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

Year Number of Results
1975 2
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1988 1
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284 results

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Quoted phrase not found in phrase index: "Retinitis pigmentosa 40"
Page 1
Retinitis pigmentosa.
Hamel C. Hamel C. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. Orphanet J Rare Dis. 2006. PMID: 17032466 Free PMC article. Review.
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. ...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal …
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I. Sharon D, et al. Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31456290
On the basis of our estimation, these patients represent approximately 40% of Israeli IRD patients. To the best of our knowledge, this is, by far, the largest reported IRD cohort, and one of the first studies addressing the genetic analysis of IRD patients on a nationwide …
On the basis of our estimation, these patients represent approximately 40% of Israeli IRD patients. To the best of our knowledge, thi …
Electroretinograms.
Creel DJ. Creel DJ. Handb Clin Neurol. 2019;160:481-493. doi: 10.1016/B978-0-444-64032-1.00032-1. Handb Clin Neurol. 2019. PMID: 31277870 Review.
Full-field ERGs are recorded if one is most interested in the global health of the retina, such as in retinitis pigmentosa. A limitation of the full-field ERG is that the recording is a massed potential from the whole retina. Multifocal ERGs can map small scotomas i …
Full-field ERGs are recorded if one is most interested in the global health of the retina, such as in retinitis pigmentosa. A …
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK. Heath Jeffery RC, et al. Ophthalmic Genet. 2023 Aug;44(4):352-360. doi: 10.1080/13816810.2023.2196338. Epub 2023 Apr 4. Ophthalmic Genet. 2023. PMID: 37013444
BACKGROUND: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FTD) visual standards. ...Phenotype and genotype predictors for passing the standards warrant further investigation.Abbreviation: FTD, fitness …
BACKGROUND: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FT …
Next-generation sequencing and its application in diagnosis of retinitis pigmentosa.
Salmaninejad A, Motaee J, Farjami M, Alimardani M, Esmaeilie A, Pasdar A. Salmaninejad A, et al. Ophthalmic Genet. 2019 Oct;40(5):393-402. doi: 10.1080/13816810.2019.1675178. Ophthalmic Genet. 2019. PMID: 31755340 Review.
Retinitis Pigmentosa (RP) is a major cause of heritable human blindness with a high genetic heterogeneity. ...
Retinitis Pigmentosa (RP) is a major cause of heritable human blindness with a high genetic heterogeneity. ...
Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males.
Vinikoor-Imler LC, Simpson C, Narayanan D, Abbasi S, Lally C. Vinikoor-Imler LC, et al. Ophthalmic Genet. 2022 Oct;43(5):581-588. doi: 10.1080/13816810.2022.2109686. Epub 2022 Aug 25. Ophthalmic Genet. 2022. PMID: 36004681 Review.
BACKGROUND: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease predominantly affecting males. MATERIALS AND METHODS: A comprehensive literature review was conducted to determine the prevalence of retinitis pigmentosa GTPase regula …
BACKGROUND: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease predominantly affecting males. MATERIALS …
Optogenetics: Therapeutic spark in neuropathic pain.
Liu K, Wang L. Liu K, et al. Bosn J Basic Med Sci. 2019 Nov 8;19(4):321-327. doi: 10.17305/bjbms.2019.4114. Bosn J Basic Med Sci. 2019. PMID: 30995901 Free PMC article. Review.
Current regimen for the disease provides about 50% relief for only 40-60% of patients. Recent in vivo and in vitro studies demonstrate the potential therapeutic applications of optogenetics by manipulating the activity of neurons. ...
Current regimen for the disease provides about 50% relief for only 40-60% of patients. Recent in vivo and in vitro studies demonstrat …
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. CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In con …
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopath …
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. Invest Ophthalmol Vis Sci. 2023. PMID: 37466950 Free PMC article.
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IRDs) representing 50% of deaf-blindness. All subtypes include retinitis pigmentosa, sensorineural hearing loss, and vestibular …
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IR …
284 results