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110 results for Moosajee,+Mariya

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ArticlesPeer ReviewedFull Text
A "REVOLUTION" IN GENETIC TESTING
Publisher:Ten Alps Publishing
Journal title:Optometry today (London), 2018-03, Vol.58 (3), p.8
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ArticlesPeer ReviewedFull Text
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye
Author / Creator:Lima Cunha, Dulce ; Arno, Gavin ; Corton, Marta ; Moosajee, Mariya
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2019-12, Vol.10 (12), p.1050
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ArticlesPeer ReviewedFull Text
Cellular imaging of inherited retinal diseases using adaptive optics
Author / Creator:Gill, Jasdeep S. ; Moosajee, Mariya ; Dubis, Adam M.
Publisher:London: Nature Publishing Group UK
Journal title:Eye (London), 2019-11, Vol.33 (11), p.1683-1698
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ArticlesPeer ReviewedFull Text
The Molecular Basis of Human Anophthalmia and Microphthalmia
Author / Creator:Harding, Philippa ; Moosajee, Mariya
Publisher:Switzerland: MDPI AG
Journal title:Journal of developmental biology, 2019-08, Vol.7 (3), p.16
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ArticlesPeer ReviewedFull Text
PAX6 disease models for aniridia
Author / Creator:Abdolkarimi, Dorsa ; Cunha, Dulce Lima ; Lahne1, Manuela ; Moosajee, Mariya
Publisher:India: Medknow Publications & Media Pvt Ltd
Journal title:Indian journal of ophthalmology, 2022-12, Vol.70 (12), p.4119-4129
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ArticlesPeer ReviewedFull Text
P-11 Characterisation of human PHARC fibroblasts harbouring a nonsense mutation in ABHD12 gene and subsequent generation of a iPSC line
Author / Creator:Romero-Vázquez, Sara ; Moosajee, Mariya
Publisher:London: BMJ Publishing Group Ltd
Journal title:BMJ open ophthalmology, 2024-03, Vol.9 (Suppl 1), p.A7-A8
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ArticlesPeer ReviewedFull Text
Anophthalmia including next-generation sequencing-based approaches
Author / Creator:Harding, Philippa ; Brooks, Brian P. ; FitzPatrick, David ; Moosajee, Mariya
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-03, Vol.28 (3), p.388-398
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ArticlesPeer ReviewedFull Text
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches
Author / Creator:Eintracht, Jonathan ; Corton, Marta ; FitzPatrick, David ; Moosajee, Mariya
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.679-690
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ArticlesPeer ReviewedFull Text
The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders
Author / Creator:Eintracht, Jonathan ; Toms, Maria ; Moosajee, Mariya
Publisher:Switzerland: Frontiers Media S.A
Journal title:Frontiers in cellular neuroscience, 2020-08, Vol.14, p.265-265
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Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy
Author / Creator:Toms, Maria ; Burgoyne, Thomas ; Tracey-White, Dhani ; Richardson, Rose ; Dubis, Adam M. ; Webster, Andrew R. ; Futter, Clare ; Moosajee, Mariya
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-03, Vol.9 (1), p.3793-3793, Article 3793
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Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches
Author / Creator:Hagag, Ahmed M. ; Mitsios, Andreas ; Narayan, Akshay ; Abbouda, Alessandro ; Webster, Andrew R. ; Dubis, Adam M. ; Moosajee, Mariya
Publisher:London: Nature Publishing Group UK
Journal title:Eye (London), 2021-03, Vol.35 (3), p.838-852
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PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
Author / Creator:Lima Cunha, Dulce ; Owen, Nicholas ; Tailor, Vijay ; Corton, Marta ; Theodorou, Maria ; Moosajee, Mariya
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.349-355
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ArticlesPeer ReviewedFull Text
Practice patterns in reporting and documentation of Charles Bonnet syndrome: a retrospective review following COVID-19
Author / Creator:Abdulhussein, Dalia ; Jones, Lee ; Dintakurti, Sri Harsha ; Moosajee, Mariya
Publisher:London, England: SAGE Publications
Journal title:Therapeutic advances in ophthalmology, 2024-01, Vol.16, p.25158414241232285-25158414241232285
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ArticlesPeer ReviewedFull Text
A stable NTN1 fluorescent reporter chicken reveals cell specific molecular signatures during optic fissure closure
Author / Creator:Ho Ching Chan, Brian ; Hardy, Holly ; Requena, Teresa ; Findlay, Amy ; Ioannidis, Jason ; Meunier, Dominique ; Toms, Maria ; Moosajee, Mariya ; Raper, Anna ; McGrew, Mike J. ; Rainger, Joe
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-03, Vol.15 (1), p.10096-12, Article 10096
