Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Benjamin M. Nash"'
Autor:
Benjamin M. Nash, To Ha Loi, Milan Fernando, Amin Sabri, James Robinson, Anson Cheng, Steven S. Eamegdool, Elizabeth Farnsworth, Bruce Bennetts, John R. Grigg, Seo-Kyung Chung, Anai Gonzalez-Cordero, Robyn V. Jamieson
Publikováno v:
Stem Cells International, Vol 2021 (2021)
Human induced pluripotent stem cells (hiPSCs) generated from patients and the derivative retinal cells enable the investigation of pathological and novel variants in relevant cell populations. Biallelic pathogenic variants in RPE65 cause early-onset
Externí odkaz:
https://doaj.org/article/efc0b3e3faab4cc08d30e555d2e914e1
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:
Dhimas H. Sakti, Elisa E. Cornish, Clare L. Fraser, Benjamin M. Nash, Trent M. Sandercoe, Michael M. Jones, Neil A. Rowe, Robyn V. Jamieson, Alexandra M. Johnson, John R. Grigg
Publikováno v:
Documenta Ophthalmologica.
Background Neuronal ceroid lipofuscinosis is a group of neurodegenerative disorders with varying visual dysfunction. CLN3 is a subtype which commonly presents with visual decline. Visual symptomatology can be indistinct making early diagnosis difficu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7273f0d8d75b6c159cfd04f2aed9292
https://doi.org/10.1007/s10633-023-09930-1
https://doi.org/10.1007/s10633-023-09930-1
Autor:
Lisa Ewans, Dhimas Hari Sakti, Benjamin M. Nash, Afsah Zaheer, Peter McCluskey, Clara W. T. Chung, Sulekha Rajagopalan, Robyn V. Jamieson, John R. Grigg, Stephanie Retsas, Nina Mustafic, Elisa E Cornish
Publikováno v:
Ophthalmic Genetics. 42:706-716
Purpose Mer tyrosine kinase-retinitis pigmentosa (MERTK-RP) causes a primary defect in the retinal pigment epithelium, which subsequently affects rod and cone photoreceptors. The study aims to identify the most appropriate MERTK-RP biomarkers to meas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d37401647657196bbb5c8b5a1bd7b984
https://doi.org/10.1080/13816810.2021.1955278
https://doi.org/10.1080/13816810.2021.1955278
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. 12(3)
The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4e4901a9c786f60599fb6230b9cc10f0
https://pubmed.ncbi.nlm.nih.gov/35330501
https://pubmed.ncbi.nlm.nih.gov/35330501
Autor:
Alan Ma, John R. Grigg, David J. Amor, Benjamin M. Nash, Karen Wong, Sarah E Leighton, Maree Flaherty, Gladys Ho, Marcel E. Dinger, Frank Martin, Natasha J Brown, James A. Smith, Gemma Jenkins, Himanshu Goel, André E. Minoche, Thet Gayagay, Emma L. Hackett, Mark J. Cowley, Katherine Holman, Katrina Slater, Tiffany Lai, Anson Cheng, Bruce Bennetts, Robyn V. Jamieson, Elizabeth Farnsworth
Publikováno v:
Human mutationREFERENCES. 42(9)
Congenital cataracts are one of the major causes of childhood-onset blindness around the world. Genetic diagnosis provides benefits through avoidance of unnecessary tests, surveillance of extraocular features, and genetic family information. In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c32c4b3f841f1b4a619595cd288f93b6
https://pubmed.ncbi.nlm.nih.gov/34101287
https://pubmed.ncbi.nlm.nih.gov/34101287
Publikováno v:
Essentials in Ophthalmology ISBN: 9789811591839
Phosphodiesterase 6B (PDE6B) is one of the most commonly mutated genes to cause autosomal recessive retinitis pigmentosa (RP), also known as rod-cone dystrophy. The PDE6B protein plays a crucial role in the phototransduction cascade. With the emergin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::414fdf30e6ecc732a174a2ad5ed33cb7
https://doi.org/10.1007/978-981-15-9184-6_15
https://doi.org/10.1007/978-981-15-9184-6_15
Autor:
To Ha Loi, Diana Jelovic, Bruce Bennetts, Mark Gorbatov, Edward H. Hughes, Philip J Polkinghorne, Christopher J. G. Watson, Robyn V. Jamieson, Benjamin M. Nash, John R. Grigg, Alec Lin Hou, Andrea L Vincent
Publikováno v:
Eur J Hum Genet
The COL9A3 gene encodes one of the three alpha chains of Type IX collagen, with heterozygous variants reported to cause multiple epiphyseal dysplasia, and suggested as contributory in some cases of sensorineural hearing loss. Patients with homozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ebd5b9c906b894e6b4a849c7d54c15d
https://pubmed.ncbi.nlm.nih.gov/33633367
https://pubmed.ncbi.nlm.nih.gov/33633367
Autor:
James E. Elder, David J. Amor, Annabelle Enriquez, Tiffany Lai, Saira Yousoof, Katherine Holman, Thet Gayagay, Chloe A Stutterd, Benjamin M. Nash, Emma L. Hackett, Gemma Jenkins, Frank Martin, Mark J. Cowley, Marcel E. Dinger, Katrina Fisk, Karen Wong, Meredith Wilson, Robyn V. Jamieson, André E. Minoche, Alan Ma, Anson Cheng, Benjamin Kamien, Bruce Bennetts, Tanya Karaconji, Elizabeth Farnsworth, Gladys Ho, Maree Flaherty, John R. Grigg, John Nelson
Publikováno v:
Genetics in Medicine
Purpose Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate the value of a combined analysis protocol using phenotypic, genomic, and pedigre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cde45c2b8241690c33339495f0a38d0
https://pubmed.ncbi.nlm.nih.gov/32499604
https://pubmed.ncbi.nlm.nih.gov/32499604
Autor:
Sarah A. Sandaradura, Kristi J. Jones, Annapurna Sudarsanam, Mark R. Davis, Daniel G. MacArthur, Amanda Charlton, Adam Bournazos, Leigh B. Waddell, Susan Brammah, Christopher Troedson, Amali Mallawaarachchi, Meredith Wilson, Benjamin M. Nash, Sandra T. Cooper, Gregory Peters, Elizabeth M. Algar, Beryl B. Cummings, Kathryn N. North, Nigel G. Laing
Publikováno v:
Human Mutation. 39:383-388
A male neonate presented with severe weakness, hypotonia, contractures and congenital scoliosis. Skeletal muscle specimens showed marked atrophy and degeneration of fast fibres with striking nemaline rods and hypertrophy of slow fibres that were ultr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e061ec8ba11632024b73f7b258d75d
https://doi.org/10.1002/humu.23385
https://doi.org/10.1002/humu.23385