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Quoted phrase not found in phrase index: "Retinitis pigmentosa 60"
Page 1
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM. Zampaglione E, et al. Genet Med. 2020 Jun;22(6):1079-1087. doi: 10.1038/s41436-020-0759-8. Epub 2020 Feb 10. Genet Med. 2020. PMID: 32037395 Free PMC article.
PURPOSE: Current sequencing strategies can genetically solve 55-60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing. ...
PURPOSE: Current sequencing strategies can genetically solve 55-60% of inherited retinal degeneration (IRD) cases, despite recent pro …
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
The most common inheritance pattern in our cohort is autosomal recessive (60% of families). The most common retinal phenotype is retinitis pigmentosa (43%), followed by Stargardt disease and cone/cone-rod dystrophy. ...
The most common inheritance pattern in our cohort is autosomal recessive (60% of families). The most common retinal phenotype is r …
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y. Sun T, et al. Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. Invest Ophthalmol Vis Sci. 2018. PMID: 29625443
Overall, 132 distinct disease-causing mutations involving seven USH (ABHD12, CDH23, GPR98, MYO7A, PCDH15, USH1C, and USH2A) genes; 5 other retinal degeneration genes (CHM, CNGA1, EYS, PDE6B, and TULP1); and 1 nonsyndromic hearing loss gene (MYO15A) were identified, and 78 were no …
Overall, 132 distinct disease-causing mutations involving seven USH (ABHD12, CDH23, GPR98, MYO7A, PCDH15, USH1C, and USH2A) genes; 5 other r …
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS. Patel N, et al. Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10. Genet Med. 2016. PMID: 26355662 Free article.
We also performed mapping studies and exome sequencing on familial and on syndromic RD patients who tested negative on the panel. RESULTS: Our panel identified the likely causal mutation in >60% of the 292 RD families tested. Mapping studies on all 162 familial RD patie …
We also performed mapping studies and exome sequencing on familial and on syndromic RD patients who tested negative on the panel. RESULTS: O …
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T. Ma J, et al. Hum Genomics. 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. Hum Genomics. 2023. PMID: 36597107 Free PMC article.
The two genes with the highest mutation frequency were GJB2 and SLC26A4, which accounted for 28.5% (122/428) of positive patients. We showed that more than 60.3% of coding variants were rare and novel. Of the variants that we detected, 80.0% were in coding regions, 17.9% w …
The two genes with the highest mutation frequency were GJB2 and SLC26A4, which accounted for 28.5% (122/428) of positive patients. We showed …
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A. Chatterjee S, et al. Indian J Ophthalmol. 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. Indian J Ophthalmol. 2021. PMID: 34146021 Free PMC article.
PURPOSE: The aim of this study was to evaluate visual outcomes of cataract surgery in patients with retinitis pigmentosa. METHODS: This retrospective case series includes a review of the medical records of all patients with retinitis pigmentosa undergo …
PURPOSE: The aim of this study was to evaluate visual outcomes of cataract surgery in patients with retinitis pigmentosa. METH …
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F. El-Hattab AW, et al. Cell Calcium. 2016 Sep;60(3):199-206. doi: 10.1016/j.ceca.2016.03.003. Epub 2016 Mar 4. Cell Calcium. 2016. PMID: 26996063 Review.
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.
CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast to typical retinitis pigmentosa (RP), also called the rod cone dystrophies (RCDs) resulting from the primary loss in rod phot …
CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast …
Corneal characteristics in patients with retinitis pigmentosa.
Zeki Fikret C, Ucgun NI, Karaca EE, Evren Kemer O. Zeki Fikret C, et al. Photodiagnosis Photodyn Ther. 2023 Jun;42:103554. doi: 10.1016/j.pdpdt.2023.103554. Epub 2023 Apr 6. Photodiagnosis Photodyn Ther. 2023. PMID: 37030435
BACKGROUND: To evaluate corneal topography and specular microscopic findings in patients with retinitis pigmentosa. METHODS: One hundred and two eyes of 51 patients with retinitis pigmentosa and 60 eyes of 30 healty subjects were included in our …
BACKGROUND: To evaluate corneal topography and specular microscopic findings in patients with retinitis pigmentosa. METHODS: O …
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 …
235 results