Search Results - "Heckenlively, JR"

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy by Buena-Atienza, Elena, Rüther, Klaus, Baumann, Britta, Bergholz, Richard, Birch, David, De Baere, Elfride, Dollfus, Helene, Greally, Marie T., Gustavsson, Peter, Hamel, Christian P., Heckenlively, John R., Leroy, Bart P., Plomp, Astrid S., Pott, Jan Willem R., Rose, Katherine, Rosenberg, Thomas, Stark, Zornitza, Verheij, Joke B. G. M., Weleber, Richard, Zobor, Ditta, Weisschuh, Nicole, Kohl, Susanne, Wissinger, Bernd

“…X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M-…”
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AZOOR Defined (Acute Zonal Occult Outer Retinopathy) by HECKENLIVELY, JR, WANG, A

“…Purpose To identify common diagnostic findings in 25 patients with AZOOR, first described by Gass in 1993 as a syndrome with rapid loss of one or more large…”
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Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice [published erratum appears in Invest Ophthalmol Vis Sci 1998 Aug;39(9):1641] by John, SW, Smith, RS, Savinova, OV, Hawes, NL, Chang, B, Turnbull, D, Davisson, M, Roderick, TH, Heckenlively, JR

“…To characterize ocular abnormalities associated with iris atrophy in DBA/2J mice and to determine whether mice of this strain develop elevated intraocular…”
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Long-term follow-up of a family with dominant X-linked retinitis pigmentosa by Wu, D M, Khanna, H, Atmaca-Sonmez, P, Sieving, P A, Branham, K, Othman, M, Swaroop, A, Daiger, S P, Heckenlively, J R

“…Purpose To document the progression of disease in male and female members of a previously described family with X-linked dominant retinitis pigmentosa (RP)…”
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Mouse models of ocular diseases by Chang, B, Hawes, N L, Hurd, R E, Wang, J, Howell, D, Davisson, M T, Roderick, T H, Nusinowitz, S, Heckenlively, J R

“…The Jackson Laboratory, having the world's largest collection of mouse mutant stocks and genetically diverse inbred strains, is an ideal place to discover…”
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Corn1: a mouse model for corneal surface disease and neovascularization by Smith, RS, Hawes, NL, Kuhlmann, SD, Heckenlively, JR, Chang, B, Roderick, TH, Sundberg, JP

“…To describe a new mouse model of corneal surface disease and neovascularization. Anatomic changes were demonstrated in corn1 and control A.By/SnJ mice from day…”
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Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis by Chang, B, Bronson, RT, Hawes, NL, Roderick, TH, Peng, C, Hageman, GS, Heckenlively, JR

“…To evaluate the retinal degeneration of the motor neuron degeneration (mnd) mouse, and to confirm its inheritance pattern and gene location. In screening the…”
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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Gen 2000;24:79–83 by Sohoki, M.M, Browne, S.J, Sullivan, L.S, Blackshaw, S, Cepko, C.L, Payne, A.M, Bhattacharya, S.S, Khaliq, S, Mehdi, S.Q, Birch, D.G, Harrison, W.R, Elder, F.F.B, Heckenlively, J.R, Daiger, S.P

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Nutritional requirement for taurine in patients receiving long-term parenteral nutrition by Geggel, H S, Ament, M E, Heckenlively, J R, Martin, D A, Kopple, J D

“…Animals fed diets lacking the amino acid taurine have low plasma and tissue levels of taurine and ultimately have retinal dysfunction. Since parenteral…”
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Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes by Runge, PE, Hawes, NL, Heckenlively, JR, Langley, SH, Roderick, TH

“…The clinical and histologic features are reported of an autosomal dominant mouse cataract that was first observed as a new mutation in a cross between BALB/cJ…”
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Visual function in patients undergoing long-term total parenteral nutrition by Vinton, NE, Heckenlively, JR, Laidlaw, SA, Martin, DA, Foxman, SR, Ament, ME, Kopple, JD

“…To evaluate the effects of long-term total parenteral nutrition (TPN) on eye function, 27 adults and 12 children in the UCLA Home TPN Clinic underwent…”
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