Risultati della ricerca - Ian M. MacDonald

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  1. 1
    Microperimetry as an Outcome Measure in Choroideremia Trials: Reproducibility and Beyond

    Microperimetry as an Outcome Measure in Choroideremia Trials: Reproducibility and Beyond di Ioannis Dimopoulos, Calvin Tseng, Ian M. MacDonald

    Pubblicazione 2016
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  2. 2
    RP1L1 and inherited photoreceptor disease: A review

    RP1L1 and inherited photoreceptor disease: A review di Nicole C. L. Noel, Ian M. MacDonald

    Pubblicazione 2020
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  3. 3
    Visual Field Progression in Retinitis Pigmentosa

    Visual Field Progression in Retinitis Pigmentosa di Manlong Xu, Yi Zhai, Ian M. MacDonald

    Pubblicazione 2020
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  4. 4
    Choroideremia: New Findings from Ocular Pathology and Review of Recent Literature

    Choroideremia: New Findings from Ocular Pathology and Review of Recent Literature di Ian M. MacDonald, Laurie Russell, Chi‐Chao Chan

    Pubblicazione 2009
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  5. 5
    Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy

    Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy di Paul R. Freund, Yuri V. Sergeev, Ian M. MacDonald

    Pubblicazione 2016
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  6. 6
    Silencing of the<i>CHM</i>Gene Alters Phagocytic and Secretory Pathways in the Retinal Pigment Epithelium

    Silencing of the<i>CHM</i>Gene Alters Phagocytic and Secretory Pathways in the Retinal Pigment Epithelium di N. Gordiyenko, Robert N. Fariss, C. Zhi, Ian M. MacDonald

    Pubblicazione 2010
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  7. 7
    Zebrafish Models of Photoreceptor Dysfunction and Degeneration

    Zebrafish Models of Photoreceptor Dysfunction and Degeneration di Nicole C. L. Noel, Ian M. MacDonald, W. Ted Allison

    Pubblicazione 2021
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  8. 8
    The functional effect of pathogenic mutations in Rab escort protein 1

    The functional effect of pathogenic mutations in Rab escort protein 1 di Yuri V. Sergeev, Nizar Smaoui, Ruifang Sui, David Stiles, N. Gordiyenko, N. Strunnikova, Ian M. MacDonald

    Pubblicazione 2009
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  9. 9
    Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis

    Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis di Yuri V. Sergeev, Rafael C. Caruso, Meira R. Meltzer, Nizar Smaoui, Ian M. MacDonald, Paul A. Sieving

    Pubblicazione 2010
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  10. 10
    The Need for Standardization of Antiretinal Antibody Detection and Measurement

    The Need for Standardization of Antiretinal Antibody Detection and Measurement di Farzin Forooghian, Ian M. MacDonald, John R. Heckenlively, Elise Héon, Lynn K. Gordon, John J. Hooks, Barbara Detrick, Robert B. Nussenblatt

    Pubblicazione 2008
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  11. 11
    Single-base substitutions in the<i>CHM</i>promoter as a cause of choroideremia

    Single-base substitutions in the<i>CHM</i>promoter as a cause of choroideremia di Alina Radziwon, Gavin Arno, Dianna K. Wheaton, Ellen M. McDonagh, Emma L. Baple, Kaylie Webb-Jones, David G. Birch, Andrew R. Webster, Ian M. MacDonald

    Pubblicazione 2017
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  12. 12
    High-Resolution Images of Retinal Structure in Patients with Choroideremia

    High-Resolution Images of Retinal Structure in Patients with Choroideremia di Reema Syed, S. Sundquist, Kavitha Ratnam, Shiri Zayit‐Soudry, Yuhua Zhang, Joanna Crawford, Ian M. MacDonald, Pooja Godara, Jungtae Rha, Joseph Carroll, Austin Roorda, Kimberly E. Stepien, Jacque L. Duncan

    Pubblicazione 2013
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  13. 13
    A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

    A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness di Sheikh Riazuddin, Amber Shahzadi, Christina Zeitz, Zubair M. Ahmed, Radha Ayyagari, Venkata Ramana Murthy Chavali, Virgilio G. Ponferrada, Isabelle Audo, Christelle Michiels, Marie-Elise Lancelot, Idrees A. Nasir, Ahmad Usman Zafar, Shaheen N. Khan, Tayyab Husnain, Xiaodong Jiao, Ian M. MacDonald, Sheikh Riazuddin, Paul A. Sieving, Nicholas Katsanis, J. Fielding Hejtmancik

    Pubblicazione 2010
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  14. 14
    A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

