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Quoted phrase not found in phrase index: "Cone-rod dystrophy 22"
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.
The NGS data were used to detect CNVs with ExomeDepth and gCNV and the results were compared with CNV detection with a single-nucleotide polymorphism (SNP) array. Likely causal CNV predictions were validated by quantitative polymerase chain reaction (qPCR). ...
The NGS data were used to detect CNVs with ExomeDepth and gCNV and the results were compared with CNV detection with a single-nucleotide pol …
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG. Ma DJ, et al. BMC Med Genomics. 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. BMC Med Genomics. 2021. PMID: 33691693 Free PMC article.
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines, in silico prediction tools, published literature, and compatibility wit …
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Associati …
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK. Chiu W, et al. Int J Mol Sci. 2021 Apr 26;22(9):4534. doi: 10.3390/ijms22094534. Int J Mol Sci. 2021. PMID: 33926102 Free PMC article. Review.
Inherited retinal dystrophies (IRDs) are a group of rare eye diseases caused by gene mutations that result in the degradation of cone and rod photoreceptors or the retinal pigment epithelium. ...Understanding the gene therapy development for LCA may accelerat …
Inherited retinal dystrophies (IRDs) are a group of rare eye diseases caused by gene mutations that result in the degradation of c …
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M. Georgiou M, et al. Ophthalmology. 2023 Apr;130(4):413-422. doi: 10.1016/j.ophtha.2022.11.015. Epub 2022 Nov 22. Ophthalmology. 2023. PMID: 36423731 Free PMC article.
On the basis of the World Health Organization visual impairment criteria, 18 patients (34%) had low vision. The majority (17/22) showed electroretinogram (ERG) evidence of a rod-cone dystrophy. ...The majority presented with early-onset severe retinal …
On the basis of the World Health Organization visual impairment criteria, 18 patients (34%) had low vision. The majority (17/22) show …
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM. Smirnov V, et al. Int J Mol Sci. 2021 Jun 15;22(12):6410. doi: 10.3390/ijms22126410. Int J Mol Sci. 2021. PMID: 34203883 Free PMC article.
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. …
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy …
Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.
Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K. Raming K, et al. Am J Ophthalmol. 2022 Feb;234:274-284. doi: 10.1016/j.ajo.2021.07.032. Epub 2021 Aug 2. Am J Ophthalmol. 2022. PMID: 34352251
PURPOSE: To elucidate morphological determinants of rod and cone dysfunction in Sorsby fundus dystrophy (SFD), and to systematically compare visual function tests for interventional trials. ...RESULTS: Although photopic BCVA was normative in SFD, LLVA was imp …
PURPOSE: To elucidate morphological determinants of rod and cone dysfunction in Sorsby fundus dystrophy (SFD), and to s …
Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.
Kim DJ, Woo SJ, Joo K. Kim DJ, et al. Ophthalmic Res. 2024;67(1):9-22. doi: 10.1159/000535430. Epub 2023 Dec 13. Ophthalmic Res. 2024. PMID: 38091967 Free article.
INTRODUCTION: The objective of this study was to investigate the clinical characteristics and genetic spectrum of adult-onset cone/cone-rod dystrophy (AOCD/AOCRD) in Korean individuals. METHODS: This is a single-center, retrospective cross-sectional st …
INTRODUCTION: The objective of this study was to investigate the clinical characteristics and genetic spectrum of adult-onset cone/ …
Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies.
Gliem M, Müller PL, Birtel J, Herrmann P, McGuinness MB, Holz FG, Charbel Issa P. Gliem M, et al. Ophthalmol Retina. 2020 Jul;4(7):737-749. doi: 10.1016/j.oret.2020.02.009. Epub 2020 Feb 27. Ophthalmol Retina. 2020. PMID: 32646556
PURPOSE: To investigate quantitatively lipofuscin-associated fundus autofluorescence in patients with macular and cone/cone-rod dystrophies (MD/CCRDs). DESIGN: Prospective, single-center, case-control study. ...For instance, qAF(8) values were normal i …
PURPOSE: To investigate quantitatively lipofuscin-associated fundus autofluorescence in patients with macular and cone/cone- …
Defining renal phenotype in Alström syndrome.
Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T. Baig S, et al. Nephrol Dial Transplant. 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. Nephrol Dial Transplant. 2020. PMID: 30307515
BACKGROUND: Alstrom syndrome (AS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features, including cone-rod retinal dystrophy, neuronal deafness, severe insulin resistance and major organ failure. ...Structural abnormalities such …
BACKGROUND: Alstrom syndrome (AS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features, including cone- …
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.
Williams KM, Georgiou M, Kalitzeos A, Chow I, Hysi PG, Robson AG, Lingham G, Chen FK, Mackey DA, Webster AR, Hammond CJ, Prokhoda P, Carroll J, Michaelides M, Mahroo OA. Williams KM, et al. Invest Ophthalmol Vis Sci. 2022 Jun 1;63(6):15. doi: 10.1167/iovs.63.6.15. Invest Ophthalmol Vis Sci. 2022. PMID: 35704304 Free PMC article.
Compared with the TwinsUK cohort (n = 322; median age, 65.1 years) and Raine Study cohort (n = 1335; median age, 19.9 years), AL distributions were wider in the IRD groups. Increased odds for longer ALs were observed for BCM, BED, RPGR, RPE65, OCA2, and TYR; increased odds …
Compared with the TwinsUK cohort (n = 322; median age, 65.1 years) and Raine Study cohort (n = 1335; median age, 19.9 years), AL distributio …
43 results