Associated Papers
Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2025
Uncovering the molecular mechanisms of amelanotic/hypopigmented primary cutaneous melanoma.
Sturm RA et al.
The British Journal of Dermatology, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
Diallo M et al.
International Journal of Molecular Sciences, 2024
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Computational screening of disease-associated mutations in OCA2 gene.
Kamaraj B et al.
Cell Biochemistry and Biophysics, 2014
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR et al.
Human Mutation, 2013
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Hutton SM et al.
The Journal of Investigative Dermatology, 2008
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
Hutton SM et al.
Investigative Ophthalmology & Visual Science, 2008
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
Jannot AS et al.
European Journal of Human Genetics : Ejhg, 2005
P gene as an inherited biomarker of human eye color.
Rebbeck TR et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2002
Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.
Spritz RA et al.
American Journal of Medical Genetics, 1997
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
Spritz RA et al.
Human Mutation, 1997