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References from Assessing Foveal Structure in Individuals with TYR R402Q and S192Y Hypomorphic Alleles. Local targets link to admitted publications; unresolved targets remain external evidence.
The primate fovea: structure, function and development
10.1016/j.preteyeres.2018.03.006 · 2018 · External reference
Adaptation of the central retina for high acuity vision: Cones, the fovea, and the avascular zone
10.1016/j.preteyeres.2013.01.005 · 2013 · External reference
Relationship between foveal cone specialization and pit morphology in albinism
10.1167/iovs.13-13217 · 2014 · External reference
Foveal avascular zone and its relationship to foveal pit shape
10.1097/opx.0b013e3182504227 · 2012 · External reference
Foveal shape and structure in a normal population
10.1167/iovs.10-7005 · 2011 · External reference
Variability of foveal avascular zone metrics derived from optical coherence tomography angiography images
10.1167/tvst.7.5.20 · 2018 · External reference
A comparison of macular structure imaged by optical coherence tomography in preterm and full-term children
10.1167/iovs.06-1199 · 2007 · External reference
Outcome of prematurity and retinopathy of prematurity
10.1097/00055735-199606000-00009 · 1996 · External reference
The fovea in retinopathy of prematurity
10.1167/iovs.61.11.28 · 2020 · External reference
Arrested development: high-resolution imaging of foveal morphology in albinism
10.1016/j.visres.2010.02.003 · 2010 · External reference
Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography: a predictor of visual acuity?
10.1016/j.ophtha.2011.01.028 · 2011 · External reference
Race- and sex-related differences in retinal thickness and foveal pit morphology
10.1167/iovs.10-5886 · 2011 · External reference
Comparison of the morphology of the foveal pit between African and Caucasian populations
10.1167/tvst.9.5.24 · 2020 · External reference
Retinal pigment epithelial lipofuscin and melanin and choroidal melanin in human eyes
1986 · External reference
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1
10.1038/s41598-018-37272-5 · 2019 · External reference
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
10.1038/s41598-017-04401-5 · 2017 · External reference
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism
10.1002/ajmg.a.32654 · 2009 · External reference
Mild form of oculocutaneous albinism type 1: Phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene
10.1136/bjophthalmol-2018-312729 · 2019 · External reference
Oculocutaneous albinism type 1: Link between mutations, tyrosinase conformational stability, and enzymatic activity
10.1111/pcmr.12546 · 2017 · External reference
A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity
1991 · External reference
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients
10.1038/jid.2010.274 · 2011 · External reference
The mutational constraint spectrum quantified from variation in 141,456 humans
10.1038/s41586-020-2308-7 · 2020 · External reference
A new mass screening test for color-vision deficiencies in children
10.1002/1520-6378(2001)26:1+<::aid-col51>3.0.co;2-l · 2001 · External reference
Consistent and elastic registration of histological sections using vector-spline regularization
2006 · External reference
Fiji: An open-source platform for biological-image analysis
10.1038/nmeth.2019 · 2012 · External reference
NIH Image to ImageJ: 25 years of image analysis
10.1038/nmeth.2089 · 2012 · External reference
Preservation of the foveal avascular zone in achromatopsia despite the absence of a fully formed pit
10.1167/iovs.61.10.52 · 2020 · External reference
Assessing the influence of OCT-A device and scan size on retinal vascular metrics
10.1167/tvst.9.11.7 · 2020 · External reference
Visual acuity and foveal structure in eyes with fragmented foveal avascular zones
10.1016/j.oret.2019.11.014 · 2019 · External reference
Assessing the accuracy of foveal avascular zone measurements using optical coherence tomography angiography: segmentation and scaling
10.1167/tvst.6.3.16 · 2017 · External reference
Unresolved reference
2020 · External reference
Skin pigmentation, biogeographical ancestry and admixture mapping
10.1007/s00439-002-0896-y · 2003 · External reference
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images
2021 · External reference
In vivo foveal development using optical coherence tomography
10.1167/iovs.15-16542 · 2015 · External reference
Histologic development of the human fovea from midgestation to maturity
10.1016/j.ajo.2012.05.007 · 2012 · External reference
Maturation of the human fovea: correlation of spectral-domain optical coherence tomography findings with histology
10.1016/j.ajo.2012.05.004 · 2012 · External reference
Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity
10.1371/journal.pone.0084494 · 2014 · External reference
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
10.1002/humu.22315 · 2013 · External reference
Importance of nonsynonymous OCA2 variants in human eye color prediction
10.1002/mgg3.213 · 2016 · External reference
