Výsledky vyhledávání - "Stephanie Crofts"

Spectrum of ocular disease in children aged between 0 and 3 years at an Australian paediatric tertiary hospital

Autor: Edward Lo‐Cao, Stephanie Crofts, Katie Geering, Robyn V. Jamieson, John R. Grigg

Publikováno v: Clinical & Experimental Ophthalmology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88ac3453f0ad889c6c86e98fca36664a
https://doi.org/10.1111/ceo.14237

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Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of NovelTULP1Mutation in Leber Congenital Amaurosis

Autor: Jinlong Liang, James Snyder, Cong Yu, Yi Xie, Lyam Vazquez, Nada Abdel-Magid, Ivan Prokudin, Hakon Hakonarson, Robyn V. Jamieson, Brendan J. Keating, Fengxiang Wang, Craig Donaldson, Stephanie Crofts, Jun Wang, Yiran Guo, Maree Flaherty, Lifeng Tian

Publikováno v: Ophthalmic Genetics. 36:333-338

Leber congenital amaurosis (LCA) is a severe form of retinal dystrophy with marked underlying genetic heterogeneity. Until recently, allele-specific assays and Sanger sequencing of targeted segments were the only available approaches for attempted ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::978d919ce963255c1f32eccd2d34b89b
https://doi.org/10.3109/13816810.2014.886269

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Ocular and electrophysiological findings in a patient with Sly syndrome

Autor: Stephanie Crofts, Katie Geering, John R. Grigg, Maree Flaherty

Publikováno v: Ophthalmic genetics. 38(4)

Sly syndrome (Mucopolysaccharidosis Type VII) is an autosomal recessive metabolic storage disorder due to mutations in the GUSB gene encoding the enzyme beta-glucuronidase. Deficiency of this lysosomal enzyme impairs the body's ability to break down

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96cfe951b74d3af1e85f0a19ac9a22c8
https://pubmed.ncbi.nlm.nih.gov/27648682

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A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report

Autor: Neil A. Rowe, Safinaz Mohd Khialdin, John R. Grigg, Meredith Wilson, Christopher Troedson, Stephanie Crofts

Publikováno v: Documenta ophthalmologica. Advances in ophthalmology. 131(3)

Phosphoglycerate kinase (PGK) deficiency is an X-linked neurometabolic genetic disorder with variable systemic manifestations. So far, only one patient with retinal anomalies has been reported, but no visual electrophysiology findings were described.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17dc1b2d23c4fc6f579c3396b6e15c1a
https://pubmed.ncbi.nlm.nih.gov/26396085

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