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    Results: 1 to 20 of 129

    1.

    Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance.

    Vaclavik V, Chakarova C, Bhattacharya SS, Robson AG, Holder GE, Bird AC, Webster AR.

    Br J Ophthalmol. 2008 Feb;92(2):299-300. No abstract available. PMID: 18227217 [PubMed - indexed for MEDLINE]Related articles

    2.

    Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination.

    Hayashi T, Kitahara K.

    Eur J Ophthalmol. 2005 Sep-Oct;15(5):643-6.PMID: 16167297 [PubMed - indexed for MEDLINE]Related articles

    3.

    [Macular dystrophies]

    Souied E, Kaplan J, Coscas G, Soubrane G.

    J Fr Ophtalmol. 2003 Sep;26(7):743-62. Review. French. PMID: 13130265 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC).

    Oh KT, Vallar C.

    Am J Ophthalmol. 2006 May;141(5):940-3.PMID: 16678511 [PubMed - indexed for MEDLINE]Related articles

    5.

    Phenotypic variation in enhanced S-cone syndrome.

    Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE.

    Invest Ophthalmol Vis Sci. 2008 May;49(5):2082-93.PMID: 18436841 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls.

    Ali A, Feroze AH, Rizvi ZH, Rehman TU.

    Am J Ophthalmol. 2003 Oct;136(4):767-9.PMID: 14516833 [PubMed - indexed for MEDLINE]Related articles

    7.

    New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.

    Small KW, Silva-Garcia R, Udar N, Nguyen EV, Heckenlively JR.

    Arch Ophthalmol. 2008 Mar;126(3):397-403.PMID: 18332321 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    The enhanced S-cone syndrome in children.

    Khan AO, Aldahmesh M, Meyer B.

    Br J Ophthalmol. 2007 Mar;91(3):394-6. No abstract available. PMID: 17322467 [PubMed - indexed for MEDLINE]Related articles

    9.

    Dominant inherited tilted disc syndrome and lacquer cracks.

    Bottoni FG, Eggink CA, Cruysberg JR, Verbeek AM.

    Eye (Lond). 1990;4 ( Pt 3):504-9.PMID: 2209917 [PubMed - indexed for MEDLINE]Related articles

    10.

    A case of X-linked retinoschisis diagnosed in an infant.

    Mitamura Y, Miyanishi K, Shizukawa N, Tashimo A, Nakamura Y, Tagawa H, Ohtsuka K.

    Retina. 2003 Oct;23(5):731-2. No abstract available. PMID: 14574272 [PubMed - indexed for MEDLINE]Related articles

    11.

    A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.

    Crespí J, Buil JA, Bassaganyas F, Vela-Segarra JI, Díaz-Cascajosa J, Ayala-Ramírez R, Zenteno JC.

    Am J Ophthalmol. 2008 Aug;146(2):323-328. Epub 2008 Jun 13.PMID: 18554571 [PubMed - indexed for MEDLINE]Related articles

    12.

    Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis.

    Johnson BA, Aoyama N, Friedell NH, Ikeda S, Ikeda A.

    Genetics. 2008 Mar;178(3):1785-94. Epub 2008 Feb 3.PMID: 18245825 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.

    Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7.PMID: 18235024 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

    Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.

    Mol Vis. 2008 Aug 25;14:1549-58.PMID: 18728755 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    [Evaluation of fundus autofluorescence in hereditary retinal diseases using Heidelberg Retina Angiograph2]

    Côco M, Baba NT, Sallum JM.

    Arq Bras Oftalmol. 2007 Sep-Oct;70(5):739-45. Portuguese. PMID: 18157294 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Albipunctate retinopathy with cone dysfunction and no abnormality in the RDH5 or RLBP1 genes.

    Marmor MF, Haeseleer F, Palczewski K.

    Retina. 2003 Aug;23(4):543-6. No abstract available. PMID: 12972770 [PubMed - indexed for MEDLINE]Related articles

    17.

    [Polyarthritic manifestations revealing Stickler syndrome]

    Hakim H, Elloumi M, Ben Salem M, Karray S, Baklouti S.

    J Radiol. 2002 Dec;83(12 Pt 1):1856-8. French. PMID: 12511844 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Inherited retinal dystrophy and asymmetric axial length.

    Francis P, Robson AG, Holder G, Moore A, Francis P, Moore A, Kaushal S.

    Br J Ophthalmol. 2003 Apr;87(4):503-4. No abstract available. PMID: 12642322 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis.

    Jin ZB, Nao-I N.

    Jpn J Ophthalmol. 2007 Jan-Feb;51(1):71-3. Epub 2007 Feb 9. No abstract available. PMID: 17295148 [PubMed - indexed for MEDLINE]Related articles

    20.

    [Cone dystrophy]

    Macarie S, Sevan S, Kaucsar E, Demea S, Demea H.

    Oftalmologia. 2007;51(3):65-8. Romanian. PMID: 18064957 [PubMed - indexed for MEDLINE]Related articles

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