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Year Number of Results
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212 results

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Quoted phrase not found in phrase index: "Aniridia 2"
Page 1
Approach to childhood glaucoma: A review.
Karaconji T, Zagora S, Grigg JR. Karaconji T, et al. Clin Exp Ophthalmol. 2022 Mar;50(2):232-246. doi: 10.1111/ceo.14039. Epub 2022 Jan 25. Clin Exp Ophthalmol. 2022. PMID: 35023613 Review.
These include primary congenital glaucoma (PCG) and juvenile open angle glaucoma (JOAG) as well as secondary causes of glaucoma associated with non-acquired ocular anomalies (Axenfeld-Rieger anomaly; Peters anomaly and Aniridia), glaucoma associated with systemic disease ( …
These include primary congenital glaucoma (PCG) and juvenile open angle glaucoma (JOAG) as well as secondary causes of glaucoma associated w …
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W, He XD, Yang ZT, Han DM, Sun Y, Chen YX, Han XT, Guo SC, Ma YT, Jin X, Yang HM, Gao Y, Wang ZS, Li JK, He W. Li W, et al. Invest Ophthalmol Vis Sci. 2023 Feb 1;64(2):5. doi: 10.1167/iovs.64.2.5. Invest Ophthalmol Vis Sci. 2023. PMID: 36729443 Free PMC article.
The genetic etiology of 6.76% (84/1243) of the trio was attributed to disease-causative DNMs, and the top 3 subgroups with the highest incidence of DNM were aniridia (n = 40%), Marfan syndrome/ectopia lentis (n = 38.78%), and retinoblastoma (n = 37.04%). ...
The genetic etiology of 6.76% (84/1243) of the trio was attributed to disease-causative DNMs, and the top 3 subgroups with the highest incid …
Systemic diseases and the cornea.
Shah R, Amador C, Tormanen K, Ghiam S, Saghizadeh M, Arumugaswami V, Kumar A, Kramerov AA, Ljubimov AV. Shah R, et al. Exp Eye Res. 2021 Mar;204:108455. doi: 10.1016/j.exer.2021.108455. Epub 2021 Jan 21. Exp Eye Res. 2021. PMID: 33485845 Free PMC article. Review.
These include endocrine disorders (diabetes, Graves' disease, Addison's disease, hyperparathyroidism), infections with viruses (SARS-CoV-2, herpes simplex, varicella zoster, HTLV-1, Epstein-Barr virus) and bacteria (tuberculosis, syphilis and Pseudomonas aeruginosa), autoi …
These include endocrine disorders (diabetes, Graves' disease, Addison's disease, hyperparathyroidism), infections with viruses (SARS-CoV- …
Congenital Aniridia and the Ocular Surface.
Ihnatko R, Eden U, Fagerholm P, Lagali N. Ihnatko R, et al. Ocul Surf. 2016 Apr;14(2):196-206. doi: 10.1016/j.jtos.2015.10.003. Epub 2015 Dec 29. Ocul Surf. 2016. PMID: 26738798 Review.
Aniridia is a congenital pan-ocular disorder caused by haplo-insufficiency of Pax6, a crucial gene for proper development of the eye. Aniridia affects a range of eye structures, including the cornea, iris, anterior chamber angle, lens, and fovea. ...
Aniridia is a congenital pan-ocular disorder caused by haplo-insufficiency of Pax6, a crucial gene for proper development of the eye. …
Clinical phenocopies of albinism.
Dumitrescu AV, Pfeifer WL, Drack AV. Dumitrescu AV, et al. J AAPOS. 2021 Aug;25(4):220.e1-220.e8. doi: 10.1016/j.jaapos.2021.03.015. Epub 2021 Jul 17. J AAPOS. 2021. PMID: 34280564
Other associated clinical features included hearing loss (3), seizures (1), abnormal chest x-ray (1) and easy bruising (2). During follow-up, additional clinical features and genetic testing proved that they have different clinical entities, namely, Knobloch syndrome, Jeun …
Other associated clinical features included hearing loss (3), seizures (1), abnormal chest x-ray (1) and easy bruising (2). During fo …
Rod and Cone Dark Adaptation in Congenital Aniridia and Its Association With Retinal Structure.
Pedersen HR, Gilson SJ, Landsend ECS, Utheim ØA, Utheim TP, Baraas RC. Pedersen HR, et al. Invest Ophthalmol Vis Sci. 2023 Apr 3;64(4):18. doi: 10.1167/iovs.64.4.18. Invest Ophthalmol Vis Sci. 2023. PMID: 37067366 Free PMC article.
PURPOSE: To characterize the association between dark-adapted rod and cone sensitivity and retinal structure in PAX6-related aniridia. METHODS: Dark-adaptation curves were measured after a 5-minute exposure to bright light with red (625 nm) and green (527 nm) 2 circ …
PURPOSE: To characterize the association between dark-adapted rod and cone sensitivity and retinal structure in PAX6-related aniridia …
The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A, Ludwig M. Bökenkamp A, et al. Pediatr Nephrol. 2016 Dec;31(12):2201-2212. doi: 10.1007/s00467-016-3343-3. Epub 2016 Mar 24. Pediatr Nephrol. 2016. PMID: 27011217 Free PMC article. Review.
OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified as Dent disease type 2 (Dent-2). Recent data indicate that there is a phenotypic continuum between Dent-2 disease and Lowe sy …
OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified as Den …
Aniridia. A review.
Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Nelson LB, et al. Surv Ophthalmol. 1984 May-Jun;28(6):621-42. doi: 10.1016/0039-6257(84)90184-x. Surv Ophthalmol. 1984. PMID: 6330922
It has been linked with the loci of chromosomes 1 and 2 and associated with the deletion of the p-13 band of chromosome 11. ...The recognition of a child with sporadic aniridia should alert physicians to the increased risk of development of Wilms' tumor....
It has been linked with the loci of chromosomes 1 and 2 and associated with the deletion of the p-13 band of chromosome 11. ...The re …
Aniridia.
Brauner SC, Walton DS, Chen TC. Brauner SC, et al. Int Ophthalmol Clin. 2008 Spring;48(2):79-85. doi: 10.1097/IIO.0b013e318169314b. Int Ophthalmol Clin. 2008. PMID: 18427263 Review. No abstract available.
The genetics of aniridia - simple things become complicated.
Wawrocka A, Krawczynski MR. Wawrocka A, et al. J Appl Genet. 2018 May;59(2):151-159. doi: 10.1007/s13353-017-0426-1. Epub 2018 Feb 19. J Appl Genet. 2018. PMID: 29460221 Free PMC article. Review.
Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the absence of iris tissue associated with additional ocular abnormalities. ...Furthermore, we present a molecular diagnostic strategy in the aniridia patients. Recent improve …
Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the absence of iris tissue associated with …
212 results