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A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.
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- BMC Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12863-020-00911-w
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- Article
An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed.
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- G3: Genes | Genomes | Genetics, 2016, v. 6, n. 9, p. 2687, doi. 10.1534/g3.116.027896
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- Article
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
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- Genes, 2023, v. 14, n. 1, p. 191, doi. 10.3390/genes14010191
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- Article
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
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- Genes, 2021, v. 12, n. 11, p. 1771, doi. 10.3390/genes12111771
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- Article
Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration.
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- Genes, 2019, v. 10, n. 5, p. 385, doi. 10.3390/genes10050385
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- Article
Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5940, doi. 10.3390/ijms25115940
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- Article
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
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- Molecular Vision, 2023, v. 29, p. 1
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- Article
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
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- Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 367, doi. 10.3390/biom14030367
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- Article
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
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- JAMA Ophthalmology, 2024, v. 142, n. 5, p. 463, doi. 10.1001/jamaophthalmol.2024.0660
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- Article
Cost‐effective smMIPs‐based sequencing to provide a genetic diagnosis for patients with retinitis pigmentosa, Leber congenital amaurosis and macular diseases.
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- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16316
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- Article
Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog.
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- PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0220761
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- Article
Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases.
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- Human Mutation, 2022, v. 43, n. 12, p. 2234, doi. 10.1002/humu.24489
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- Article
Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed.
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- BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0433-y
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- Article