Literature DB >> 567472

Electrophysiological study of Norrie's disease. An X-linked recessive trait with hearing loss.

A Parving, C Elberling, M Warburg.   

Abstract

3 patients with Norrie's diseas were examined with electrocochleography and brain-stem-evoked responses. The examination revealed a hearing loss of pure cochlear origin with no involvement of the brain stem. The disease is inherited as an X-linked recessive trait only affecting males with unaffected female carriers. The results are thus in agreement with previous investigations of the topical lesion in genetic hearing loss.

Entities:  

Mesh：

Year:  1978        PMID： 567472     DOI： 10.3109/00206097809101299

Source DB:  PubMed          Journal:  Audiology        ISSN： 0020-6091


  5 in total

1.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

2.  Vascular defects and sensorineural deafness in a mouse model of Norrie disease.

Authors:  Heidi L Rehm; Duan-Sun Zhang; M Christian Brown; Barbara Burgess; Chris Halpin; Wolfgang Berger; Cynthia C Morton; David P Corey; Zheng-Yi Chen
Journal:  J Neurosci       Date:  2002-06-01       Impact factor: 6.167

3.  Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

Authors:  L M Bleeker-Wagemakers; U Friedrich; A Gal; T F Wienker; M Warburg; H H Ropers
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  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.

Authors:  C I Phillips; M Newton; J Duvall; S Holloway; A M Levy
Journal:  Br J Ophthalmol       Date:  1986-04       Impact factor: 4.638

5.  The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.

Authors:  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
Journal:  JCI Insight       Date:  2022-02-08
  5 in total

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