Associated Papers
Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.
Johansson PA et al.
The Journal of Investigative Dermatology, 2026
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Ionova S et al.
Pigment Cell & Melanoma Research, 2026
Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2025
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
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
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH et al.
Investigative Ophthalmology & Visual Science, 2023
37707835 (PubMed )
Supplement: iovs-64-12-26_s001.xlsx › Feuil2
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
Moreno-Artero E et al.
Genes, 2022
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
Hovnik T et al.
Acta Chimica Slovenica, 2021
Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.
Kruijt CC et al.
Scientific Reports, 2021
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
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
Mauri L et al.
Gene, 2014
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.
Inagaki K et al.
Pigment Cell Research, 2006
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