Lista de obras -

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

Cardiovascular manifestations in men and women carrying a FBN1 mutation

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2011

Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2018

Genetic Severity Score predicts clinical phenotype in NF2.

artículo científico

Genetic testing and screening of individuals at risk of NF2

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Molecular analysis of eight mutations in FBN1.

artículo científico publicado en 1999

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

artículo científico publicado en 2014

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

artículo científico publicado en 2019

Neurofibromatosis type 2 and related disorders

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Lista de obras de

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

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

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

Cardiovascular manifestations in men and women carrying a FBN1 mutation

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

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

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

Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population

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

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

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

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.

Genetic Severity Score predicts clinical phenotype in NF2.

Genetic testing and screening of individuals at risk of NF2

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.

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

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

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

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

Molecular analysis of eight mutations in FBN1.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

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

Neurofibromatosis type 2 and related disorders

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

Schwannomatosis: a genetic and epidemiological study

Sporadic vestibular schwannoma: a molecular testing summary

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

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

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