Search Results - Jana Zernant

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  1. 1
    Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography

    Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography by Janet R. Sparrow, Marcela Marsiglia, Rando Allikmets, Stephen H. Tsang, Winston Lee, Tobias Duncker, Jana Zernant

    Published 2015
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  2. 2
    Quantitative Fundus Autofluorescence Distinguishes ABCA4-Associated and Non–ABCA4-Associated Bull's-Eye Maculopathy

    Quantitative Fundus Autofluorescence Distinguishes ABCA4-Associated and Non–ABCA4-Associated Bull's-Eye Maculopathy by Tobias Duncker, Stephen H. Tsang, Winston Lee, Jana Zernant, Rando Allikmets, François C. Delori, Janet R. Sparrow

    Published 2014
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  3. 3
    Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene

    Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene by Neeme Tönisson, Jana Zernant, Ants Kurg, Hendrik Pavel, Georg Slavin, Hanno Roomere, Aune Meiel, Pierre Hainaut, Andres Metspalu

    Published 2002
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  4. 4
    G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy

    G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy by Wener Cella, Vivienne C. Greenstein, Jana Zernant-Rajang, Ted Smith, Gaetano R. Barile, Rando Allikmets, Stephen H. Tsang

    Published 2009
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  5. 5
    The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease

    The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease by Koji Tanaka, Winston Lee, Jana Zernant, Kaspar Schuerch, Lyam Ciccone, Stephen H. Tsang, Janet R. Sparrow, Rando Allikmets

    Published 2017
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  6. 6
    Correlations Among Near-Infrared and Short-Wavelength Autofluorescence and Spectral-Domain Optical Coherence Tomography in Recessive Stargardt Disease

    Correlations Among Near-Infrared and Short-Wavelength Autofluorescence and Spectral-Domain Optical Coherence Tomography in Recessive Stargardt Disease by Tobias Duncker, Marcela Marsiglia, Winston Lee, Jana Zernant, Stephen H. Tsang, Rando Allikmets, Vivienne C. Greenstein, Janet R. Sparrow

    Published 2014
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  7. 7
    Quantitative Fundus Autofluorescence and Optical Coherence Tomography in<i>PRPH2/RDS</i>- and<i>ABCA4</i>-Associated Disease Exhibiting Phenotypic Overlap

    Quantitative Fundus Autofluorescence and Optical Coherence Tomography in<i>PRPH2/RDS</i>- and<i>ABCA4</i>-Associated Disease Exhibiting Phenotypic Overlap by Tobias Duncker, Stephen H. Tsang, Russell L. Woods, Winston Lee, Jana Zernant, Rando Allikmets, François C. Delori, Janet R. Sparrow

    Published 2015
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  8. 8
    Near-Infrared Autofluorescence: Its Relationship to Short-Wavelength Autofluorescence and Optical Coherence Tomography in Recessive Stargardt Disease

    Near-Infrared Autofluorescence: Its Relationship to Short-Wavelength Autofluorescence and Optical Coherence Tomography in Recessive Stargardt Disease by Vivienne C. Greenstein, Ari D. Schuman, Winston Lee, Tobias Duncker, Jana Zernant, Rando Allikmets, Donald C. Hood, Janet R. Sparrow

    Published 2015
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  9. 9
    Functional Analysis of Retinal Flecks in Stargardt Disease

    Functional Analysis of Retinal Flecks in Stargardt Disease by Tommaso Verdina, Stephen H. Tsang, Vivienne C. Greenstein, Jana Zernant, Andrea Sodi, Luiz H. Lima, Stanley Chang, Rando Allikmets, Ugo Menchini

    Published 2012
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  10. 10
    Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration

    Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration by Jana Zernant, Winston Lee, Frederick T. Collison, Gerald A. Fishman, Yuri V. Sergeev, Kaspar Schuerch, Janet R. Sparrow, Stephen H. Tsang, Rando Allikmets

