Found: 41
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Whole genome sequencing data of multiple individuals of Pakistani descent.
- Published in:
- Scientific Data, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41597-020-00664-2
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- Publication type:
- Article
Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-19351-w
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- Publication type:
- Article
The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness.
- Published in:
- 2011
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- Publication type:
- Journal Article
Effects of calcium ion, calpains, and calcium channel blockers on retinitis pigmentosa.
- Published in:
- 2011
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- Publication type:
- Journal Article
An update on the genetics of Usher syndrome.
- Published in:
- 2011
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- Publication type:
- Journal Article
Leber's hereditary optic neuropathy-gene therapy: from benchtop to bedside.
- Published in:
- 2011
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- Publication type:
- Journal Article
Conditional gene targeting: dissecting the cellular mechanisms of retinal degenerations.
- Published in:
- 2011
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- Publication type:
- Journal Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
- Published in:
- Nature Genetics, 2010, v. 42, n. 2, p. 175, doi. 10.1038/ng.519
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- Publication type:
- Article
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
- Published in:
- Nature Genetics, 2001, v. 27, n. 1, p. 89, doi. 10.1038/83817
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- Publication type:
- Article
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0136561
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- Publication type:
- Article
A Degenerative Retinal Process in HIV-Associated Non-Infectious Retinopathy.
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074712
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- Publication type:
- Article
Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050205
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- Publication type:
- Article
Status of B-Vitamins and Homocysteine in Diabetic Retinopathy: Association with Vitamin-B12 Deficiency and Hyperhomocysteinemia.
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- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0026747
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- Publication type:
- Article
Rescue of Photoreceptor Degeneration by Curcumin in Transgenic Rats with P23H Rhodopsin Mutation.
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- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021193
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- Publication type:
- Article
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
- Published in:
- Human Genetics, 2018, v. 137, n. 6/7, p. 447, doi. 10.1007/s00439-018-1897-9
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- Publication type:
- Article
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 356, doi. 10.1007/s00439-005-0054-4
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- Publication type:
- Article
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy.
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- Human Genetics, 2000, v. 107, n. 1, p. 75, doi. 10.1007/s004390050014
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- Publication type:
- Article
A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.
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- Human Genetics, 2000, v. 106, n. 5, p. 531, doi. 10.1007/s004390050021
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- Publication type:
- Article
Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.
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- Molecular Vision, 2020, v. 26, p. 14
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- Publication type:
- Article
Association of severity of primary open-angle glaucoma with serum vitamin D levels in patients of African descent.
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- Molecular Vision, 2019, v. 25, p. 438
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- Publication type:
- Article
Impact of obesity with impaired glucose tolerance on retinal degeneration in a rat model of metabolic syndrome.
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- Molecular Vision, 2017, v. 23, p. 263
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- Publication type:
- Article
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
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- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
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- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants.
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- PLoS ONE, 2024, v. 19, n. 10, p. 1, doi. 10.1371/journal.pone.0307266
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- Publication type:
- Article
Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0100-8
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- Publication type:
- Article
Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-76026-0
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- Publication type:
- Article
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4741, doi. 10.1093/hmg/ddx356
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- Publication type:
- Article
Amissense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2483, doi. 10.1093/hmg/ddw113
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- Publication type:
- Article
Analysis of the ABCA4 genomic locus in Stargardt disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6797, doi. 10.1093/hmg/ddu396
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- Publication type:
- Article
Analysis of the ABCA4 genomic locus in Stargardt disease.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu396
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- Publication type:
- Article
A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2000, doi. 10.1093/hmg/ddr080
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- Publication type:
- Article
Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.
- Published in:
- 2019
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- Publication type:
- journal article
Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 189, doi. 10.1002/humu.24146
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- Article
Cover, Volume 42, Issue 2.
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- Human Mutation, 2021, v. 42, n. 2, p. i, doi. 10.1002/humu.24168
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- Publication type:
- Article
Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene.
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- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3929, doi. 10.1093/hmg/ddn295
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- Publication type:
- Article
Loss of functional ELOVL4 depletes very long-chain fatty acids (≥C28) and the unique ω-O-acylceramides in skin leading to neonatal death.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 5, p. 471, doi. 10.1093/hmg/ddl480
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- Publication type:
- Article
A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1461, doi. 10.3390/genes13081461
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- Publication type:
- Article
Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.
- Published in:
- Genes, 2017, v. 8, n. 9, p. 210, doi. 10.3390/genes8090210
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- Publication type:
- Article
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 423, doi. 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D
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- Publication type:
- Article
Late‐onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.
- Published in:
- Aging Cell, 2019, v. 18, n. 6, p. N.PAG, doi. 10.1111/acel.13011
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- Publication type:
- Article
Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190514
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- Publication type:
- Article