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    Results: 1 to 20 of 28

    1.

    Norrie disease: extraocular clinical manifestations in 56 patients.

    Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL.

    Am J Med Genet A. 2012 Aug;158A(8):1909-17. doi: 10.1002/ajmg.a.35469. Epub 2012 Jul 11.

    PMID:
    22786811
    [PubMed - indexed for MEDLINE]
    2.

    Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.

    Yang H, Li S, Xiao X, Guo X, Zhang Q.

    Curr Eye Res. 2012 Aug;37(8):726-9. doi: 10.3109/02713683.2012.675615. Epub 2012 May 7.

    PMID:
    22563645
    [PubMed - indexed for MEDLINE]
    3.

    Maternal xNorrin, a canonical Wnt signaling agonist and TGF-β antagonist, controls early neuroectoderm specification in Xenopus.

    Xu S, Cheng F, Liang J, Wu W, Zhang J.

    PLoS Biol. 2012;10(3):e1001286. doi: 10.1371/journal.pbio.1001286. Epub 2012 Mar 20.

    PMID:
    22448144
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells.

    Zuercher J, Fritzsche M, Feil S, Mohn L, Berger W.

    Hum Mol Genet. 2012 Jun 15;21(12):2619-30. doi: 10.1093/hmg/dds087. Epub 2012 Mar 6.

    PMID:
    22394677
    [PubMed - indexed for MEDLINE]
    5.

    Macular epiretinal membrane peeling treatment outcomes in young children.

    Ferrone PJ, Chaudhary KM.

    Retina. 2012 Mar;32(3):530-6. doi: 10.1097/IAE.0B013E318233AD26.

    PMID:
    22374156
    [PubMed - indexed for MEDLINE]
    6.

    Unilateral sporadic retinal dysplasia: results of histopathologic, immunohistochemical, chromosomal, genetic, and VEGF-A analyses.

    Jakobiec FA, Zakka FR, D'Amato R, Deangelis MM, Walton DS, Rao RC.

    J AAPOS. 2011 Dec;15(6):579-86. doi: 10.1016/j.jaapos.2011.08.009.

    PMID:
    22153404
    [PubMed - indexed for MEDLINE]
    7.

    A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.

    Chamney S, McLoone E, Willoughby CE.

    Eye (Lond). 2011 Dec;25(12):1658. doi: 10.1038/eye.2011.226. Epub 2011 Sep 30. No abstract available.

    PMID:
    21960066
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    Preterm treatment of Norrie disease.

    Drenser KA, Walsh MK, Capone A Jr, Trese MT, Luo CK.

    Ophthalmology. 2011 Aug;118(8):1694-5; author reply 1695,1695.e1. doi: 10.1016/j.ophtha.2011.03.001. No abstract available.

    PMID:
    21813101
    [PubMed - indexed for MEDLINE]
    9.

    Norrie disease vs familial exudative vitreoretinopathy.

    Walsh MK, Drenser KA, Capone A Jr, Trese MT.

    Arch Ophthalmol. 2011 Jun;129(6):819-20. doi: 10.1001/archophthalmol.2011.131. No abstract available.

    PMID:
    21670366
    [PubMed - indexed for MEDLINE]
    10.

    Molecular and clinical studies of X-linked deafness among Pakistani families.

    Waryah AM, Ahmed ZM, Bhinder MA, Choo DI, Sisk RA, Shahzad M, Khan SN, Friedman TB, Riazuddin S, Riazuddin S.

    J Hum Genet. 2011 Jul;56(7):534-40. doi: 10.1038/jhg.2011.55. Epub 2011 Jun 2. Erratum in: J Hum Genet. 2011 Oct;56(10):752. Binder, Munir A [corrected to Bhinder, Munir A].

    PMID:
    21633365
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.

    Liu D, Hu Z, Peng Y, Yu C, Liu Y, Mo X, Li X, Lu L, Xu X, Su W, Pan Q, Xia K.

    Mol Vis. 2010 Dec 8;16:2653-8.

    PMID:
    21179243
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity.

    Hiraoka M, Takahashi H, Orimo H, Hiraoka M, Ogata T, Azuma N.

    Mol Vis. 2010 Dec 5;16:2572-7.

    PMID:
    21151595
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    In utero diagnosis of Norrie disease and early laser preserves visual acuity.

    Kiernan DF, Blair MP, Shapiro MJ.

    Arch Ophthalmol. 2010 Oct;128(10):1382. doi: 10.1001/archophthalmol.2010.207. No abstract available.

    PMID:
    20938020
    [PubMed - indexed for MEDLINE]
    14.

    Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.

    Staropoli JF, Xin W, Sims KB.

    J Med Genet. 2010 Nov;47(11):786-90. doi: 10.1136/jmg.2010.079301. Epub 2010 Aug 2.

    PMID:
    20679667
    [PubMed - indexed for MEDLINE]
    15.

    Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.

    Pelcastre EL, Villanueva-Mendoza C, Zenteno JC.

    Clin Experiment Ophthalmol. 2010 May;38(4):367-74. doi: 10.1111/j.1442-9071.2010.02245.x. Epub 2010 Feb 22.

    PMID:
    20491809
    [PubMed - indexed for MEDLINE]
    16.

    Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.

    Whibley A, Urquhart J, Dore J, Willatt L, Parkin G, Gaunt L, Black G, Donnai D, Raymond FL.

    Eur J Hum Genet. 2010 Oct;18(10):1095-9. doi: 10.1038/ejhg.2010.41. Epub 2010 May 19.

    PMID:
    20485326
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Early vitrectomy effective for Norrie disease.

    Walsh MK, Drenser KA, Capone A Jr, Trese MT.

    Arch Ophthalmol. 2010 Apr;128(4):456-60. doi: 10.1001/archophthalmol.2009.403.

    PMID:
    20385941
    [PubMed - indexed for MEDLINE]
    18.

    Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

    Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, van Essen AJ, Sijmons RH, Tilanus MA, van Nouhuys CE, Ayuso C, Hoefsloot LH, Cremers FP.

    Hum Mutat. 2010 Jun;31(6):656-66. doi: 10.1002/humu.21250.

    PMID:
    20340138
    [PubMed - indexed for MEDLINE]
    19.

    Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.

    Lin P, Shankar SP, Duncan J, Slavotinek A, Stone EM, Rutar T.

    J AAPOS. 2010 Feb;14(1):93-6. doi: 10.1016/j.jaapos.2009.11.012.

    PMID:
    20227630
    [PubMed - indexed for MEDLINE]
    20.

    Early vitrectomy effective for bilateral combined anterior and posterior persistent fetal vasculature syndrome.

    Walsh MK, Drenser KA, Capone A Jr, Trese MT.

    Retina. 2010 Apr;30(4 Suppl):S2-8. doi: 10.1097/IAE.0b013e3181d34a9e.

    PMID:
    20224462
    [PubMed - indexed for MEDLINE]

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