    Published 2017
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  11. 11
    Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypes

    Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypes by Jana Zernant, Winston Lee, Takayuki Nagasaki, Frederick T. Collison, Gerald A. Fishman, Mette Bertelsen, Thomas Rosenberg, Peter Gouras, Stephen H. Tsang, Rando Allikmets

    Published 2018
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  12. 12
    <i>Cis</i>-acting modifiers in the <i>ABCA4</i> locus contribute to the penetrance of the major disease-causing variant in Stargardt disease

    <i>Cis</i>-acting modifiers in the <i>ABCA4</i> locus contribute to the penetrance of the major disease-causing variant in Stargardt disease by Winston Lee, Jana Zernant, Takayuki Nagasaki, Laurie L. Molday, Pei-Yin Su, Gerald A. Fishman, Stephen H. Tsang, Robert S. Molday, Rando Allikmets

    Published 2021
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  13. 13
    <i>ABCA4</i>Gene Screening by Next-Generation Sequencing in a British Cohort

    <i>ABCA4</i>Gene Screening by Next-Generation Sequencing in a British Cohort by Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Andrew R. Webster, Anthony T. Moore, Rando Allikmets, Michel Michaelides

    Published 2013
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  14. 14
    The External Limiting Membrane in Early-Onset Stargardt Disease

    The External Limiting Membrane in Early-Onset Stargardt Disease by Winston Lee, Kalev Nõupuu, Maris Oll, Tobias Duncker, Tomas R. Burke, Jana Zernant, Srilaxmi Bearelly, Stephen H. Tsang, Janet R. Sparrow, Rando Allikmets

    Published 2014
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  15. 15
    Analysis of the<i>ABCA4</i>Gene by Next-Generation Sequencing

    Analysis of the<i>ABCA4</i>Gene by Next-Generation Sequencing by Jana Zernant, Carl Schubert, Kate M. Im, Tomas R. Burke, Carolyn M. Brown, Gerald A. Fishman, Stephen H. Tsang, Peter Gouras, Michael Dean, Rando Allikmets

    Published 2011
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  16. 16
    Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

    Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease by Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Anthony G. Robson, Graham E. Holder, Rando Allikmets, Michel Michaelides, Anthony T. Moore

    Published 2014
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  17. 17
    Genetic and Clinical Analysis of <i> <scp>ABCA</scp> 4 </i> ‐Associated Disease in African American Patients

    Genetic and Clinical Analysis of <i> <scp>ABCA</scp> 4 </i> ‐Associated Disease in African American Patients by Jana Zernant, Frederick T. Collison, Winston Lee, Gerald A. Fishman, Kalev Nõupuu, Bo Yuan, Carolyn Cai, James R. Lupski, Lawrence A. Yannuzzi, Stephen H. Tsang, Rando Allikmets

    Published 2014
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  18. 18
    Quantitative Fundus Autofluorescence in Recessive Stargardt Disease

    Quantitative Fundus Autofluorescence in Recessive Stargardt Disease by Tomas R. Burke, Tobias Duncker, Russell L. Woods, Jonathan P. Greenberg, Jana Zernant, Stephen H. Tsang, R. Theodore Smith, Rando Allikmets, Janet R. Sparrow, François C. Delori

    Published 2014
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  19. 19
    Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy

    Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy by Jiong Kong, S.-R. Kim, K. Binley, Illar Pata, Kentaro Doi, Jaana Männik, Jana Zernant-Rajang, O. Kan, Sharifah Iqball, Simon Naylor, Janet R. Sparrow, Peter Gouras, Rando Allikmets

    Published 2008
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  20. 20
    Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

    Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease by Sílvia Albert, Alejandro Garanto, Riccardo Sangermano, Mubeen Khan, Nathalie M. Bax, Carel B. Hoyng, Jana Zernant, Winston Lee, Rando Allikmets, Rob W.J. Collin, Frans P.M. Cremers

    Published 2018
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