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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1990 1
1993 1
1999 1
2000 1
2004 2
2009 2
2012 1
2013 1
2014 2
2015 1
2016 2
2018 1
2019 1
2022 2
2024 0

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19 results

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Page 1
Blue cone monochromacy: causative mutations and associated phenotypes.
Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ. Gardner JC, et al. Mol Vis. 2009;15:876-84. Epub 2009 May 1. Mol Vis. 2009. PMID: 19421413 Free PMC article.
The genotype in the family with evidence of a slowly progressive phenotype represents a novel BCM mutation. The deleted exon 2 in this family is not predicted to result in a shift in the reading frame, therefore we hypothesize that an abnormal opsin protein product may acc …
The genotype in the family with evidence of a slowly progressive phenotype represents a novel BCM mutation. The deleted exon 2 in this famil …
Molecular genetics of color-vision deficiencies.
Deeb SS. Deeb SS. Vis Neurosci. 2004 May-Jun;21(3):191-6. doi: 10.1017/s0952523804213244. Vis Neurosci. 2004. PMID: 15518188 Review.
Analysis of the gene order in arrays of normal and deutan subjects indicates that only the two most proximal genes of the array contribute to the color-vision phenotype. This is supported by the observation that only the first two genes of the array are expressed in the hu …
Analysis of the gene order in arrays of normal and deutan subjects indicates that only the two most proximal genes of the array contribute t …
Molecular genetics of colour vision deficiencies.
Deeb SS. Deeb SS. Clin Exp Optom. 2004 Jul;87(4-5):224-9. doi: 10.1111/j.1444-0938.2004.tb05052.x. Clin Exp Optom. 2004. PMID: 15312026 Free article. Review.
Only the first two pigment genes of the L/M array are expressed in the retina and, therefore, need to be considered in predicting colour vision. A common single amino acid polymorphism (serine or alanine) at position 180 of the L-pigment plays an important role both in var …
Only the first two pigment genes of the L/M array are expressed in the retina and, therefore, need to be considered in predicting col …
Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.
Ayyagari R, Kakuk LE, Coats CL, Bingham EL, Toda Y, Felius J, Sieving PA. Ayyagari R, et al. Mol Vis. 1999 Jul 28;5:13. Mol Vis. 1999. PMID: 10427103 Free article.
PURPOSE: To describe unusual macular abnormalities in a family with blue cone monochromacy (BCM, or X-linked incomplete achromatopsia) and deletion of about 9.5 kb comprising part of the red pigment gene and the region upstream of the red pigment gene. ...However, l …
PURPOSE: To describe unusual macular abnormalities in a family with blue cone monochromacy (BCM, or X-linked incomplete achrom …
Vitritis in pediatric genetic retinal disorders.
Stunkel M, Bhattarai S, Kemerley A, Stone EM, Wang K, Mullins RF, Drack AV. Stunkel M, et al. Ophthalmology. 2015 Jan;122(1):192-9. doi: 10.1016/j.ophtha.2014.07.037. Epub 2014 Sep 10. Ophthalmology. 2015. PMID: 25217415 Free PMC article.
PURPOSE: To determine which types of pediatric retinal degeneration are associated with inflammatory cells in the anterior vitreous. DESIGN: Retrospective, observational study in humans. METHODS: Retrospective chart review was performed for pediatric patients with suspecte …
PURPOSE: To determine which types of pediatric retinal degeneration are associated with inflammatory cells in the anterior vitreous. DESIGN: …
Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.
Cai B, Li Z, Sun S, Wang L, Chen L, Yang J, Li X. Cai B, et al. Ophthalmic Genet. 2019 Feb;40(1):43-48. doi: 10.1080/13816810.2018.1561902. Epub 2019 Jan 7. Ophthalmic Genet. 2019. PMID: 30614359
To clarify the diagnosis, the clinical symptoms of the patient were observed and analyzed in combination with comprehensive ophthalmologic examinations. RESULTS: Genetic analysis identified the presence of novel double heterozygous of c.361G>A; p.E121K in NR2E3, a gene …
To clarify the diagnosis, the clinical symptoms of the patient were observed and analyzed in combination with comprehensive ophthalmo …
Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations.
Sumaroka A, Garafalo AV, Cideciyan AV, Charng J, Roman AJ, Choi W, Saxena S, Aksianiuk V, Kohl S, Wissinger B, Jacobson SG. Sumaroka A, et al. Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):5762-5772. doi: 10.1167/iovs.18-25280. Invest Ophthalmol Vis Sci. 2018. PMID: 30516820
PURPOSE: To compare the phenotype of blue cone monochromacy (BCM) caused by large deletion mutations with those having the C203R missense mutation. METHODS: BCM patients with large deletion mutations (n = 21; age range, 5-60 years), and with the C203R missense mutat …
PURPOSE: To compare the phenotype of blue cone monochromacy (BCM) caused by large deletion mutations with those having the C20 …
Molecular genetics of human blue cone monochromacy.
Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al. Nathans J, et al. Science. 1989 Aug 25;245(4920):831-8. doi: 10.1126/science.2788922. Science. 1989. PMID: 2788922
Blue cone monochromacy is a rare X-linked disorder of color vision characterized by the absence of both red and green cone sensitivities. In 12 of 12 families carrying this trait, alterations are observed in the red and green visual pigment gene cluster. The …
Blue cone monochromacy is a rare X-linked disorder of color vision characterized by the absence of both red and green cone sen …
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
Stingl K, Baumann B, De Angeli P, Vincent A, Héon E, Cordonnier M, De Baere E, Raskin S, Sato MT, Shiokawa N, Kohl S, Wissinger B. Stingl K, et al. Int J Mol Sci. 2022 Jun 20;23(12):6868. doi: 10.3390/ijms23126868. Int J Mol Sci. 2022. PMID: 35743313 Free PMC article.
Here we report the identification of a novel exon 3 haplotype, G-C-G-A-T-T-G-G (referring to nucleotide variants at cDNA positions c.453, c.457, c.465, c.511, c.513, c.521, c.532, and c.538) deduced to encode a pigment with the amino acid residues L-I-V-V-A at positions p.153, p. …
Here we report the identification of a novel exon 3 haplotype, G-C-G-A-T-T-G-G (referring to nucleotide variants at cDNA positions c.453, c. …
Genetic heterogeneity among blue-cone monochromats.
Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR, et al. Nathans J, et al. Am J Hum Genet. 1993 Nov;53(5):987-1000. Am J Hum Genet. 1993. PMID: 8213841 Free PMC article.
Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of blue-cone monochromacy were examined for rearrangements in the tandem array of genes encoding the red- and green-cone pigments. ...Two other point mutations were …
Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of blue-cone monochromacy …
19 results