Associated Papers
First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon.
Froment A et al.
Pigment Cell & Melanoma Research, 2026
Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.
Shihab RN et al.
Clinical Case Reports, 2025
Oculocutaneous albinism type 1B associated with allelic combination of a risk haplotype.
Nagy N et al.
Journal of Dermatological Science, 2025
Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
Shchagina O et al.
Biomedicines, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Genotype-Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism.
Bjeloš M et al.
Diagnostics (basel, Switzerland), 2024
The prevalence of autism among children with albinism.
Gunz S et al.
European Journal of Ophthalmology, 2024
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.
Woertz EN et al.
Investigative Ophthalmology & Visual Science, 2024
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH et al.
Investigative Ophthalmology & Visual Science, 2023
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
Loftus SK et al.
American Journal of Human Genetics, 2023
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.
Zhong Z et al.
Frontiers in Genetics, 2022
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
Hovnik T et al.
Acta Chimica Slovenica, 2021
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L et al.
Ophthalmic Genetics, 2021
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
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Chan HW et al.
Genes, 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
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
Zhong Z et al.
Pigment Cell & Melanoma Research, 2019
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
Baban A et al.
Bmc Medical Genetics, 2018
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom C et al.
Ophthalmic Genetics, 2018
Molecular characterization of a series of 990 index patients with albinism.
Lasseaux E et al.
Pigment Cell & Melanoma Research, 2018
Identification of TYR mutations in patients with oculocutaneous albinism.
Sun W et al.
Molecular Medicine Reports, 2018
Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.
Thomas MG et al.
European Journal of Human Genetics : Ejhg, 2017
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Mauri L et al.
Journal of Human Genetics, 2017
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
Gao J et al.
Cell & Bioscience, 2017
Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.
Yahalom C et al.
Ophthalmic Genetics, 2015
Retinal pigment epithelium findings in patients with albinism using wide-field polarization-sensitive optical coherence tomography.
Schütze C et al.
Retina (philadelphia, Pa.), 2014
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
Hutton SM et al.
Investigative Ophthalmology & Visual Science, 2008
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).
Chan PA et al.
Human Mutation, 2007
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
King RA et al.
Human Genetics, 2003
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
Oetting WS
Pigment Cell Research, 2000
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Ocular manifestations of metabolic disorders.
Iwata F et al.
Current Opinion in Ophthalmology, 1995
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.
Fukai K et al.
Nature Genetics, 1995