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Audiology Volume 17, 1978 - Issue 4
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Original Article

Electrophysiological study of norrie's disease: An X-Linked Recessive Trait with Hearing Loss

A. Parving Audiology Clinic, Gentofte University Hospital, Hellerup, and the Copenhagen Eye Clinic for the Mentally Retarded, Gentofte
,
C. Elberling Audiology Clinic, Gentofte University Hospital, Hellerup, and the Copenhagen Eye Clinic for the Mentally Retarded, Gentofte
&
M. Warburg Audiology Clinic, Gentofte University Hospital, Hellerup, and the Copenhagen Eye Clinic for the Mentally Retarded, Gentofte
Pages 293-298 | Published online: 07 Jul 2009

Citations (11)

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Read on this site (2)

Mette Warburg. (1996) If only you do it well Autobiography. Ophthalmic Genetics 17:4, pages 131-144.
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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 (9)

Valda Pauzuolyte, Aara Patel, James R Wawrzynski, Neil J Ingham, Yeh Chwan Leong, Rajvinder Karda, Maria Bitner‐Glindzicz, Wolfgang Berger, Simon N Waddington, Karen P Steel & Jane C Sowden. (2023) Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease. EMBO Molecular Medicine.
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Dale Bryant, Valda Pauzuolyte, Neil J. Ingham, Aara Patel, Waheeda Pagarkar, Lucy A. Anderson, Katie E. Smith, Dale A. Moulding, Yeh C. Leong, Daniyal J. Jafree, David A. Long, Amina Al-Yassin, Karen P. Steel, Daniel J. Jagger, Andrew Forge, Wolfgang Berger, Jane C. Sowden & Maria Bitner-Glindzicz. (2022) The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. JCI Insight 7:3.
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Chris Halpin, Grace Owen, Gustavo A. Gutiérrez-Espeleta, Katherine Sims & Heidi L. Rehm. (2016) Audiologic Features of Norrie Disease. Annals of Otology, Rhinology & Laryngology 114:7, pages 533-538.
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Joseph B. NadolJrJr, Roland D. Eavey, Ruth M. Liberfarb, Saumil N. Merchant, Roger Williams, David Climenhager & Daniel M. Albert. (1990) Histopathology of the ears, eyes, and brain in norrie's disease (oculoacousticocerebral degeneration). American Journal of Otolaryngology 11:2, pages 112-124.
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Danping Zhu, Stylianos E. Antonarakis, Barbara J. Schmeckpeper, Paul J. Diergaarde, Anne E. Greb & Irene H. Maumenee. (1989) Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease. American Journal of Medical Genetics 33:4, pages 485-488.
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Julielani T. Ngo, M. Anne Spence, Victoria Cortessis, Robert S. Sparkes & J. Bronwyn Bateman. (2008) Recombinational event between Norrie disease and DXS7 loci. Clinical Genetics 34:1, pages 43-47.
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C I Phillips, M Newton, J Duvall, S Holloway & A M Levy. (1986) Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.. British Journal of Ophthalmology 70:4, pages 305-313.
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Liesbeth M. Bleeker-Wagemakers, Ursula Friedrich, A. Gal, T. F. Wienker, Mette Warburg & H. -H. Ropers. (1985) Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome. Human Genetics 71:3, pages 211-214.
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A. Parving. (1983) Epidemiology of hearing loss and aetiological diagnosis of hearing impairment in childhood. International Journal of Pediatric Otorhinolaryngology 5, pages 151-165.
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