Zobrazeno 1 - 10 of 61 pro vyhledávání: '"Susan M Carden"'
1
Chorioretinal colobomas in neonatal intensive care using ocular coherence tomography
Autor: Thomas G. Campbell, Susan M Carden, Rahul Chakrabarti
Publikováno v: Clinical and Experimental Optometry. 104:119-121
A one‐month‐old male infant born at full term was referred for an ophthalmic examination due to concerns about visual behaviour, triangular face, deep set eyes and thin lips. The infant had a genet...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39f262e97ab88faabc56eb35fe0f311c
https://doi.org/10.1111/cxo.13074
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4
Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome
Autor: Ingrid E. Scheffer, Susan M Carden, Michael S. Hildebrand, Anthony J. Penington, Samuel F. Berkovic, Timothy E Green, Rebekah V Harris, Duncan MacGregor, Chelsee A. Hewitt
Publikováno v: Cold Spring Harbor Molecular Case Studies
Nevus sebaceous syndrome (NSS) is a rare, multisystem neurocutaneous disorder, characterized by a congenital nevus, and may include brain malformations such as hemimegalencephaly or focal cortical dysplasia, ocular, and skeletal features. It has been
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b4d269a4d3b26e33426fa9b84dc6432
http://europepmc.org/articles/PMC8751419
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5
Cystoid macular oedema in a pre-term infant associated with loss and recovery of vision
Autor: Kathy Jao, Thomas G. Campbell, Susan M Carden, Rahul Chakrabarti
Publikováno v: Clinicalexperimental optometry. 104(2)
The presence of cystoid macular oedema (CMO)‐like changes is well described among pre‐term infants with and without retinopathy of prematurity.20111,2 Toth et al.3 first demonstrated using spectral...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d10916d534ca709207a14945cc6040e
https://pubmed.ncbi.nlm.nih.gov/32621395
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6
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay
Autor: Kenneth A. Myers, Chung Wo Chow, Melanie Bahlo, Mark F. Bennett, Susan M Carden, Simone Mandelstam, Ingrid E. Scheffer
Publikováno v: American Journal of Medical Genetics Part A. 176:230-234
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screenin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6595038a38e9f78d43f488498e7d4f52
https://doi.org/10.1002/ajmg.a.38549
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7
New trends in childhood vision impairment in a developed country
Autor: Shivanand Sheth, Susan M Carden, Jill E Keeffe, Chengde Pham
Publikováno v: Journal of American Association for Pediatric Ophthalmology and Strabismus. 21:496-498
The Education Vision Assessment Clinic (EVAC) is a unique statewide service that reviews school children 4-18 years of age with low vision in Victoria, Australia, to determine their eligibility for educational support. The purpose of this study was t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7540c0fcdb6d5adb252565351b03f617
https://doi.org/10.1016/j.jaapos.2017.08.002
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8
PERIPHERAL RETINAL DRUSEN-LIKE DEPOSITS IN GUCY2C CONGENITAL SECRETORY DIARRHEA SYNDROME
Autor: Susan M Carden, Nicholas Brislane, Robyn H. Guymer, Dean Cugley
Publikováno v: Retinal casesbrief reports. 15(1)
Purpose To report the presence of drusen in infancy, in a patient with Type 1 retinopathy of prematurity and a rare congenital sodium diarrhea secondary to a sporadic GUCY2C mutation. Methods A case report generated by review of clinical course, with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f023e9a1bbee8bf2553fb175b544e2
https://pubmed.ncbi.nlm.nih.gov/29979251
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