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■ Abbreviation / Long Form : OA / ocular albinism

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Total Number of Papers: 23
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Abbreviation:   OA  (>> Co-occurring Abbreviation)
Long Form:   ocular albinism
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2019 A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1. OCA
2019 Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. HPS, NGS, OCA
2017 Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function. PR, RPE, RRD
2017 Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). OCA, TYR, TYR
2017 [Oculocutaneous and ocular albinism]. OCA
2015 Dopamine signaling regulates the projection patterns in the mouse chiasm. D1A, DA, DN, L-DOPA, OA1, OC, OS, OT, RGC, VT, Zic2
2014 Concentric macular rings sign in patients with foveal hypoplasia. IRR, OCA, OCT
2014 In silico analysis of miRNA-mediated gene regulation in OCA and OA genes. OCA, SNPs
2014 Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. RPE, SD-OCT
10  2012 Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings. AROA, OCA
11  2011 Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. GPR143, MC1R, OCA, TYR
12  2010 Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. GPR143, MATP, OCA, SLC45A2, SNP, TYRP1
13  2009 Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. OCT
14  2009 Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. WS
15  2006 Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database. CHS, GOF, GS, HPS, HPSD, OCA, USH1B
16  2005 Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? CSNB
17  1999 Congenital motor nystagmus linked to Xq26-q27. BCM, CMN, CSNB
18  1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. OCA, TYR, TYRP1
19  1998 OA1 mutations and deletions in X-linked ocular albinism. ---
20  1998 X-linked ocular albinism: prevalence and mutations--a national study. XLOA
21  1997 Albinism: an update. OCA
22  1997 Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). AROA, WS, WS2
23  1994 Molecular genetics of oculocutaneous albinism. OCA