Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Leo, Sheck"'
1
Peripheral pigmented lesions in ABCA4-associated retinopathy
Autor: Haya H Al-Ani, Andrea L Vincent, Leo Sheck
Publikováno v: Ophthalmic Genetics. 42:383-391
Purpose: To investigate the prevalence and characteristics of peripheral pigmented retinal lesions and the associated clinical and genetic findings in patients with pathogenic variants in the ABCA4 gene.Methods: Records at a single tertiary hospital
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ad0c57940e2554ea546ac91d1fe9a7db
https://doi.org/10.1080/13816810.2021.1897850
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2
Panel‐based genetic testing for inherited retinal disease screening 176 genes
Autor: Omar A. Mahroo, Kamron N. Khan, Michel Michaelides, Leo Sheck, Gavin Arno, Nikolas Pontikos, Simona Degli Esposti, Andrew R. Webster, Genevieve A. Wright
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Background This case series reports the performance of a next‐generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD). Methods Subjects are patients who underwent genetic testing between 1 A
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05668927b8b6498e8d33d7fd601d0325
https://doaj.org/article/d9a2c90ab2db40a18d03c084aae7a866
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4
A practical decision-tree model to predict complexity of reconstructive surgery after periocular basal cell carcinoma excision
Autor: S.G.J. Ng, P.J. Salmon, Leo Sheck, E. Tan, Frank Lin
Publikováno v: Journal of the European Academy of Dermatology and Venereology. 31:717-723
Purpose To derive a decision rule for predicting surgical complexity in periorbital basal cell carcinoma (pBCC). Design Prospective, cohort study. Participants Patients referred to an oculoplastic service for excision of pBCC from September 2010 to N
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03faf8a45eb30f0eb2033cb3f0128fcc
https://doi.org/10.1111/jdv.14012
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5
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies
Autor: Leo, Sheck, Wayne I L, Davies, Phillip, Moradi, Anthony G, Robson, Neruban, Kumaran, Alki C, Liasis, Andrew R, Webster, Anthony T, Moore, Michel, Michaelides
Publikováno v: Ophthalmology
Purpose To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::57182bc1a380047f360c4a4b9014e2a2
https://pubmed.ncbi.nlm.nih.gov/29398085
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7
Growth of periocular basal cell carcinomas
Autor: E. Tan, Frank Lin, P.J. Salmon, S.G.J. Ng, Leo Sheck
Publikováno v: The British journal of dermatology. 172(4)
Summary Background Basal cell carcinomas (BCCs) are generally regarded as slow-growing tumours. There is a paucity of data on the rate of BCC growth and the impact of delayed excision. Objectives To measure the growth rate and assess the impact of de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d23d537ab83296cfa55ec4f7b0367403
https://pubmed.ncbi.nlm.nih.gov/25827735
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10
Clinical findings and molecular diagnosis of retinoblastoma in older children
Autor: Mike Watson, Leo Sheck, Yvonne Ng, Andrea L Vincent
Publikováno v: Ophthalmic genetics. 34(4)
Background: Retinoblastoma (RB) is the most common primary childhood intraocular malignancy and usually presents before the age of 4 years. RB in late childhood is rare and may pose a diagnostic challenge to clinicians. Materials and Methods: Patient
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e85bcc02dde05a212445583bbbb7c6
https://pubmed.ncbi.nlm.nih.gov/23289805
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