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Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
- E. Stover, K. Borthwick, +29 authors F. Karet
- Biology, Medicine
- Journal of medical genetics
- 1 November 2002
Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired… Expand
Mechanisms of tinnitus.
- D. Baguley
- British medical bulletin
- 1 October 2002
The generation of tinnitus is a topic of much scientific enquiry. This chapter reviews possible mechanisms of tinnitus, whilst noting that the heterogeneity observed within the human population with… Expand
Pitch Comparisons between Electrical Stimulation of a Cochlear Implant and Acoustic Stimuli Presented to a Normal-hearing Contralateral Ear
- R. Carlyon, O. Macherey, +9 authors R. Dauman
- Computer Science, Medicine
- Journal of the Association for Research in…
- 5 June 2010
We study a rare group of patients having completely normal hearing in the unimplanted ear and investigate the locus of excitation along the auditory nerve (AN) array produced by electric and acoustic stimulation. Expand
Tinnitus and cochlear implantation
Tinnitus is a common experience, but there is very marked heterogeneity of aetiology, perception and the extent of distress among individuals who experience tinnitus. In view of this, a modern… Expand
Cochlear implants and tinnitus.
The clinical observation that multichannel intra-cochlear cochlear implants have a suppressive effect on tinnitus in profoundly deaf patients is supported by many published studies. Whilst there are… Expand
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
- E. Schoenmakers, M. Agostini, +45 authors K. Chatterjee
- Biology, Medicine
- The Journal of clinical investigation
- 1 December 2010
Selenium, a trace element that is fundamental to human health, is incorporated into some proteins as selenocysteine (Sec), generating a family of selenoproteins. Sec incorporation is mediated by a… Expand
Guidelines for the grading of tinnitus severity: the results of a working group commissioned by the British Association of Otolaryngologists, Head and Neck Surgeons, 1999.
- A. McCombe, D. Baguley, R. Coles, L. Mckenna, C. McKinney, P. Windle-Taylor
- Clinical otolaryngology and allied sciences
- 1 October 2001
Tinnitus is a common experience with up to one third of the adult population experiencing it at some time in their life. Less than 1% of the adult population have tinnitus of sufficient severity to… Expand
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes
AIMS To compare the clinical and molecular genetic features of two phenotypically distinct subgroups of families with type 1 Stickler syndrome. BACKGROUND Stickler syndrome (hereditary… Expand
The evidence base for the application of contralateral bone anchored hearing aids in acquired unilateral sensorineural hearing loss in adults
- D. Baguley, J. Bird, R. Humphriss, A. Prevost
- Clinical otolaryngology : official journal of ENT…
- 1 February 2006
• Acquired unilateral sensorineural hearing loss reduces the ability to localize sounds and to discriminate in background noise.
Tinnitus: A Multidisciplinary Approach
Tinnitus: A Multidisciplinary Approach provides a broad account of tinnitus and hyperacusis, detailing the latest research and developments in clinical management, incorporating insights from… Expand