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Audiology Volume 16, 1977 - Issue 2
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Original Article

Audiological Findings in Norrie's Disease

Agnete Parving Audiological Clinic, Gentofte University Hospital, Hellerup and the Copenhagen Eye Clinic for the Mentally Retarded, Gentofte; Audiological Clinic, Gentofte University Hospital, Niels Andersens Vej 65, DK-2900, Hellerup, Denmark
&
Mette Warburg Audiological Clinic, Gentofte University Hospital, Hellerup and the Copenhagen Eye Clinic for the Mentally Retarded, Gentofte
Pages 124-131 | Published online: 08 Jun 2010

Citations (19)

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Read on this site (6)

B. Schroeder, L. Hesse, W. Brück & A. Gal. (1997) Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene. Ophthalmic Genetics 18:2, pages 71-77.
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M. Caballero, A. Veske, J. J. Rodriguez, N. Lugo, B. Schroeder, L. Hesse & A. Gal. (1996) Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype. Ophthalmic Genetics 17:4, pages 187-191.
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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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A. Parving, C. Elberling & M. Warburg. (1978) Electrophysiological study of norrie's disease: An X-Linked Recessive Trait with Hearing Loss. Audiology 17:4, pages 293-298.
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Agnete Parving. (1978) Reliability Of Békésy Threshold Tracing In Identification Of Carriers Of Genes For An X-Linked Disease With Deafness. Acta Oto-Laryngologica 85:1-6, pages 40-44.
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Articles from other publishers (13)

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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Sunita Mohan, Uthra Satagopan, Soumittra Nagasamy, Sundaram Natarajan & Govindasamy Kumaramanickavel. 2019. Advances in Vision Research, Volume II. Advances in Vision Research, Volume II 147 168 .
Dhandayuthapani Sudha, Aparna Ganapathy, Puja Mohan, Ashraf U. Mannan, Shuba Krishna, Srividya Neriyanuri, Meenakshi Swaminathan, Pukhraj Rishi, Subbulakshmi Chidambaram & Jayamuruga Pandian Arunachalam. (2017) Clinical and genetic analysis of Indian patients with NDP-related retinopathies. International Ophthalmology 38:3, pages 1251-1260.
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Thomas Parzefall, Trevor Lucas, Markus Ritter, Martin Ludwig, Reinhard Ramsebner, Alexandra Frohne, Christian Schöfer, Markus Hengstschläger & Klemens Frei. (2014) A Novel Missense <b><i>NDP</i></b> Mutation [p.(Cys93Arg)] with a Manifesting Carrier in an Austrian Family with Norrie Disease. Audiology and Neurotology 19:3, pages 203-209.
Crossref
Arlene V. Drack. 2006. Handbook of Pediatric Retinal Disease. Handbook of Pediatric Retinal Disease 411 455 .
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.
Crossref
Judith T. Blumsack. (2003) Audiological Assessment, Rehabilitation, and Spatial Hearing Considerations Associated With Visual Impairment in Adults. American Journal of Audiology 12:2, pages 76-83.
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Arlene V. Drack. 2003. Pediatric Ophthalmology and Strabismus. Pediatric Ophthalmology and Strabismus 654 671 .
Deborah E. Schuback, Zheng Yi Chen, Ian W. Craig, Xandra O. Breakefield & Katherine B. Sims. (1995) Mutations in the Norrie disease gene. Human Mutation 5:4, pages 285-292.
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G Wolff, A Mayerova, T F Wienker, P Atalianis, P Ioannou & M Warburg. (1992) Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).. Journal of Medical Genetics 29:11, pages 816-819.
Crossref
P.J. Diergaarde, B. Wieringa, E.M. Bleeker-Wagemakers, K.B. Sims, X.O. Breakefield & H.-H. Ropers. (1989) Physical fine-mapping of a deletion spanning the Norrie gene. Human Genetics 84:1, pages 22-26.
Crossref
H M Goodyear, P M Sonksen & H McConachie. (1989) Norrie's disease: a prospective study of development.. Archives of Disease in Childhood 64:11, pages 1587-1592.
Crossref
E. Lehnhardt. 1984. Verhandlungsbericht 1984 der Deutschen Gesellschaft für Hals- Nasen- Ohren-Heilkunde, Kopf- und Hals-Chirurgie. Verhandlungsbericht 1984 der Deutschen Gesellschaft für Hals- Nasen- Ohren-Heilkunde, Kopf- und Hals-Chirurgie 58 218 .

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