Associated Papers
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Ionova S 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
Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.
Pataccini G et al.
Scientific Reports, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study.
Kaminer Abargel M et al.
Plos One, 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
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.
Bacci GM et al.
Scientific Reports, 2024
After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.
Serrano-González J et al.
Molecular Genetics & Genomic Medicine, 2024
Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.
Cárdenas WA et al.
Plos One, 2024
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH et al.
Investigative Ophthalmology & Visual Science, 2023
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
Mendez R et al.
Ophthalmic Genetics, 2021
Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.
Schidlowski L et al.
Frontiers in 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
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
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.
Yahalom C et al.
Ophthalmic Genetics, 2015
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
Khordadpoor-Deilamani F et al.
Molecular Vision, 2015
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
Urtatiz O et al.
Journal of Dermatological Science, 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
The mechanism of Cu+ transport ATPases: interaction with CU+ chaperones and the role of transient metal-binding sites.
Padilla-Benavides T et al.
The Journal of Biological Chemistry, 2013
Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.
Rodríguez-Agramonte F et al.
Boletin De La Asociacion Medica De Puerto Rico, 2013
[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
Sanabria D et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2012
Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.
Altarescu G et al.
Molecular Biology International, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.
Rosenmann A et al.
Prenatal Diagnosis, 2009
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
Oetting WS et al.
American Journal of Medical Genetics. Part A, 2009
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
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
Santiago Borrero PJ et al.
The Journal of Investigative Dermatology, 2006
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
Opitz S et al.
Human Mutation, 2004
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
King RA et al.
Human Genetics, 2003
Epidemiology of hereditary ocular disorders.
Rosenberg T
Developments in Ophthalmology, 2003
Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
Camand O et al.
Human Mutation, 2001
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
Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.
Tsai CH et al.
Human Mutation, 1999