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There are 36365 results for: content related to: Retinal astrocytic hamartoma and Stargardt's disease: unusual association in a patient with ABCR mutation without phacomatosis

  1. You have free access to this content
    Use of multifocal ERG and OCT for diagnosing Stargardt's disease

    Clinical and Experimental Optometry

    Volume 94, Issue 3, May 2011, Pages: 309–313, Lori A Vollmer, Diana L Shechtman, Albert D Woods and Joseph J Pizzimenti

    Article first published online : 6 OCT 2010, DOI: 10.1111/j.1444-0938.2010.00527.x

  2. You have free access to this content
    Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa

    Human Mutation

    Volume 23, Issue 5, May 2004, Page: 523, Rıza Köksal Özgü, Hakan Durukan, Ayşe Turan, Cihan Öner, Ay Öğüş and Debora B. Farber

    Article first published online : 31 MAR 2004, DOI: 10.1002/humu.9236

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    The luminance fall in anomaloscope examination: clinical examples

    Acta Ophthalmologica Scandinavica

    Volume 78, Issue 4, August 2000, Pages: 465–467, Alfred Pinckers and André Uvijls

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1600-0420.2000.078004465.x

  4. The Expanding Roles of ABCA4 and CRB1 in Inherited Blindness

    Retinal Dystrophies: Functional Genomics to Gene Therapy: Novartis Foundation Symposium 255

    F. P. M. Cremers, A. Maugeri, A. I. den Hollander, C. B. Hoyng, Pages: 68–84, 2008

    Published Online : 7 OCT 2008, DOI: 10.1002/0470092645.ch6

  5. Genetic testing for inherited ocular disease: delivering on the promise at last?

    Clinical & Experimental Ophthalmology

    Volume 42, Issue 1, January/February 2014, Pages: 65–77, Rachel L Gillespie, Georgina Hall and Graeme C Black

    Article first published online : 21 AUG 2013, DOI: 10.1111/ceo.12159

  6. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

    Human Mutation

    Volume 22, Issue 5, November 2003, Pages: 395–403, K. Jaakson, J. Zernant, M. Külm, A. Hutchinson, N. Tonisson, D. Glavač, M. Ravnik-Glavač, M. Hawlina, M.R. Meltzer, R.C. Caruso, F. Testa, A. Maugeri, C.B. Hoyng, P. Gouras, F. Simonelli, R.A. Lewis, J.R. Lupski, F.P.M. Cremers and R. Allikmets

    Article first published online : 24 SEP 2003, DOI: 10.1002/humu.10263

  7. Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies

    Human Mutation

    Volume 17, Issue 6, June 2001, Pages: 504–510, Eva Paloma, Amalia Martínez-Mir, Lluïsa Vilageliu, Roser Gonzàlez-Duarte and Susana Balcells

    Article first published online : 25 MAY 2001, DOI: 10.1002/humu.1133

  8. Stargardt's disease or fundus flavimaculatus?

    Clinical and Experimental Optometry

    Volume 79, Issue 2, March 1996, Pages: 74–75, H Barry Collin

    Article first published online : 23 APR 2009, DOI: 10.1111/j.1444-0938.1996.tb04978.x

  9. Psychogenic amblyopia and Stargardt's disease the differential diagnosis

    Clinical and Experimental Optometry

    Volume 76, Issue 2, March 1993, Pages: 61–66, Adrian S. Bruce, Peter G. Swann and Aphrodite Livanes

    Article first published online : 23 APR 2009, DOI: 10.1111/j.1444-0938.1993.tb05091.x

  10. Isotretinoin Treatment Inhibits Lipofuscin Accumulation in a Mouse Model of Recessive Stargardt's Macular Degeneration

    Retinal Dystrophies: Functional Genomics to Gene Therapy: Novartis Foundation Symposium 255

    Roxana A. Radu, Nathan L. Mata, Steven Nusinowitz, Xinran Liu, Gabriel H. Travis, Pages: 51–67, 2008

    Published Online : 7 OCT 2008, DOI: 10.1002/0470092645.ch5

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    Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies

    Human Mutation

    Volume 20, Issue 6, December 2002, Page: 476, Eva Paloma, Rosa Coco, Amalia Martínez-Mir, Lluïsa Vilageliu, Susana Balcells and Roser Gonzàlez-Duarte

    Article first published online : 19 NOV 2002, DOI: 10.1002/humu.9086

  12. Coastal-inland interactions in Burmese history: a long-term perspective

    Asian-Pacific Economic Literature

    Volume 27, Issue 1, May 2013, Pages: 1–26, Ronald Findlay

    Article first published online : 14 MAY 2013, DOI: 10.1111/apel.12000

  13. An ABCA4 genomic deletion in patients with Stargardt disease

    Human Mutation

    Volume 21, Issue 6, June 2003, Pages: 636–644, Alexander N. Yatsenko, Noah F. Shroyer, Richard A. Lewis and James R. Lupski

    Article first published online : 25 APR 2003, DOI: 10.1002/humu.10219

  14. An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention

    Clinical & Experimental Ophthalmology

    Volume 37, Issue 7, September/October 2009, Pages: 703–711, Monika Pradhan, Ian Hayes and Andrea Vincent

    Article first published online : 5 AUG 2009, DOI: 10.1111/j.1442-9071.2009.02129.x


    Acta Ophthalmologica

    Volume 57, Issue 2, April 1979, Pages: 172–182, NILS ANMARKRUD

    Article first published online : 27 MAY 2009, DOI: 10.1111/j.1755-3768.1979.tb00482.x

  16. Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding

    Clinical & Experimental Ophthalmology

    Volume 43, Issue 5, July 2015, Pages: 437–442, Hee Gyung Kang, Yo Han Ahn, Jeong Hun Kim, Il-Soo Ha, Young Suk Yu, Yong-Hoon Park and Hae Il Cheong

    Article first published online : 14 JAN 2015, DOI: 10.1111/ceo.12469

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    The lipid translocase, ABCA4: seeing is believing

    FEBS Journal

    Volume 278, Issue 18, September 2011, Pages: 3204–3214, Naomi Laura Pollock and Richard Callaghan

    Article first published online : 13 JUN 2011, DOI: 10.1111/j.1742-4658.2011.08169.x

  18. Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank

    Clinical & Experimental Ophthalmology

    Volume 41, Issue 5, July 2013, Pages: 476–483, John N De Roach, Terri L McLaren, Rachel L Paterson, Emily C O'Brien, Ling Hoffmann, David A Mackey, Alex W Hewitt and Tina M Lamey

    Article first published online : 10 DEC 2012, DOI: 10.1111/ceo.12020

  19. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

    Clinical & Experimental Ophthalmology

    Volume 35, Issue 5, July 2007, Pages: 473–485, Robert K Koenekoop, Irma Lopez, Anneke I Den Hollander, Rando Allikmets and Frans PM Cremers

    Article first published online : 21 JUL 2007, DOI: 10.1111/j.1442-9071.2007.01534.x

  20. Multifactorial age-related macular degeneration allelic with autosomal recessive Stargardt macular dystrophy

    Clinical Genetics

    Volume 53, Issue 2, February 1998, Pages: 89–90,

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1998.tb02651.x