Zobrazeno 1 - 10
of 301
pro vyhledávání: '"Lisa A. Riley"'
Autor:
Phillip J. Greenwell, Lisa M. Riley, Ricardo Lemos de Figueiredo, James E. Brereton, Andrew Mooney, Paul E. Rose
Publikováno v:
Journal of Zoological and Botanical Gardens, Vol 4, Iss 1, Pp 53-69 (2023)
Modern zoos and aquariums have evolved greatly since the end of the Second World War, to become centres of conservation excellence and scientific institutions for the study of animal behaviour, ecology, husbandry management. Whilst the impact of zoos
Externí odkaz:
https://doaj.org/article/0c6e6c3451b944b1abbad34f2383ce04
Publikováno v:
Journal of Zoological and Botanical Gardens, Vol 3, Iss 4, Pp 624-640 (2022)
The study of animal behaviour is important for the development of husbandry and management practices for zoo-housed species. Yet, data are typically only collected during daylight hours, aligning with human work schedules rather than animal activity
Externí odkaz:
https://doaj.org/article/c5489f45f99742d0bb91c79e15819541
Autor:
Paul E. Rose, Lisa M. Riley
Publikováno v:
Journal of Zoological and Botanical Gardens, Vol 2, Iss 3, Pp 421-444 (2021)
Behavioural research in zoos is commonplace and is used in the diagnosis and treatment of potential husbandry and management challenges. Robust methods that allow valid data collection and analysis constitute an evidence-based approach to animal care
Externí odkaz:
https://doaj.org/article/3c7f9d1915f64338991504c1e772221d
Autor:
Paul E. Rose, Lisa M. Riley
Publikováno v:
Frontiers in Psychology, Vol 13 (2022)
Zoos and aquariums have an enormous global reach and hence an ability to craft meaningful conservation action for threatened species, implement educational strategies to encourage human engagement, development and behavior change, and conduct scienti
Externí odkaz:
https://doaj.org/article/784fdcafbd2e43fb9dc6dd7f4489ffa6
Autor:
Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas, Rachel Toth, Alison J. Eaton, Kristin D. Kernohan, Meredith J. Wilson, Lisa G. Riley, Greg M. Findlay
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Tonne–Kalscheuer syndrome (TOKAS) is an X-linked intellectual disability syndrome associated with variable clinical features including craniofacial abnormalities, hypogenitalism and diaphragmatic hernia. TOKAS is caused exclusively by vari
Externí odkaz:
https://doaj.org/article/2d52100e1cdb40aa897c41b55f0c87e6
Autor:
Anne Sophie Neyroud, Joëlle Rudinger-Thirion, Magali Frugier, Lisa G. Riley, Maud Bidet, Linda Akloul, Andrea Simpson, David Gilot, John Christodoulou, Célia Ravel, Andrew H. Sinclair, Marc-Antoine Belaud-Rotureau, Elena J. Tucker, Sylvie Jaillard
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2023, 31 (4), pp.453-460. ⟨10.1038/s41431-022-01252-1⟩
European Journal of Human Genetics, 2023, 31 (4), pp.453-460. ⟨10.1038/s41431-022-01252-1⟩
International audience; Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes in which variants can cause POI, with these explaining only a minority of cases. Whole exome se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a5423f8b393fbb584997ad16e7e314
https://doi.org/10.1038/s41431-022-01252-1
https://doi.org/10.1038/s41431-022-01252-1
Autor:
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou
Publikováno v:
Human Mutation. 43:1970-1978
Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e11260540fcdf4132eee665d92873d
https://doi.org/10.1002/humu.24453
https://doi.org/10.1002/humu.24453
Autor:
Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O Khan, Fadi F Hamdan, Robyn V Jamieson, Fowzan S Alkuraya, Jacques L Michaud, Nicolas Chassaing
Publikováno v:
Journal of Medical Genetics. 60:294-300
BackgroundPulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants inRARBandSTRA6, which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5865d5b0d494dbbc030cc0570f79785f
https://doi.org/10.1136/jmedgenet-2022-108475
https://doi.org/10.1136/jmedgenet-2022-108475
Autor:
Joëlle Rudinger-Thirion, Denise L. Chan, Kavitha Kothur, Shekeeb S. Mohammad, Lisa G. Riley, Gladys Ho, Magali Frugier
Publikováno v:
Brain and Development. 44:142-147
Introduction Mutations in QARS1, which encodes human glutaminyl-tRNA synthetase, have been associated with epilepsy, developmental regression, progressive microcephaly and cerebral atrophy. Epilepsy caused by variants in QARS1 is usually drug-resista
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3195cbae06cfab80b97a0910e352be82
https://doi.org/10.1016/j.braindev.2021.10.009
https://doi.org/10.1016/j.braindev.2021.10.009
Autor:
Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou
Publikováno v:
Neurology: Genetics, 9(1):e200051. Lippincott Williams & Wilkins
Background and ObjectivesThe term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d63266aae41053c833a75d19b1b06e1a
https://pure.eur.nl/en/publications/75fb823a-e3c2-4b67-96d4-a58ed6266d8a
https://pure.eur.nl/en/publications/75fb823a-e3c2-4b67-96d4-a58ed6266d8a