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Randomized trial of bilateral gene therapy injection for m.11778G > A MT-ND4 Leber optic neuropathy.
- Published in:
- 2023
- By:
- Publication type:
- journal article
The human visual cortex responds to gene therapy-mediated recovery of retinal function.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2855, doi. 10.1002/ajmg.a.34264
- By:
- Publication type:
- Article
Normalization of generalized retinal function and progression of maculopathy after cessation of therapy in a case of severe hydroxychloroquine retinopathy with 19 years follow-up.
- Published in:
- Documenta Ophthalmologica, 2010, v. 120, n. 3, p. 251, doi. 10.1007/s10633-010-9220-7
- By:
- Publication type:
- Article
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
- Published in:
- Scientific Reports, 2016, p. 28253, doi. 10.1038/srep28253
- By:
- Publication type:
- Article
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.
- Published in:
- Scientific Reports, 2016, p. 21307, doi. 10.1038/srep21307
- By:
- Publication type:
- Article
Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 13, p. 3727, doi. 10.3390/jcm11133727
- By:
- Publication type:
- Article
Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 1, p. 122, doi. 10.3390/biom14010122
- By:
- Publication type:
- Article
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.251
- By:
- Publication type:
- Article
RNA-based therapies in inherited retinal diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2022, v. 14, p. 1, doi. 10.1177/25158414221134602
- By:
- Publication type:
- Article
RNA-based therapies in inherited retinal diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2022, p. 1, doi. 10.1177/25158414221134602
- By:
- Publication type:
- Article
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
- Published in:
- PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0221829
- By:
- Publication type:
- Article
Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.
- Published in:
- Current Issues in Molecular Biology, 2024, v. 46, n. 9, p. 9998, doi. 10.3390/cimb46090597
- By:
- Publication type:
- Article
Genetic testing and diagnosis of inherited retinal diseases.
- Published in:
- 2021
- By:
- Publication type:
- journal article
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 3, p. 892, doi. 10.1093/brain/awq373
- By:
- Publication type:
- Article
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 74, doi. 10.1111/cge.13751
- By:
- Publication type:
- Article
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 426, doi. 10.1111/cge.13673
- By:
- Publication type:
- Article
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.
- Published in:
- Brain Pathology, 2018, v. 28, n. 6, p. 822, doi. 10.1111/bpa.12620
- By:
- Publication type:
- Article
SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 568, doi. 10.1038/jid.2013.360
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- Publication type:
- Article
Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 581, doi. 10.1038/sj.jid.5700610
- By:
- Publication type:
- Article
Gene Therapy for Inherited Retinal Disease: Long-Term Durability of Effect.
- Published in:
- Ophthalmic Research, 2023, v. 66, n. 1, p. 179, doi. 10.1159/000526317
- By:
- Publication type:
- Article
Colour Vision in Stargardt Disease.
- Published in:
- Ophthalmic Research, 2015, v. 54, n. 4, p. 181, doi. 10.1159/000438906
- By:
- Publication type:
- Article
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 1, p. 14, doi. 10.1002/mgg3.109
- By:
- Publication type:
- Article
A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95258-2
- By:
- Publication type:
- Article
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80400-3
- By:
- Publication type:
- Article
Vitreous Hemorrhage as Presenting Sign of Retinal Arteriovenous Malformation.
- Published in:
- Case Reports in Ophthalmological Medicine, 2020, p. 1, doi. 10.1155/2020/8858242
- By:
- Publication type:
- Article
Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 1, p. 230, doi. 10.1093/hmg/ddu441
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- Publication type:
- Article
Abnormal retinal development associated with FRMD7 mutations.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4086, doi. 10.1093/hmg/ddu122
- By:
- Publication type:
- Article
Reversible Visual Deficit and Corpus callosum Lesions due to Metronidazole Toxicity.
- Published in:
- European Neurology, 2005, v. 53, n. 2, p. 93, doi. 10.1159/000085506
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- Publication type:
- Article
Anterior scleral thickness in Marfan syndrome: A quantitative analysis.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, n. 7, p. e1050, doi. 10.1111/aos.16721
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- Publication type:
- Article
The corneoscleral shape in Marfan syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 4, p. 405, doi. 10.1111/aos.14636
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- Publication type:
- Article
Human case.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8298
- By:
- Publication type:
- Article
Antisense oligonucleotide treatment in CEP290‐related leber congenital amaurosis.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8296
- By:
- Publication type:
- Article
Is oral moxifloxacin associated with bilateral acute iris transillumination?
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Analysis of <italic>KERA</italic> in four families with cornea plana identifies two novel mutations.
- Published in:
- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 1, p. e87, doi. 10.1111/aos.13484
- By:
- Publication type:
- Article
Do not turn a blind eye to alkyl nitrite (poppers)!
- Published in:
- Acta Ophthalmologica (1755375X), 2016, v. 94, n. 1, p. e82, doi. 10.1111/aos.12753
- By:
- Publication type:
- Article
Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS).
- Published in:
- Acta Ophthalmologica (1755375X), 2012, v. 90, n. 3, p. e239, doi. 10.1111/j.1755-3768.2011.02142.x
- By:
- Publication type:
- Article
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170038
- By:
- Publication type:
- Article
US Health Resource Utilization and Cost Burden Associated with Choroideremia.
- Published in:
- Clinical Ophthalmology, 2021, v. 15, p. 3459, doi. 10.2147/OPTH.S311844
- By:
- Publication type:
- Article
A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy.
- Published in:
- Clinical Ophthalmology, 2021, v. 15, p. 939, doi. 10.2147/OPTH.S292527
- By:
- Publication type:
- Article
Cover, Volume 42, Issue 2.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. ii, doi. 10.1002/humu.24169
- By:
- Publication type:
- Article
New variants and in silico analyses in GRK1 associated Oguchi disease.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 164, doi. 10.1002/humu.24140
- By:
- Publication type:
- Article
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 539, doi. 10.1002/humu.23713
- By:
- Publication type:
- Article
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1366, doi. 10.1002/humu.23606
- By:
- Publication type:
- Article
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5′UTR Mutations and Copy-Number Variations of NMNAT1.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1188, doi. 10.1002/humu.22899
- By:
- Publication type:
- Article
An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 39, doi. 10.1002/humu.22716
- By:
- Publication type:
- Article
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. E1709, doi. 10.1002/humu.21336
- By:
- Publication type:
- Article
CEP290, a gene with many faces: mutation overview and presentation of CEP290 base.
- Published in:
- 2010
- By:
- Publication type:
- Other