Search Results - "Zabaleta, Adriana"

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  1. 1

    Modification of Ocular Defects in Mouse Developmental Glaucoma Models by Tyrosinase by Libby, Richard T., Smith, Richard S., Savinova, Olga V., Zabaleta, Adriana, Martin, Janice E., Gonzalez, Frank J., Simon W. M. John

    “…Mutations in the cytochrome P450 family 1, subfamily B, polypeptide 1 (CYP1B1) gene are a common cause of human primary congenital glaucoma (PCG). Here we show…”
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    Journal Article
  2. 2

    Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice by John, Simon W M, Chang, Bo, Smith, Richard S, Hawes, Norman L, Anderson, Michael G, Zabaleta, Adriana, Savinova, Olga, Roderick, Thomas H, Heckenlively, John R, Davisson, Muriel T

    Published in Nature genetics (01-04-1999)
    “…Glaucomas are a major cause of blindness. Visual loss typically involves retinal ganglion cell death and optic nerve atrophy subsequent to a pathologic…”
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  3. 3

    The mouse anterior chamber angle and trabecular meshwork develop without cell death by Smith, R S, Zabaleta, A, Savinova, O V, John, S W

    Published in BMC developmental biology (14-02-2001)
    “…The iridocorneal angle forms in the mammalian eye from undifferentiated mesenchyme between the root of the iris and cornea. A major component is the trabecular…”
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  4. 4
  5. 5

    Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice by Anderson, M G, Smith, R S, Savinova, O V, Hawes, N L, Chang, B, Zabaleta, A, Wilpan, R, Heckenlively, J R, Davisson, M, John, S W

    Published in BMC genetics (01-01-2001)
    “…Glaucoma is a common disease but its molecular etiology is poorly understood. It involves retinal ganglion cell death and optic nerve damage that is often…”
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  6. 6

    Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice by John, Simon W.M, Anderson, Michael G, Smith, Richard S, Hawes, Norman L, Zabaleta, Adriana, Chang, Bo, Wiggs, Janey L

    Published in Nature genetics (01-01-2002)
    “…Pigmentary glaucoma is a significant cause of human blindness. Abnormally liberated iris pigment and cell debris enter the ocular drainage structures, leading…”
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  7. 7

    Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure by Chang, B, Smith, R S, Peters, M, Savinova, O V, Hawes, N L, Zabaleta, A, Nusinowitz, S, Martin, J E, Davisson, M L, Cepko, C L, Hogan, B L, John, S W

    Published in BMC genetics (06-11-2001)
    “…Glaucoma is a blinding disease usually associated with high intraocular pressure (IOP). In some families, abnormal anterior segment development contributes to…”
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  8. 8

    Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development by SMITH, R. S, ZABALETA, A, KUME, T, SAVINOVA, O. V, KIDSON, S. H, MARTIN, J. E, NISHIMURA, D. Y, ALWARD, W. L. M, HOGAN, B. L. M, JOHN, S. W. M

    Published in Human molecular genetics (12-04-2000)
    “…Anterior segment developmental disorders, including Axenfeld-Rieger anomaly (ARA), variably associate with harmfully elevated intraocular pressure (IOP), which…”
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