    A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa di Debra K. Breuer, Beverly M. Yashar, Elena V. Filippova, Suja Hiriyanna, Robert H. Lyons, Alan J. Mears, Bersabell Asaye, Ceren Acar, R. Vervoort, Alan F. Wright, Maria A. Musarella, Patricia G. Wheeler, Ian M. MacDonald, Alessandro Iannaccone, David G. Birch, Dennis R. Hoffman, Gerald A. Fishman, John R. Heckenlively, Samuel G. Jacobson, Paul A. Sieving, Anand Swaroop

    Pubblicazione 2002
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  15. 15
    A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

    A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies di Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa, Alejandro Estrada‐Cuzcano, Irma López, Anneke I. den Hollander, Marijke N. Zonneveld, Mohammad Othman, Naushin Waseem, Christina Chakarova, C. Maubaret, Anna Dı́az-Font, Ian M. MacDonald, Donna M. Muzny, David A. Wheeler, Margaret Morgan, Lora Lewis, Clare V. Logan, Perciliz L. Tan, M Beer, Chris F. Inglehearn, Richard A. Lewis, Samuel G. Jacobson, Carsten Bergmann, Philip L. Beales, Tania Attié‐Bitach, Colin A. Johnson, Edgar A. Otto, Shomi S. Bhattacharya, Friedhelm Hildebrandt, Richard A. Gibbs, Robert K. Koenekoop, Anand Swaroop, Nicholas Katsanis

    Pubblicazione 2009
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  16. 16
    The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

    The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms di Kym M. Boycott, Philippe M. Campeau, Heather Howley, Paul Pavlidis, Sanja Rogić, Christine Oriel, Jason N. Berman, Robert M. Hamilton, Geoffrey G. Hicks, Howard D. Lipshitz, Jean–Yves Masson, Eric A. Shoubridge, Anne Junker, Michel R. Leroux, Christopher R. McMaster, Jaques L. Michaud, Stuart E. Turvey, David A. Dyment, A. Micheil Innes, Clara D. van Karnebeek, Anna Lehman, Ronald D. Cohn, Ian M. MacDonald, Richard A. Rachubinski, Patrick Frosk, Anthony Vandersteen, Richard W. Wozniak, Izabella A. Pena, Xiao‐Yan Wen, Thierry Lacaze‐Masmonteil, Catharine H. Rankin, Philip Hieter

    Pubblicazione 2020
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  17. 17
    Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

    Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness di Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy, Shenghao Cao, Somayyeh Fahiminiya, Haitao Ren, Ian M. MacDonald, I. López, Vincent Sun, Vafa Keser, Ayesha Khan, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Kateřina Hodaňová, Lenka Piherová, Ladislav Kuchař, A Baxová, R Chen, Orlando Graziani Póvoas Barsottini, Angela Pyle, Helen Griffin, Miranda Splitt, Juliana Maria Ferraz Sallum, John Tolmie, Julian R. Sampson, Patrick F. Chinnery, Kym M. Boycott, Alex MacKenzie, Michael Brudno, Dennis E. Bulman, David A. Dyment, Eyal Banin, Dror Sharon, Sayantanee Dutta, Rudi Grebler, C. Helfrich-Foerster, José Luiz Pedroso, Doris Kretzschmar, Michel Cayouette, R. K. Koenekoop

    Pubblicazione 2015
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  18. 18
    Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

    Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics di Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTabishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Ľubica Ďuďáková, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B. Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M. Hettinga, Alexander Hoischen, Carel B. Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Bohdan Kousal, Tina M. Lamey, Ian M. MacDonald, Anna Matynia, Terri L. McLaren, Marcela Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Ołdak, Marc Pieterse, Osvaldo L. Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P. Szaflik, Jennifer A. Thompson, C. Thuillier, Anna M. Tracewska, Martine van Zweeden, Andrea L. Vincent, Xavier Zanlonghi, Petra Lišková, Heidi Stöhr, John N. De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    Pubblicazione 2019
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  19. 19
    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics di Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Ľubica Ďuďáková, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B. Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M. Hettinga, Alexander Hoischen, Carel B. Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Bohdan Kousal, Tina M. Lamey, Ian M. MacDonald, Anna Matynia, Terri L. McLaren, Marcela Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Ołdak, Marc Pieterse, Osvaldo L. Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P. Szaflik, Jennifer A. Thompson, C. Thuillier, Anna M. Tracewska, Martine van Zweeden, Andrea L. Vincent, Xavier Zanlonghi, Petra Lišková, Heidi Stöhr, John N. De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    Pubblicazione 2020
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