Associated Papers
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.
Woertz EN et al.
Investigative Ophthalmology & Visual Science, 2024
38441889 (PubMed )
Supplement: iovs-65-3-3_s001.pdf
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
Loftus SK et al.
American Journal of Human Genetics, 2023
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.
Cao Y et al.
Bmc Medical Genomics, 2022
35842615 (PubMed )
Supplement: 12920_2022_1305_MOESM1_ESM.docx
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM et al.
Translational Vision Science & Technology, 2021
34111268 (PubMed )
Supplement: tvst-10-6-22_s007.pdf
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
Bibi N et al.
Frontiers in Genetics, 2020
32849781 (PubMed )
Supplement: Data_Sheet_2.docx
Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.
Farney SK et al.
Journal of Analytical & Pharmaceutical Research, 2018
Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation.
Mondal M et al.
The British Journal of Dermatology, 2016
A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.
Badens C et al.
Journal of Dermatological Science, 2006
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
King RA et al.
Human Genetics, 2003
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