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Quoted phrase not found in phrase index: "Cone-rod dystrophy 24"
Page 1
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
Cyclic nucleotide-gated channel beta1 (CNGB1) encodes the 240-kDa beta subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa …
Cyclic nucleotide-gated channel beta1 (CNGB1) encodes the 240-kDa beta subunit of the rod photoreceptor cyclic nucleotide-gated ion c …
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M. Rodriguez-Martinez AC, et al. Int J Mol Sci. 2023 Sep 11;24(18):13932. doi: 10.3390/ijms241813932. Int J Mol Sci. 2023. PMID: 37762234 Free PMC article.
When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). ...
When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), r …
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P. Almutairi F, et al. Acta Ophthalmol. 2021 Sep;99(6):581-591. doi: 10.1111/aos.14693. Epub 2020 Dec 26. Acta Ophthalmol. 2021. PMID: 33369259 Free article. Review.
Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone-rod synaptic disease, O …
Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in a …
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ. Kim DG, et al. Genes (Basel). 2023 May 8;14(5):1057. doi: 10.3390/genes14051057. Genes (Basel). 2023. PMID: 37239417 Free PMC article.
This study aimed to investigate the clinical characteristics of Korean patients with retinal dystrophy associated with pathogenic variants of cone rod homeobox-containing gene (CRX). ...Eleven patients with CRX-RD were included in this study. Six patients wit …
This study aimed to investigate the clinical characteristics of Korean patients with retinal dystrophy associated with pathogenic var …
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.
A range of chorioretinal dystrophies that principally affect the central retina have recently been associated with either specific genetic mutations or mapped to refined genomic loci. ...Other conditions such as Stargardt's disease, Best's disease, pattern dystrophy …
A range of chorioretinal dystrophies that principally affect the central retina have recently been associated with either specific ge …
Retinal vessel oximetry in children with inherited retinal diseases.
Della Volpe Waizel M, Scholl HPN, Valmaggia C, Todorova MG. Della Volpe Waizel M, et al. Acta Ophthalmol. 2021 Feb;99(1):52-60. doi: 10.1111/aos.14466. Epub 2020 Jun 22. Acta Ophthalmol. 2021. PMID: 32573052 Free article.
RESULTS: In general, children suffering from IRDs differed from controls when the A-SO(2) and A-V SO(2) were taken into account: both the A-SO(2) and the A-V SO(2) were significantly increased (p = 0.012). In subgroup analyses, children suffering from rod-cone dy …
RESULTS: In general, children suffering from IRDs differed from controls when the A-SO(2) and A-V SO(2) were taken into account: both the A- …
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.
Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R. Zhu T, et al. Am J Ophthalmol. 2023 Apr;248:96-106. doi: 10.1016/j.ajo.2022.11.023. Epub 2022 Dec 7. Am J Ophthalmol. 2023. PMID: 36493848
RESULTS: This study included 37 IRD patients from 32 families and 24 patients with SCP from 22 pedigrees. Four retinal dystrophy phenotypes were confirmed: Leber congenital amaurosis (LCA, 46/61), early-onset severe retinal dystrophy (EOSRD, 4/61), retinitis …
RESULTS: This study included 37 IRD patients from 32 families and 24 patients with SCP from 22 pedigrees. Four retinal dystrophy …
Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO. Alsalamah AK, et al. Middle East Afr J Ophthalmol. 2020 Jul 20;27(2):86-90. doi: 10.4103/meajo.MEAJO_106_20. eCollection 2020 Apr-Jun. Middle East Afr J Ophthalmol. 2020. PMID: 32874040 Free PMC article.
RESULTS: Out of 137 patients, 9 probands (6.6%) had an electronegative ERG. The mean age at presentation was 24 years (range 5-48 years), and five patients (55.6%) were male. The final clinical diagnoses were congenital stationary night blindness (CSNB) (two TRPM1-related …
RESULTS: Out of 137 patients, 9 probands (6.6%) had an electronegative ERG. The mean age at presentation was 24 years (range 5-48 yea …
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Ganapathi M, Thomas-Wilson A, Buchovecky C, Dharmadhikari A, Barua S, Lee W, Ruan MZC, Soucy M, Ragi S, Tanaka J, Clark LN, Naini AB, Liao J, Mansukhani M, Tsang S, Jobanputra V. Ganapathi M, et al. Sci Rep. 2022 Jun 7;12(1):9358. doi: 10.1038/s41598-022-13026-2. Sci Rep. 2022. PMID: 35672425 Free PMC article.
Variants from ES were filtered, prioritized, and classified using the ACMG recommendations. Clinical diagnosis of the individuals included rod-cone dystrophy (60%), macular dystrophy (20%), cone-rod dystrophy (9%), cone d …
Variants from ES were filtered, prioritized, and classified using the ACMG recommendations. Clinical diagnosis of the individuals included …
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR. Wawrocka A, et al. Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018. Mol Vis. 2018. PMID: 29769798 Free PMC article.
PURPOSE: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly h …
PURPOSE: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated famili …
41 results