Associated Papers
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
Nagy N et al.
International Journal of Molecular Sciences, 2024
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L et al.
Ophthalmic Genetics, 2021
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.
Monfermé S et al.
The British Journal of Ophthalmology, 2019
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
Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.
Khordadpoor-Deilamani F et al.
Journal of Human Genetics, 2016
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
Khordadpoor-Deilamani F et al.
Molecular Vision, 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
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
Mutational analysis of TYR gene and its structural consequences in OCA1A.
K B et al.
Gene, 2013
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
Gargiulo A et al.
Investigative Ophthalmology & Visual Science, 2011
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
Contopoulos-Ioannidis D et al.
American Journal of Medical Genetics. Part A, 2008
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
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
Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).
Oetting WS et al.
Pigment Cell Research, 1994
Molecular genetics of oculocutaneous albinism.
Spritz RA
Human Molecular Genetics, 1994
Molecular genetics of oculocutaneous albinism.
Spritz RA
Seminars in Dermatology, 1993