Search filters

List of works by Dorothy Halliday

A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder

scientific article published on 4 February 2010

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

scientific article published on 22 July 2003

Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation

scientific article

Cardiovascular manifestations in men and women carrying a FBN1 mutation

scientific article published on 13 August 2010

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

scientific article

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

scientific article published on 29 February 2008

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

scientific article published on 28 January 2011

Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population

scientific article published on 13 March 2018

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

scientific article

English consensus protocol evaluating candidacy for auditory brainstem and cochlear implantation in neurofibromatosis type 2.

scientific article

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

scientific article published on 01 April 2002

First report of the efficacy of vestibular rehabilitation in improving function in patients with Neurofibromatosis type 2: an observational cohort study in a clinical setting.

scientific article published on 20 March 2018

Genetic Severity Score predicts clinical phenotype in NF2.

scientific article published on 28 August 2017

Genetic testing and screening of individuals at risk of NF2

scientific article published on 16 December 2011

Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

scientific article

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

scientific article published on 05 July 2019

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

scientific article published on 16 September 2019

Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2.

scientific article

Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient

scientific article published on 20 July 2017

Molecular analysis of eight mutations in FBN1.

scientific article

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

scientific article

Neurofibromatosis Type 2-Related Eye Disease Correlated With Genetic Severity Type

scientific article published on 01 March 2019

Neurofibromatosis type 2 and related disorders

scientific article published on 01 November 2019

Progression of hearing loss in neurofibromatosis type 2 according to genetic severity

scientific article published on 19 November 2018

Schwannomatosis: a genetic and epidemiological study

scholarly article by Gareth Evans et al published 16 June 2018 in Journal of Neurology, Neurosurgery and Psychiatry

Sporadic vestibular schwannoma: a molecular testing summary

scientific article published on 23 June 2020

The response of spinal cord ependymomas to bevacizumab in patients with neurofibromatosis Type 2.

scientific article

Toxicity profile of bevacizumab in the UK Neurofibromatosis type 2 cohort.

scientific article published on 28 October 2016

Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity

scientific article published on 29 April 2019

Paulina is supported by:

About Paulina

Help