Search Results - "RAMSDEN, R. T"
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Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes
Published in Journal of Medical Genetics (01-04-2006)“…In recent years the use of radiation treatment for benign tumours has increased with the advent of stereotactic delivery and, in particular, single high dose…”
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2
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification
Published in Journal of medical genetics (01-07-2007)“…Background: Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation. However,…”
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3
Evaluation of clinical diagnostic criteria for neurofibromatosis 2
Published in Neurology (10-12-2002)“…Four sets of clinical diagnostic criteria for neurofibromatosis 2 (NF2) have been developed by groups of expert clinicians, but sensitivity has never been…”
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Further genotype - phenotype correlations in neurofibromatosis 2
Published in Clinical genetics (01-02-2010)“…Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG. Further genotype–phenotype correlations in neurofibromatosis 2…”
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Bilateral vestibular schwannomas in older patients: NF2 or chance?
Published in Journal of medical genetics (01-06-2015)“…Neurofibromatosis type 2 (NF2) is an autosomal dominant condition with high spontaneous mutation rate which predisposes to the development of multiple nerve…”
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The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2
Published in Journal of Medical Genetics (01-07-2005)“…Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other…”
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7
Use of a closed set questionnaire to measure primary and secondary effects of neurofibromatosis type 2
Published in Journal of laryngology and otology (01-07-2010)“…To identify the greatest difficulties reported by people affected by neurofibromatosis type 2, and to determine the relationship between the primary and…”
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Paediatric presentation of type 2 neurofibromatosis
Published in Archives of disease in childhood (01-12-1999)“…BACKGROUND Neurofibromatosis type 2 (NF2) is a highly penetrant autosomal dominant condition predisposing affected individuals to schwannomas and meningiomas…”
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Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring
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10
Vestibular schwannoma: role of conservative management
Published in Journal of laryngology and otology (01-03-2010)“…To assess the outcome of conservative management of vestibular schwannoma. Observational study. Tertiary referral centre. Four hundred and thirty-six patients…”
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11
Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?
Published in Clinical genetics (01-04-2007)“…Early onset of vestibular schwannoma (VS) is associated with the inherited condition neurofibromatosis type 2 (NF2). However, the majority of NF2 presents…”
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Complications following adult cochlear implantation: experience in Manchester
Published in Journal of laryngology and otology (01-06-2004)“…Cochlear implantation is regarded as a safe and effective treatment for the profoundly deaf. However, a proportion of patients suffer complications after…”
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13
Intracochlear Factors Contributing to Psychophysical Percepts Following Cochlear Implantation
Published in Acta oto-laryngologica (1998)“…The performance of cochlear implant patients may be related to intracochlear, histopathological factors. We have performed detailed post-mortem examinations of…”
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14
Cochlear implant outcomes and quality of life in the elderly: Manchester experience over 13 years
Published in Clinical otolaryngology (01-04-2006)“…To objectively evaluate the clinical and functional outcomes of cochlear implantation in an elderly population. Retrospective comparative study. Neurotology…”
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15
Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation
Published in Journal of medical genetics (01-11-2003)“…Background: Schwannomas are benign tumours of the nervous system that are usually sporadic but also occur in the inherited disorder neurofibromatosis type 2…”
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Somatic mosaicism : A common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis
Published in American journal of human genetics (01-09-1998)“…Blood samples from 125 families with classic type 2 neurofibromatosis with bilateral vestibular schwannomas were analyzed for mutations in the NF2 gene…”
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17
Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas
Published in Journal of medical genetics (01-05-2002)“…Neurofibromatosis type 2 (NF2) must be suspected in patients presenting with a unilateral vestibular schwannoma at a young age who are therefore at theoretical…”
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18
Imaging appearances of unusual conditions of the middle and inner ear
Published in British journal of radiology (01-06-2008)“…Requests for imaging of patients complaining of deafness and other symptoms related to the petrous bone are becoming increasingly common. Although much of this…”
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The Pakistan (Lahore) cochlear implant programme: issues relating to implantation in a developing country
Published in Journal of laryngology and otology (01-08-2007)“…The Pakistan cochlear implant programme was started in Lahore in August 2000. It was initially established with the technical support of the Manchester…”
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20
Metastatic carcinoma mimicking a facial nerve schwannoma: the role of computerized tomography in diagnosis
Published in Journal of laryngology and otology (01-12-2005)“…Secondary deposits in the temporal bone are uncommon but well recognized. Such tumours may involve the facial nerve by direct extension of the destructive…”
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