Zobrazeno 1 - 10
of 1 419
pro vyhledávání: '"Alan Ma"'
Autor:
Deborah Schofield, PhD, Joshua Kraindler, MSc, Owen Tan, MComm, Rupendra Shrestha, PhD, Diana Jelovic, BAppSci, Sarah West, MBMSc, Alan Ma, PhD, FRACP, John Grigg, MD, FRANZCO, Robyn V. Jamieson, PhD, FRACP
Publikováno v:
Ophthalmology Science, Vol 2, Iss 1, Pp 100106- (2022)
Purpose: To evaluate the impact of inherited retinal diseases (IRDs) on quality of life (QoL) using multiattributable health utilities derived from primary patient data. Design: Cross-sectional observational study. Participants: Seventy adult patient
Externí odkaz:
https://doaj.org/article/c2a99d823c954ffebcbd8e1d469c3a4d
Autor:
Fred K Chen, Alex W Hewitt, Alan Ma, John Grigg, Keith R Martin, Robyn Jamieson, Heather G Mack, Fleur O’Hare, David Mackey, John De Roach, Alexis Ceecee Britten-Jones, Myra McGuinness, Nicole Tindill, Lauren Ayton, Anai Gonzalez Cordero, Thomas L Edwards, Gladys Ho, Michael Hogden, Anthony Kwan, Tina Lamey, Terri McLaren, Benjamin Nash, Jon Ruddle, Matthew Simunovic, Ingrid Sinnerbrink, Deepa Ajay Taranath, Jen Thompson, Jaclyn White
Publikováno v:
BMJ Open, Vol 11, Iss 6 (2021)
Introduction Voretigene neparvovec-rzyl (Luxturna) was approved by the Australian Therapeutic Goods Administration on 4 August 2020 for the treatment of biallelic mutations in the RPE65 gene, a rare cause of congenital and adult-onset retinal dystrop
Externí odkaz:
https://doaj.org/article/748c300353da46cfad1dfa7d7e12385a
Autor:
Benjamin M. Nash, Alan Ma, Gladys Ho, Elizabeth Farnsworth, Andre E. Minoche, Mark J. Cowley, Christopher Barnett, Janine M. Smith, To Ha Loi, Karen Wong, Luke St Heaps, Dale Wright, Marcel E. Dinger, Bruce Bennetts, John R. Grigg, Robyn V. Jamieson
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 7, p 3905 (2022)
The inherited retinal dystrophies (IRDs) are a clinically and genetically complex group of disorders primarily affecting the rod and cone photoreceptors or other retinal neuronal layers, with emerging therapies heralding the need for accurate molecul
Externí odkaz:
https://doaj.org/article/0cebdd4d5ce8417199fe976e77ef071a
Autor:
Fidelle Chahine Karam, To Ha Loi, Alan Ma, Benjamin M. Nash, John R. Grigg, Darshan Parekh, Lisa G. Riley, Elizabeth Farnsworth, Bruce Bennetts, Anai Gonzalez-Cordero, Robyn V. Jamieson
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 3, p 502 (2022)
The RPGR gene encodes Retinitis Pigmentosa GTPase Regulator, a known interactor with ciliary proteins, which is involved in maintaining healthy photoreceptor cells. Variants in RPGR are the main contributor to X-linked rod-cone dystrophy (RCD), and R
Externí odkaz:
https://doaj.org/article/bd10374474d04ff3ad319d610201f24e
Autor:
Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J. Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Hayes, Elizabeth Thompson, Christopher Barnett, Eric Haan, Mary-Louise Freckmann, Anne Turner, Susan White, Ben Kamien, Alan Ma, Fiona Mackenzie, Gareth Baynam, Cathy Kiraly-Borri, Michael Field, Tracey Dudding-Byth, Elizabeth M. Algar
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-13 (2018)
Abstract Background Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with a population frequency of approximately 1 in 10,000. The most common epigenetic defect in BWS is a loss of methylation (LOM) at the 11p15.5 imprinting centre, KCNQ1O
Externí odkaz:
https://doaj.org/article/ec81829129324b9a8a4e10b98c5eb320
Publikováno v:
Kafkas Universitesi Veteriner Fakültesi Dergisi, Vol 20, Iss 3, Pp 351-356 (2014)
Externí odkaz:
https://doaj.org/article/728b340174fe4bde9e871af0464df038
Autor:
Alan Ma
Publikováno v:
Proceedings of the AAAI Conference on Artificial Intelligence. 36:13197-13199
Every year in the US, millions of animals are run over by vehicles making wildlife vehicle collisions a real danger to both animals and human. In addition, road networks be-come abiotic barriers to wildlife migration between regions creating ripple e
Autor:
Flavia M. Facio, Bryn D. Webb, Alan Ma, Christopher Troedson, Irini Manoli, Carmen C. Brewer, Christopher K. Zalewski, Elizabeth C. Engle, Carol Van Ryzin, Audrey Thurm, Paul R. Lee, Timothy James Maarup, Malin Kvarnung, Edmond J. FitzGibbon, Hans Ulrik Møller, Camilo Toro, Scott M. Paul, Glad Ragnhild, Jayne Antony, Omar A. Abdul-Rahman, David G. Hunter, Janice S. Lee, Katrine V. Wirgenes, Dorte Ancher Larsen, Mary C. Whitman, Caroline D. Robson, Wai-Man Chan, Kelly A. King, Tanya J. Lehky, Francis S. Collins, Brenda J. Barry, Sarah MacKinnon, Angela Delaney, Emma Tham, Konstantinia Almpani, Ethylin Wang Jabs
Publikováno v:
Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, ' TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy ', Human Genetics, vol. 140, no. 12, pp. 1709-1731 . https://doi.org/10.1007/s00439-021-02379-9
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in
Autor:
Alan Ma
Publikováno v:
2022 IEEE MIT Undergraduate Research Technology Conference (URTC).
Autor:
Lisa van den Driest, Patricia Kelly, Alan Marshall, Caroline H. Johnson, Jessica Lasky-Su, Alison Lannigan, Zahra Rattray, Nicholas J.W. Rattray
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 2200-2210 (2024)
Breast cancer is a multifaceted disease and a leading cause of cancer morbidity and mortality in females across the globe. In 2020 alone, 2.3 million women were diagnosed and 685,000 died of breast cancer worldwide. With the number of diagnoses proje
Externí odkaz:
https://doaj.org/article/4f8bb045d6c9493293c40f466a2e131b