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    Results: 1 to 20 of 107

    1.

    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

    2.

    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

    3.

    Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

    Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H.

    Hum Mutat. 2005 Aug;26(2):104-12.PMID: 15981244 [PubMed - indexed for MEDLINE]Related articles

    4.

    Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

    Boonstra FN, van Nouhuys CE, Schuil J, de Wijs IJ, van der Donk KP, Nikopoulos K, Mukhopadhyay A, Scheffer H, Tilanus MA, Cremers FP, Hoefsloot LH.

    Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4379-85. Epub 2009 Mar 25.PMID: 19324841 [PubMed - indexed for MEDLINE]Related articles

    5.

    Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

    Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF.

    Am J Hum Genet. 2004 Nov;75(5):878-84. Epub 2004 Sep 2.PMID: 15346351 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

    Robitaille JM, Wallace K, Zheng B, Beis MJ, Samuels M, Hoskin-Mott A, Guernsey DL.

    Ophthalmic Genet. 2009 Mar;30(1):23-30.PMID: 19172507 [PubMed - indexed for MEDLINE]Related articles

    7.

    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

    8.

    A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

    Cheung WM, Jin LY, Smith DK, Cheung PT, Kwan EY, Low L, Kung AW.

    Bone. 2006 Sep;39(3):470-6. Epub 2006 May 6.PMID: 16679074 [PubMed - indexed for MEDLINE]Related articles

    9.

    Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling.

    Balemans W, Devogelaer JP, Cleiren E, Piters E, Caussin E, Van Hul W.

    J Bone Miner Res. 2007 May;22(5):708-16.PMID: 17295608 [PubMed - indexed for MEDLINE]Related articles

    10.

    Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis.

    van Meurs JB, Trikalinos TA, Ralston SH, Balcells S, Brandi ML, Brixen K, Kiel DP, Langdahl BL, Lips P, Ljunggren O, Lorenc R, Obermayer-Pietsch B, Ohlsson C, Pettersson U, Reid DM, Rousseau F, Scollen S, Van Hul W, Agueda L, Akesson K, Benevolenskaya LI, Ferrari SL, Hallmans G, Hofman A, Husted LB, Kruk M, Kaptoge S, Karasik D, Karlsson MK, Lorentzon M, Masi L, McGuigan FE, Mellström D, Mosekilde L, Nogues X, Pols HA, Reeve J, Renner W, Rivadeneira F, van Schoor NM, Weber K, Ioannidis JP, Uitterlinden AG; GENOMOS Study.

    JAMA. 2008 Mar 19;299(11):1277-90.PMID: 18349089 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    A model for familial exudative vitreoretinopathy caused by LPR5 mutations.

    Xia CH, Liu H, Cheung D, Wang M, Cheng C, Du X, Chang B, Beutler B, Gong X.

    Hum Mol Genet. 2008 Jun 1;17(11):1605-12. Epub 2008 Feb 9.PMID: 18263894 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

    Kondo H, Qin M, Kusaka S, Tahira T, Hasebe H, Hayashi H, Uchio E, Hayashi K.

    Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1276-82.PMID: 17325173 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

    Kondo H, Hayashi H, Oshima K, Tahira T, Hayashi K.

    Br J Ophthalmol. 2003 Oct;87(10):1291-5.PMID: 14507768 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.

    Rickels MR, Zhang X, Mumm S, Whyte MP.

    J Bone Miner Res. 2005 May;20(5):878-85. Epub 2004 Dec 20.PMID: 15824861 [PubMed - indexed for MEDLINE]Related articles

    15.

    Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

    Hartikka H, Mäkitie O, Männikkö M, Doria AS, Daneman A, Cole WG, Ala-Kokko L, Sochett EB.

    J Bone Miner Res. 2005 May;20(5):783-9. Epub 2005 Jan 4.PMID: 15824851 [PubMed - indexed for MEDLINE]Related articles

    16.

    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

    17.

    Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity.

    Price SM, Periam N, Humphries A, Woodruff G, Trembath RC.

    Ophthalmic Genet. 1996 Jun;17(2):53-7.PMID: 8832721 [PubMed - indexed for MEDLINE]Related articles

    18.

    Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.

    Crabbe P, Balemans W, Willaert A, van Pottelbergh I, Cleiren E, Coucke PJ, Ai M, Goemaere S, van Hul W, de Paepe A, Kaufman JM.

    J Bone Miner Res. 2005 Nov;20(11):1951-9. Epub 2005 Jul 11.PMID: 16234968 [PubMed - indexed for MEDLINE]Related articles

    19.

    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

    20.

    Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

    Ai M, Heeger S, Bartels CF, Schelling DK; Osteoporosis-Pseudoglioma Collaborative Group.

    Am J Hum Genet. 2005 Nov;77(5):741-53. Epub 2005 Sep 27.PMID: 16252235 [PubMed - indexed for MEDLINE]Related articlesFree article

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