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The research output of rod-cone dystrophy genetics.
Jaffal L, Mrad Z, Ibrahim M, Salami A, Audo I, Zeitz C, El Shamieh S. Jaffal L, et al. Orphanet J Rare Dis. 2022 Apr 23;17(1):175. doi: 10.1186/s13023-022-02318-5. Orphanet J Rare Dis. 2022. PMID: 35461258 Free PMC article. Review.
Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. ...On the publication level, the USA (26%), United Kingdom (10%), and Japan (7%) were the top 3 among very high HDI countries, while China (6%) and India (2%) ranked f …
Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. ...On the publication level, the U …
Cone rod dystrophies.
Hamel CP. Hamel CP. Orphanet J Rare Dis. 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. Orphanet J Rare Dis. 2007. PMID: 17270046 Free PMC article. Review.
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. ...It is likely that highly deleterious mutations in genes that otherwise cause RP or macular dystrophy may also lead to
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary ret
The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndr …
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, …
Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.
Karam A, Trottier Y. Karam A, et al. Adv Exp Med Biol. 2018;1049:197-218. doi: 10.1007/978-3-319-71779-1_9. Adv Exp Med Biol. 2018. PMID: 29427104 Review.
SCA7 is pathomechanistically related to the group of CAG/polyglutamine (polyQ) expansion disorders, which includes other SCAs (1-3, 6 and 17), Huntington's disease, spinal bulbar muscular atrophy and dentatorubro pallidoluysian atrophy. Two distinctive characteristics of S …
SCA7 is pathomechanistically related to the group of CAG/polyglutamine (polyQ) expansion disorders, which includes other SCAs (1-3, 6 …
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Guimaraes TAC, Georgiou M, Robson AG, Michaelides M. Guimaraes TAC, et al. Ophthalmic Genet. 2020 Jun;41(3):208-215. doi: 10.1080/13816810.2020.1766087. Epub 2020 May 22. Ophthalmic Genet. 2020. PMID: 32441199 Free PMC article. Review.
-associated retinopathy or "cone dystrophy with supernormal rod responses" is an autosomal recessive cone-rod dystrophy with pathognomonic ERG findings. ...
-associated retinopathy or "cone dystrophy with supernormal rod responses" is an autosomal recessive cone-rod dystro
ABCR unites what ophthalmologists divide(s).
van Driel MA, Maugeri A, Klevering BJ, Hoyng CB, Cremers FP. van Driel MA, et al. Ophthalmic Genet. 1998 Sep;19(3):117-22. doi: 10.1076/opge.19.3.117.2187. Ophthalmic Genet. 1998. PMID: 9810566 Review.
In addition, ABCR mutations were identified in families with recessive retinitis pigmentosa (RP), cone dystrophy (COD), and cone-rod dystrophy (CRD). In this review, we summarize these findings and propose a model which provides a framework to explain …
In addition, ABCR mutations were identified in families with recessive retinitis pigmentosa (RP), cone dystrophy (COD), and cone
Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.
Tran NM, Chen S. Tran NM, et al. Dev Dyn. 2014 Oct;243(10):1153-66. doi: 10.1002/dvdy.24151. Epub 2014 Jun 27. Dev Dyn. 2014. PMID: 24888636 Free PMC article. Review.
Mutations in the human CRX gene are associated with dominant inherited retinopathies Retinitis Pigmentosa (RP), Cone-Rod Dystrophy (CoRD), and Leber Congenital Amaurosis (LCA), of varying severity. ...RESULTS: Here we describe four different classes of diseas …
Mutations in the human CRX gene are associated with dominant inherited retinopathies Retinitis Pigmentosa (RP), Cone-Rod Dy
Diagnosis and classification of macular degenerations: an approach based on retinal function testing.
Scullica L, Falsini B. Scullica L, et al. Doc Ophthalmol. 2001 May;102(3):237-50. doi: 10.1023/a:1017562532731. Doc Ophthalmol. 2001. PMID: 11556487 Review.
Examined clinical phenotypes included: Stargardt disease/fundus flavimaculatus (St/FF), age-related maculopathy (ARM) and macular degeneration (AMD), pattern dystrophies (PD), Best vitelliform dystrophy (BVD), Sorsby's fundus dystrophy (SFD), autosomal cone- …
Examined clinical phenotypes included: Stargardt disease/fundus flavimaculatus (St/FF), age-related maculopathy (ARM) and macular degenerati …
Molecular genetics of central retinal dystrophies.
Moore AT, Evans K. Moore AT, et al. Aust N Z J Ophthalmol. 1996 Aug;24(3):189-98. doi: 10.1111/j.1442-9071.1996.tb01580.x. Aust N Z J Ophthalmol. 1996. PMID: 8913120 Review.
Other conditions such as Stargardt's disease, Best's disease, pattern dystrophy, cone dystrophy and cone-rod dystrophy have been mapped to different regions of the genome, however the underlying genetic mutations await identification. ...
Other conditions such as Stargardt's disease, Best's disease, pattern dystrophy, cone dystrophy and cone-rod
Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
Jakobsson C, Othman IS, Munier FL, Schorderet DF, Abouzeid H. Jakobsson C, et al. Klin Monbl Augenheilkd. 2014 Apr;231(4):405-10. doi: 10.1055/s-0034-1368221. Epub 2014 Apr 25. Klin Monbl Augenheilkd. 2014. PMID: 24771178 Review.
We observed photophobia only in the 8-year-old patient. The youngest affected had bilateral hyperopia of +3.50 and visual acuity of 1/60. The oldest two had visual acuity limited to hand movements in the right eye (OD) and counting fingers in the left eye (OS) for the olde …
We observed photophobia only in the 8-year-old patient. The youngest affected had bilateral hyperopia of +3.50 and visual acuity of 1 …
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