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1987 1
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34 results

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Page 1
SNPs: impact on gene function and phenotype.
Shastry BS. Shastry BS. Methods Mol Biol. 2009;578:3-22. doi: 10.1007/978-1-60327-411-1_1. Methods Mol Biol. 2009. PMID: 19768584 Review.
To illustrate the effect of SNPs on gene function and phenotype, this minireview focuses on evidences revealing the impact of SNPs on the development and progression of three human eye disorders (Norrie disease, familial exudative vitreoretinopathy, and retinopathy …
To illustrate the effect of SNPs on gene function and phenotype, this minireview focuses on evidences revealing the impact of SNPs on the de …
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), CACNA1F (incomplete CSNB), OP …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), C …
The role of PLVAP in endothelial cells.
Denzer L, Muranyi W, Schroten H, Schwerk C. Denzer L, et al. Cell Tissue Res. 2023 May;392(2):393-412. doi: 10.1007/s00441-023-03741-1. Epub 2023 Feb 13. Cell Tissue Res. 2023. PMID: 36781482 Free PMC article. Review.
Several studies displayed an involvement of PLVAP in diseases as cancer, traumatic spinal cord injury, acute ischemic brain disease, transplant glomerulopathy, Norrie disease and diabetic retinopathy. Besides an upregulation of PLVAP expression within these diseases …
Several studies displayed an involvement of PLVAP in diseases as cancer, traumatic spinal cord injury, acute ischemic brain disease, transpl …
Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.
Le V, Abdelmessih G, Dailey WA, Pinnock C, Jobczyk V, Rashingkar R, Drenser KA, Mitton KP. Le V, et al. Cells. 2023 Nov 5;12(21):2579. doi: 10.3390/cells12212579. Cells. 2023. PMID: 37947657 Free PMC article. Review.
Familial Exudative Vitreoretinopathy (FEVR), Norrie disease, and persistent fetal vascular syndrome (PFVS) are extremely rare retinopathies that are clinically distinct but are unified by abnormal retinal endothelial cell function, and subsequent irregular retinal v …
Familial Exudative Vitreoretinopathy (FEVR), Norrie disease, and persistent fetal vascular syndrome (PFVS) are extremely rare …
Wnt Signaling in vascular eye diseases.
Wang Z, Liu CH, Huang S, Chen J. Wang Z, et al. Prog Retin Eye Res. 2019 May;70:110-133. doi: 10.1016/j.preteyeres.2018.11.008. Epub 2018 Dec 1. Prog Retin Eye Res. 2019. PMID: 30513356 Free PMC article. Review.
Loss-of-function mutations in Wnt signaling components cause rare genetic eye diseases in humans such as Norrie disease, and familial exudative vitreoretinopathy (FEVR) with defective ocular vasculature. ...
Loss-of-function mutations in Wnt signaling components cause rare genetic eye diseases in humans such as Norrie disease, and f …
Avascular Peripheral Retina in Infants.
Özdek Ş, Özdemir Zeydanlı E, Baumal C, Hoyek S, Patel N, Berrocal A, Lopez-Cañizares A, Al-Khersan H, Kusaka S, Mano F, Jalali S, Lepore D, Akar S. Özdek Ş, et al. Turk J Ophthalmol. 2023 Feb 24;53(1):44-57. doi: 10.4274/tjo.galenos.2022.76436. Turk J Ophthalmol. 2023. PMID: 36847634 Free PMC article. Review.
In this review, key features of each disease in the differential diagnosis, from retinopathy of prematurity, familial exudative vitreoretinopathy, Coats disease, incontinentia pigmenti, Norrie disease, and persistent fetal vasculature, to other rare hematologic cond …
In this review, key features of each disease in the differential diagnosis, from retinopathy of prematurity, familial exudative vitreoretino …
Thinking outside the box: cataplexy without narcolepsy.
Lima FCB, do Nascimento Junior EB, Teixeira SS, Coelho FM, Oliveira GDP. Lima FCB, et al. Sleep Med. 2019 Sep;61:118-121. doi: 10.1016/j.sleep.2019.03.006. Epub 2019 Mar 20. Sleep Med. 2019. PMID: 31427075 Review.
Other causes of cataplexy include Niemann-Pick type C Disease, Angelman Syndrome, Norrie Disease, Prader-Willi Syndrome. In addition, cataplexy can be a side effect of several drugs (eg, lamotrigine, clozapine, and gamma-hydroxybutyrate). ...
Other causes of cataplexy include Niemann-Pick type C Disease, Angelman Syndrome, Norrie Disease, Prader-Willi Syndrome. In ad …
[Norrie disease].
Okamoto N. Okamoto N. Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):524-6. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11032012 Review. Japanese. No abstract available.
The different functions of Norrin.
Braunger BM, Tamm ER. Braunger BM, et al. Adv Exp Med Biol. 2012;723:679-83. doi: 10.1007/978-1-4614-0631-0_86. Adv Exp Med Biol. 2012. PMID: 22183393 Review. No abstract available.
34 results