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    Results: 14

    1.

    Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

    Gilmour DF, Downey LM, Sheridan E, Long V, Bradbury J, Inglehearn CF, Toomes C.

    Ophthalmology. 2009 Aug;116(8):1522-4. Epub 2009 Jun 5.PMID: 19501404 [PubMed - indexed for MEDLINE]Related articles

    2.

    Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

    Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF.

    Am J Hum Genet. 2009 Feb;84(2):266-73. Epub 2009 Feb 5.PMID: 19200525 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Defining elements of success: a critical pathway of coalition development.

    Downey LM, Ireson CL, Slavova S, McKee G.

    Health Promot Pract. 2008 Apr;9(2):130-9.PMID: 18340088 [PubMed - indexed for MEDLINE]Related articles

    4.

    Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

    Downey LM, Bottomley HM, Sheridan E, Ahmed M, Gilmour DF, Inglehearn CF, Reddy A, Agrawal A, Bradbury J, Toomes C.

    Br J Ophthalmol. 2006 Sep;90(9):1163-7.PMID: 16929062 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Comment on 'cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy'.

    Bottomley HM, Downey LM, Inglehearn CF, Toomes C.

    Eur J Hum Genet. 2006 Jan;14(1):6-7; author reply 7-8. No abstract available. PMID: 16319824 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

    Toomes C, Downey LM, Bottomley HM, Mintz-Hittner HA, Inglehearn CF.

    Br J Ophthalmol. 2005 Feb;89(2):194-7.PMID: 15665352 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

    Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF.

    Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2083-90.PMID: 15223780 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

    Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF.

    Am J Hum Genet. 2004 Apr;74(4):721-30. Epub 2004 Mar 11.PMID: 15024691 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

    Toomes C, Downey LM, Bottomley HM, Scott S, Woodruff G, Trembath RC, Inglehearn CF.

    Mol Vis. 2004 Jan 15;10:37-42.PMID: 14737064 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken.

    Inglehearn CF, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I, Downey LM, Thaung C, Bridges LR, Paton IR, Smith J, Petersen-Jones S, Hocking PM, Burt DW.

    Mol Vis. 2003 Jul 1;9:295-300.PMID: 12847422 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa.

    Burt DW, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I, Downey LM, Thaung C, Bridges LR, Paton IR, Gentle M, Smith J, Hocking PM, Inglehearn CF.

    Mol Vis. 2003 Apr 30;9:164-70.PMID: 12724645 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.

    Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP, Mighell A, Fayle S, Wissinger B, Inglehearn CF.

    Eur J Hum Genet. 2002 Dec;10(12):865-9.PMID: 12461695 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

    Downey LM, Keen TJ, Roberts E, Mansfield DC, Bamashmus M, Inglehearn CF.

    Am J Hum Genet. 2001 Mar;68(3):778-81. Epub 2001 Jan 19.PMID: 11179025 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

    Bamashmus MA, Downey LM, Inglehearn CF, Gupta SR, Mansfield DC.

    Br J Ophthalmol. 2000 Apr;84(4):358-63.PMID: 10729291 [PubMed - indexed for MEDLINE]Related articlesFree article

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