Advanced search
Publication Cover
Ophthalmic Paediatrics and Genetics Volume 8, 1987 - Issue 3
Journal homepage
11
Views
22
CrossRef citations to date
0
Altmetric
Original Article

Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion

T. Rosenberg National Eye Clinic for the Visually Impaired, Copenhagen, Denmark
,
E. Niebuhr Institute of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
,
H.-M. Yang Institute of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
,
A. Parving Audiological Department, Bispebjerg Hospital, Copenhagen, Denmark
&
M. Schwartz Section of Clinical Genetics, Department of Paediatrics and Department of Obstetrics and Gynaecology, Rigshospitalet, Copenhagen, Denmark
Pages 139-143 | Accepted 23 Jun 1987, Published online: 08 Jul 2009

Citations (22)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Read on this site (1)

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.
Read now

Articles from other publishers (21)

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.
Crossref
Eric T. Rush & G. Bradley Schaefer. (2010) Identification of an X-Linked Deletion Syndrome Through Comparative Genomic Hybridization Microarray. Seminars in Pediatric Neurology 17:1, pages 51-53.
Crossref
Michael S. Hildebrand, Michelle G. de Silva, Tiong Yang Tan, Elizabeth Rose, Carla Nishimura, Tanya Tolmachova, Joanne M. Hulett, Susan M. White, Jeremy Silver, Melanie Bahlo, Richard J.H. Smith & Hans‐Henrik M. Dahl. (2007) Molecular characterization of a novel X‐linked syndrome involving developmental delay and deafness. American Journal of Medical Genetics Part A 143A:21, pages 2564-2575.
Crossref
Marianne Haim. (2002) The epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmologica Scandinavica 80, pages 1-34.
Crossref
Lucia Y. Brown, M. Lita Alonso, Judy Yu, Dorothy Warburton & Stephen Brown. (2001) Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report. Prenatal Diagnosis 21:1, pages 27-30.
Crossref
Barbara R. Migeon & Camille Haisley-Royster. (1998) Familial Skewed X Inactivation and X-Linked Mutations: Unbalanced X Inactivation is a Powerful Means to Ascertain X-Linked Genes That Affect Cell Proliferation. The American Journal of Human Genetics 62:6, pages 1555-1557.
Crossref
Thomas Rosenberg, Marianne Haim, Anne‐Marie Hauch & Agnete Parving. (2008) The prevalence of Usher syndrome and other retinal dystrophy‐hearing impairment associations. Clinical Genetics 51:5, pages 314-321.
Crossref
JAJM van den Hurk, M Schwartz, H van Bokhoven, TJR van de Pol, L Bogerd, AJLG Pinckers, EM Bleeker-Wagemakers, IH Pawlowitzki, K Rüther, H-H Ropers & FPM Cremers. (1997) Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene. Human Mutation 9:2, pages 110-117.
Crossref
Marianne Schwartz & Thomas Rosenberg. (2009) Prenatal diagnosis of choroideremia. Acta Ophthalmologica Scandinavica 74:S219, pages 33-36.
Crossref
Geeta Kandpal, A. N. K. Jacob & Rajendra P. Kandpal. (1996) A cyclophilin gene-like sequence maps to human X-chromosome. Somatic Cell and Molecular Genetics 22:1, pages 67-73.
Crossref
ALAN C. BIRD. (1995) Retinal Photoreceptor Dystrophies LI. Edward Jackson Memorial Lecture. American Journal of Ophthalmology 119:5, pages 543-562.
Crossref
Barbara R. Migeon, Gail Stetten, Cathy Tuck-Muller, Joyce Axelman, Mihir Jani & Danton Dungy. (1995) Molecular characterization of a deleted X chromosome (Xq13.3-Xq21.31) exhibiting random X inactivation. Somatic Cell and Molecular Genetics 21:2, pages 113-120.
Crossref
Alan Wright & Barrie JayAlan Bird. 1994. Molecular Genetics of Inherited Eye Disorders. Molecular Genetics of Inherited Eye Disorders 53 88 .
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.
Crossref
Marianne Haim & Thomas Rosenberg. (2009) Retinitis pigmentosa and allied disorders in Denmark. Acta Ophthalmologica 71:5, pages 597-605.
Crossref
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.
Crossref
Marianne Haim. (2009) Prevalence of retinitis pigmentosa and allied disorders in Denmark. Acta Ophthalmologica 70:4, pages 417-426.
Crossref
Agnete Parving & Marianne Schwartz. (1991) Audiometric tests in gene carriers of Norrie's disease. International Journal of Pediatric Otorhinolaryngology 21:2, pages 103-111.
Crossref
S Wells, S Mould, D Robins, D Robinson & P Jacobs. (1991) Molecular and cytogenetic analysis of a familial microdeletion of Xq.. Journal of Medical Genetics 28:3, pages 163-166.
Crossref
Han G. Brunner, Cor A. van Bennekom, Eric M. M. Lambermon, T. Lian Oei, Cor W. R. J. Cremers, Bé Wieringa & Hans-Hilger Ropers. (1988) The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Human Genetics 80:4, pages 337-340.
Crossref
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.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.