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Original Article

Choroideremia in interstitial deletion of the X chromosome

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Pages 205-210 | Published online: 08 Jul 2009

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Read on this site (4)

Maria Brambati, Enrico Borrelli, Riccardo Sacconi, Francesco Bandello & Giuseppe Querques. (2019) Choroideremia: Update On Clinical Features And Emerging Treatments. Clinical Ophthalmology 13, pages 2225-2231.
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Ioannis S Dimopoulos, Stephanie Chan, Robert E MacLaren & Ian M MacDonald. (2015) Pathogenic mechanisms and the prospect of gene therapy for choroideremia. Expert Opinion on Orphan Drugs 3:7, pages 787-798.
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Razek Georges Coussa & Elias I. Traboulsi. (2012) Choroideremia: A review of general findings and pathogenesis. Ophthalmic Genetics 33:2, pages 57-65.
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T. Rosenberg, E. Niebuhr, H.-M. Yang, A. Parving & M. Schwartz. (1987) Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophthalmic Paediatrics and Genetics 8:3, pages 139-143.
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Articles from other publishers (21)

Andreas Mitsios, Adam M. Dubis & Mariya Moosajee. (2018) Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments. Therapeutic Advances in Ophthalmology 10, pages 251584141881749.
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Sandra Iossa, Valerio Costa, Virginia Corvino, Gennaro Auletta, Luigi Barruffo, Stefania Cappellani, Carlo Ceglia, Giovanni Cennamo, Adamo Pio D’Adamo, Alessandra D’Amico, Nilde Di Paolo, Raimondo Forte, Paolo Gasparini, Carla Laria, Barbara Lombardo, Rita Malesci, Andrea Vitale, Elio Marciano & Annamaria Franzè. (2015) Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss. Molecular Cytogenetics 8:1.
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Paul R Freund & Ian M MacDonald. 2005. Encyclopedia of Life Sciences. Encyclopedia of Life Sciences.
Saul Merin. 2005. Inherited Eye Diseases. Inherited Eye Diseases 467 491 .
Marianne Haim. (2002) The epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmologica Scandinavica 80, pages 1-34.
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M A Majid, B Horsborough & R H Gray. (1998) Unusual macular findings in a known choroideremia carrier. Eye 12:4, pages 740-741.
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Marianne Schwartz & Thomas Rosenberg. (2009) Prenatal diagnosis of choroideremia. Acta Ophthalmologica Scandinavica 74:S219, pages 33-36.
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Alan Wright & Barrie JayFrans M. Cremers & Hans-Hilger Ropers. 1994. Molecular Genetics of Inherited Eye Disorders. Molecular Genetics of Inherited Eye Disorders 303 319 .
Thomas Rosenberg & Marianne Schwartz. (2009) Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients. Acta Ophthalmologica 72:6, pages 678-682.
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Marianne Haim & Thomas Rosenberg. (2009) Retinitis pigmentosa and allied disorders in Denmark. Acta Ophthalmologica 71:5, pages 597-605.
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Marianne Schwartz, Thomas Rosenberg, José A. J. M. van den Hurk, Dorien J. R. van den Pol & Frans P. M. Cremers. (1993) Identification of mutations in Danish choroideremia families. Human Mutation 2:1, pages 43-47.
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W. Reardon, S. Roberts, P. D. Phelps, N. S. Thomas, L. Beck, R. Issac & H. E. Hughes. (2005) Phenotypic evidence for a common pathogenesis in X‐linked deafness pedigrees and in Xq13–q21 deletion related deafness. American Journal of Medical Genetics 44:4, pages 513-517.
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Marianne Haim. (2009) Prevalence of retinitis pigmentosa and allied disorders in Denmark. Acta Ophthalmologica 70:4, pages 417-426.
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A F Wright, R L Nussbaum, S S Bhattacharya, M Jay, J G Lesko, H J Evans & B Jay. (1990) Linkage studies and deletion screening in choroideremia.. Journal of Medical Genetics 27:8, pages 496-498.
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H.‐M. Yang, T. Lund, E. Niebuhr, S. Nørby, M. Schwartz & L. Shen. (2008) Exclusion mapping of 12 X‐linked disease loci and 10 DNA probes from the long arm of the X‐chromosome. Clinical Genetics 38:2, pages 94-104.
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Diane E. Merry, John G. Lesko, Victoria Siu, Wayne F. Funtoff, Francis Collins, Richard A. Lewis & Robert L. Nussbaum. (1990) DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. Genomics 6:4, pages 609-615.
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Eeva-Marja Sankila, Thomas Lehner, Aldur W. Eriksson, Henrik Forsius, Jussi Kärnä, David Page, Jürg Ott & Albert de la Chapelle. (1989) Haplotype and multipoint linkage analysis in Finnish choroideremia families. Human Genetics 84:1, pages 66-70.
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Frans P.M. Cremers, Dorien J.R. van de Pol, Paul J. Diergaarde, B? Wieringa, Robert L. Nussbaum, Marianne Schwartz & Hans-Hilger Ropers. (1989) Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 4:1, pages 41-46.
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M. Schwartz, H. -M. Yang, E. Niebuhr, T. Rosenberg & D. C. Page. (1988) Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. Human Genetics 78:2, pages 156-160.
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F.P.M. Cremers, F. Brunsmann, T.J.R. Pol, I.H. Pawlowitzki, K. Paulsen, B. Wieringa & H.H. Ropers. (2008) Deletion of the DXS165 locus in patients with classical Choroideremia. Clinical Genetics 32:6, pages 421-423.
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David N Cooper, Marcelle Jay, Shomi Bhattacharya & Barrie Jay. (1987) Molecular genetic approaches to the analysis of human ophthalmic disease. Eye 1:6, pages 699-721.
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