Associated Papers
Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.
Shihab RN et al.
Clinical Case Reports, 2025
A TYR-iffic discovery: Identification of a second TYR variant associated with acromelanism in dogs.
Van Buren SL et al.
Animal Genetics, 2025
The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.
Kohli S et al.
European Journal of Human Genetics : Ejhg, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH et al.
Investigative Ophthalmology & Visual Science, 2023
Abnormal foveal morphology in carriers of oculocutaneous albinism.
Kuht HJ et al.
The British Journal of Ophthalmology, 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 analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
Xu C et al.
Journal of Clinical Laboratory Analysis, 2021
Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.
Chuan Z et al.
Current Eye Research, 2021
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
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
Molecular genetic study of 59 Chinese Oculocutaneous albinism families.
Luo D et al.
European Journal of Medical Genetics, 2019
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
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
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Mauri L et al.
Journal of Human Genetics, 2017
Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.
Dolinska MB et al.
Pigment Cell & Melanoma Research, 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
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR et al.
Human Mutation, 2013
Mutational analysis of TYR gene and its structural consequences in OCA1A.
K B et al.
Gene, 2013
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.
Onojafe IF et al.
The Journal of Clinical Investigation, 2011
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
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
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
Spritz RA et al.
Human Mutation, 1997