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Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina.
- Published in:
- Journal of Pathology, 2023, v. 259, n. 4, p. 441, doi. 10.1002/path.6056
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- Publication type:
- Article
The Natural History of CNGB1 -Related Retinopathy: A Longitudinal Phenotypic Analysis.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6785, doi. 10.3390/ijms23126785
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- Publication type:
- Article
Investigating Biomarkers for USH2A Retinopathy Using Multimodal Retinal Imaging.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4198, doi. 10.3390/ijms23084198
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- Publication type:
- Article
Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12 -Related Retinopathies.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8863, doi. 10.3390/ijms22168863
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- Publication type:
- Article
The Landscape of Non-Viral Gene Augmentation Strategies for Inherited Retinal Diseases.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2318, doi. 10.3390/ijms22052318
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- Publication type:
- Article
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2190, doi. 10.3390/ijms22042190
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- Publication type:
- Article
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8 -Related Foveal Hypoplasia.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1130, doi. 10.3390/ijms22031130
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- Publication type:
- Article
Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 2, p. 232, doi. 10.3390/jcm10020232
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- Publication type:
- Article
Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 578, doi. 10.1002/ajmg.c.31837
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- Publication type:
- Article
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 762, doi. 10.1002/ajmg.c.31824
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- Article
Genes and the eye.
- Published in:
- 2005
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- Publication type:
- journal article
Genes and the eye.
- Published in:
- Journal of the Royal Society of Medicine, 2005, v. 98, n. 5, p. 206, doi. 10.1177/014107680509800509
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- Publication type:
- Article
A tense case--Carney's triad.
- Published in:
- 2004
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- Publication type:
- journal article
A tense case--Carnegie triad.
- Published in:
- Journal of the Royal Society of Medicine, 2004, v. 97, n. 11, p. 540, doi. 10.1177/014107680409701109
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- Publication type:
- Article
Violence--a noxious cocktail of genes and the environment.
- Published in:
- Journal of the Royal Society of Medicine, 2003, v. 96, n. 5, p. 211, doi. 10.1177/014107680309600502
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- Publication type:
- Article
'It would help people to help me': Acceptability of digital phenotyping among young people with visual impairment and their families.
- Published in:
- Digital Health, 2024, p. 1, doi. 10.1177/20552076231220804
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- Publication type:
- Article
Quantitative and Qualitative Features of Spectral-Domain Optical Coherence Tomography Provide Prognostic Indicators for Visual Acuity in Patients With Choroideremia.
- Published in:
- 2017
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- Publication type:
- journal article
Comparison of proteomic profiles in the zebrafish retina during experimental degeneration and regeneration.
- Published in:
- Scientific Reports, 2017, p. 44601, doi. 10.1038/srep44601
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- Publication type:
- Article
Response to Aslankurt et al. re: "Safety Profile of Stromal Hydration of Clear Corneal Incisions with Cefuroxime in the Mouse Model".
- Published in:
- 2017
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- Publication type:
- Letter
Safety Profile of Stromal Hydration of Clear Corneal Incisions with Cefuroxime in the Mouse Model.
- Published in:
- 2016
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- Publication type:
- journal article
A Natural History Study of RP2 -Related Retinopathy.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 23, p. 6877, doi. 10.3390/jcm11236877
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- Publication type:
- Article
Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 293, doi. 10.3390/biom13020293
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- Publication type:
- Article
Clinical utility gene card for: Choroideremia.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.183
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- Publication type:
- Article
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
- Published in:
- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10353-8
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- Publication type:
- Article
Practice patterns in reporting and documentation of Charles Bonnet syndrome: a retrospective review following COVID-19.
- Published in:
- Therapeutic Advances in Ophthalmology, 2024, p. 1, doi. 10.1177/25158414241232285
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- Publication type:
- Article
An overview of psychological and social factors in Charles Bonnet syndrome.
- Published in:
- Therapeutic Advances in Ophthalmology, 2021, p. 1, doi. 10.1177/25158414211034715
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- Publication type:
- Article
Practical guide to genetic screening for inherited eye diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2020, p. 1, doi. 10.1177/2515841420954592
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- Publication type:
- Article
Usher syndrome: clinical features, molecular genetics and advancing therapeutics.
- Published in:
- Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420952194
- By:
- Publication type:
- Article
Practical guide to genetic screening for inherited eye diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420954592
- By:
- Publication type:
- Article
Metabolism in the Zebrafish Retina.
- Published in:
- Journal of Developmental Biology, 2021, v. 9, n. 1, p. 10, doi. 10.3390/jdb9010010
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- Publication type:
- Article
The Molecular Basis of Human Anophthalmia and Microphthalmia.
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- Journal of Developmental Biology, 2019, v. 7, n. 3, p. 16, doi. 10.3390/jdb7030016
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- Publication type:
- Article
Retinal Angiography Findings in Male Infant With Incontinentia Pigmenti and Sickle Cell Trait.
- Published in:
- 2018
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- Publication type:
- journal article
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00335
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- Publication type:
- Article
A Newly Developed Web-Based Resource on Genetic Eye Disorders for Users With Visual Impairment (Gene.Vision): Usability Study.
- Published in:
- 2021
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- Publication type:
- journal article
Correction: A Newly Developed Web-Based Resource on Genetic Eye Disorders for Users With Visual Impairment (Gene.Vision): Usability Study.
- Published in:
- 2021
- By:
- Publication type:
- corrected article
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 191, doi. 10.1111/cge.13795
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- Publication type:
- Article
Identification of the regulatory circuit governing corneal epithelial fate determination and disease.
- Published in:
- PLoS Biology, 2023, v. 21, n. 10, p. 1, doi. 10.1371/journal.pbio.3002336
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- Publication type:
- Article
Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia.
- Published in:
- Antioxidants, 2023, v. 12, n. 9, p. 1694, doi. 10.3390/antiox12091694
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- Publication type:
- Article
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 11, p. 1882, doi. 10.1093/hmg/ddaa004
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- Publication type:
- Article
Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1865, doi. 10.1093/hmg/ddz028
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- Publication type:
- Article
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3416, doi. 10.1093/hmg/ddw184
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- Publication type:
- Article
Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 10, p. 2357, doi. 10.1093/hmg/dds056
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- Publication type:
- Article
Changes in Mitochondrial Size and Morphology in the RPE and Photoreceptors of the Developing and Ageing Zebrafish.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 22, p. 3542, doi. 10.3390/cells11223542
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- Publication type:
- Article
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.977806
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- Publication type:
- Article
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus--Management and molecular diagnostics.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.977806
- By:
- Publication type:
- Article
Heparin-Binding Epidermal-like Growth Factor (HB-EGF) Reduces Cell Death in an Organoid Model of Retinal Damage.
- Published in:
- Organoids, 2024, v. 3, n. 3, p. 148, doi. 10.3390/organoids3030010
- By:
- Publication type:
- Article
Practical guide to genetic screening for inherited eye diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420954592
- By:
- Publication type:
- Article
Usher syndrome: clinical features, molecular genetics and advancing therapeutics.
- Published in:
- Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420952194
- By:
- Publication type:
- Article
Think sight loss, think Charles Bonnet syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Letter
RNA-sequencing in ophthalmology research: considerations for experimental design and analysis.
- Published in:
- Therapeutic Advances in Ophthalmology, 2019, v. 11, p. N.PAG, doi. 10.1177/2515841419835460
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- Publication type:
- Article