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List of works by Mariya Moosajee

A tense case--Carney's triad.

scientific article

Anophthalmia including next-generation sequencing-based approaches

scientific article published on 29 July 2019

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

scientific article published on 02 January 2020

Cellular imaging of inherited retinal diseases using adaptive optics

scientific article published on 04 June 2019

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments

article

Clinical utility gene card for: Aniridia

scientific article

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

scientific article published on 18 January 2017

Clinical utility gene card for: choroideremia.

scientific article published on 21 August 2013

Endoscopic endonasal retrieval of a nasolacrimal duct stone via the valve of Hasner in the inferior meatus

scientific article published on 01 March 2012

Endoscopic transnasal retrieval of an airgun pellet lodged in the orbital apex.

scientific article

From Transcriptomics to Treatment in Inherited Optic Neuropathies

scientific article published in 2021

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

scientific article published on 21 June 2016

Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma.

scientific article

Genes and the eye.

scientific article

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders

scientific article published on 5 January 2017

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom

scientific article published on 23 August 2020

Müller Glia maintain their regenerative potential despite degeneration in the aged zebrafish retina

scientific article published on 22 March 2022

Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia.

scientific article published on 7 July 2011

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

scientific article

Orbital mass secondary to infantile acute lymphoblastic leukaemia

scientific article

PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism

scientific article published on 06 October 2020

Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development ⬇️

scientific article published on February 21, 2012

Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy

scientific article published on 07 March 2019

Practical guide to genetic screening for inherited eye diseases

scientific article published on 01 January 2020

Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches

scientific article published on 28 May 2020

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

scientific article published on 17 June 2020

RNA-sequencing in ophthalmology research: considerations for experimental design and analysis

scientific article published on 01 January 2019

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

scientific article (publication date: 15 October 2007)

Safety Profile of Stromal Hydration of Clear Corneal Incisions with Cefuroxime in the Mouse Model

scientific article published on 13 June 2016

Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.

scientific article

Spectral Domain Optical Coherence Tomography: An In Vivo Imaging Protocol for Assessing Retinal Morphology in Adult Zebrafish

scientific article published on 4 January 2017

Spontaneous intracranial hypotension in adolescence.

scientific article

Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa.

scientific article published on 3 June 2008

The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis

scientific article published in 2022

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

scientific article published on 17 December 2019

The cost-effectiveness of different strategies to evaluate optic disk drusen in children

scientific article published on 01 August 2015

The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates

scientific article published on 11 August 2020

The use of a pleated strip of autogenous temporalis fascia graft for frontalis suspension in recurrent poor levator function ptosis in adult patients

scientific article published on 01 April 2012

The zebrafish eye-a paradigm for investigating human ocular genetics.

scientific article published on 9 September 2016

Think sight loss, think Charles Bonnet syndrome

scientific article published on 01 January 2019

Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina

scientific article (publication date: November 2003)

Transcriptome profiling of zebrafish optic fissure fusion

scientific article published in Scientific Reports

Usher syndrome: clinical features, molecular genetics and advancing therapeutics

scientific article published on 01 January 2020

Violence--a noxious cocktail of genes and the environment

scientific article published on 01 May 2003

Vision, eye disease, and art.

scientific article published on 29 July 2016

Visual hallucinations and sight loss in children and young adults: a retrospective case series of Charles Bonnet syndrome

scientific article published on 15 September 2020

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