendan Swan"

Akademický článek

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

Autor: Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

Publikováno v: Case Reports in Genetics, Vol 2015 (2015)

We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocula

Externí odkaz: https://doaj.org/article/18e81e69ad624ba4aee1b55089870ac8

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The New Zealand minds for minds autism spectrum disorder self-reported cohort

Autor: Klaus Lehnert, Michael W. Taylor, Javier Virués-Ortega, Jessie C. Jacobsen, Rosamund Hill, Juliet Taylor, Adrienne Southee, Russell G. Snell, Dane Dougan, Brendan Swan

Publikováno v: Research in Autism Spectrum Disorders. 36:1-7

Background To improve our understanding of autism spectrum disorder (ASD) in New Zealand, a multi-disciplinary research network, Minds for Minds, was created. This network has established a cohort of self- and proxy-reported individuals and their fam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0b25216e38a4b12ae79b7e5b136baa89
https://doi.org/10.1016/j.rasd.2016.12.003

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Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Autor: Stephen P. Robertson, Jessie C. Jacobsen, Callum Wilson, Vicki Cunningham, Trent Burgess, Juliet Taylor, Donald R. Love, Russell G. Snell, Brendan Swan, Klaus Lehnert, Rosamund Hill, Emma Glamuzina, Debra O. Prosser

Publikováno v: Journal of Inherited Metabolic Disease. 39:305-308

Two male siblings from a consanguineous union presented in early infancy with marked truncal hypotonia, a general paucity of movement, extrapyramidal signs and cognitive delay. By mid-childhood they had made little developmental progress and remained

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4580aa7e4af61ac41fceba2bd45acaf8
https://doi.org/10.1007/s10545-015-9897-6

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Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q

Autor: Jessie C, Jacobsen, Whitney, Whitford, Brendan, Swan, Juliet, Taylor, Donald R, Love, Rosamund, Hill, Sarah, Molyneux, Peter M, George, Richard, Mackay, Stephen P, Robertson, Russell G, Snell, Klaus, Lehnert

Publikováno v: JIMD reports. 42

Autosomal recessive ataxias are characterised by a fundamental loss in coordination of gait with associated atrophy of the cerebellum. There is significant clinical and genetic heterogeneity amongst inherited ataxias; however, an early molecular diag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9bea3444ef08fbf065c477f609f0df65
https://pubmed.ncbi.nlm.nih.gov/29159460

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