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Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project
Author / Creator:Al-Saei, Omayma ; Malka, Samantha ; Owen, Nicholas ; Aliyev, Elbay ; Vempalli, Fazulur Rehaman ; Ocieczek, Paulina ; Al-Khathlan, Bashayer ; Fakhro, Khalid ; Moosajee, Mariya
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2024-05, Vol.25 (1), p.484-484, Article 484
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ArticlesPeer ReviewedFull Text
Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia
Author / Creator:Sarkar, Hajrah ; Lahne, Manuela ; Nair, Neelima ; Moosajee, Mariya
Publisher:Switzerland: MDPI AG
Journal title:Antioxidants, 2023-08, Vol.12 (9), p.1694
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ArticlesPeer ReviewedFull Text
Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies
Author / Creator:Abbouda, Alessandro ; Avogaro, Filippo ; Moosajee, Mariya ; Vingolo, Enzo Maria
Publisher:Switzerland: MDPI
Journal title:Medicina (Kaunas, Lithuania), 2021-01, Vol.57 (1), p.64
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ArticlesPeer ReviewedFull Text
OP-08 Analysing the transcriptome of choroideremia patient-derived iPSC-RPE
Author / Creator:Linkens, Katy ; Owen, Nicholas ; Toualbi, Lyes ; Moosajee, Mariya
Publisher:London: BMJ Publishing Group Ltd
Journal title:BMJ open ophthalmology, 2024-03, Vol.9 (Suppl 1), p.A3-A3
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ArticlesPeer ReviewedFull Text
Identification of the regulatory circuit governing corneal epithelial fate determination and disease
Author / Creator:Smits, Jos G. A. ; Cunha, Dulce Lima ; Amini, Maryam ; Bertolin, Marina ; Laberthonnière, Camille ; Qu, Jieqiong ; Owen, Nicholas ; Latta, Lorenz ; Seitz, Berthold ; Roux, Lauriane N. ; Stachon, Tanja ; Ferrari, Stefano ; Moosajee, Mariya ; Aberdam, Daniel ; Szentmary, Nora ; van Heeringen, Simon J. ; Zhou, Huiqing
Publisher:United States: Public Library of Science
Journal title:PLoS biology, 2023-10, Vol.21 (10), p.e3002336
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ArticlesPeer ReviewedFull Text
Efficient embryoid-based method to improve generation of optic vesicles from human induced pluripotent stem cells [version 1; peer review: 2 approved]
Author / Creator:Eintracht, Jonathan ; Harding, Philippa ; Lima Cunha, Dulce ; Moosajee, Mariya
Publisher:England: Faculty of 1000 Ltd
Journal title:F1000 research, 2022, Vol.11, p.324-324
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Showing 1 to 20 of 110 results

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A "REVOLUTION" IN GENETIC TESTING

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

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Cellular imaging of inherited retinal diseases using adaptive optics

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The Molecular Basis of Human Anophthalmia and Microphthalmia

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PAX6 disease models for aniridia

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P-11 Characterisation of human PHARC fibroblasts harbouring a nonsense mutation in ABHD12 gene and subsequent generation of a iPSC line

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Anophthalmia including next-generation sequencing-based approaches

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

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The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders

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Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy

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

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

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Practice patterns in reporting and documentation of Charles Bonnet syndrome: a retrospective review following COVID-19

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A stable NTN1 fluorescent reporter chicken reveals cell specific molecular signatures during optic fissure closure

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Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project

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Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia

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Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies

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OP-08 Analysing the transcriptome of choroideremia patient-derived iPSC-RPE

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Identification of the regulatory circuit governing corneal epithelial fate determination and disease

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Efficient embryoid-based method to improve generation of optic vesicles from human induced pluripotent stem cells [version 1; peer review: 2 approved]

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