R. Ferner

发表

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations

D. Evans, A. Shenton, E. Majounie, 2011, Journal of Medical Genetics.

Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy.

D. Evans, J. Birch, S. Sharif, 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The effect of post-injection 18F-FDG PET scanning time on texture analysis of peripheral nerve sheath tumours in neurofibromatosis-1

V. Goh, M. Siddique, R. Ferner, 2017, EJNMMI Research.

Rowed DW, Houlden DA, Burkholder LM, Taylor AB. Comparison of Monitoring Techniques for Intraoperative Cerebral Ischemia. Can.J.Neurol Sci 31:347-356, 2004

J. Saint-Cyr, M. Watson, R. Prayson, 2004 .

Evaluation of 18fluorodeoxyglucose positron emission tomography (18FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1

R. Hughes, M. A. Smith, M. O'Doherty, 2000, Journal of neurology, neurosurgery, and psychiatry.

[18F]FDG PET/CT in the diagnosis of malignant peripheral nerve sheath tumours in neurofibromatosis type-1

M. O'Doherty, R. Ferner, V. Warbey, 2009, European Journal of Nuclear Medicine and Molecular Imaging.

Late-onset optic pathway tumors in children with neurofibromatosis 1

J. Charrow, D. Gutmann, S. Sharif, 2004, Neurology.

Diagnosis and Management of Malignant Tumours in NF1: Evolution from Atypical Neurofibroma to Malignant Peripheral Nerve Sheath Tumour and Treatment Options

R. Ferner, 2020 .

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis

C. Lázaro, G. Harris, M. Giovannini, 2018, American journal of medical genetics. Part A.

Aneurysms in neurofibromatosis type 2: Evidence for vasculopathy?

S. Thomson, R. Ferner, S. Connor, 2017, American journal of medical genetics. Part A.

Management of the patient and family with neurofibromatosis 2: a consensus conference statement

D. Evans, M. Gleeson, S. Huson, 2005, British journal of neurosurgery.

The neurofibromatoses

R. Ferner, 2010, Practical Neurology.

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

E. Schröck, C. Lázaro, G. Capellá, 2018, Familial Cancer.

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

D. Evans, A. Shaw, D. Halliday, 2014, Journal of Neurology.

The NFTI-QOL: A Disease-Specific Quality of Life Questionnaire for Neurofibromatosis 2

M. Gleeson, R. Ferner, G. Leschziner, 2012, Journal of Neurological Surgery—Part B.

The impact of PET scanning on management of paediatric oncology patients

M. A. Smith, M. O'Doherty, S. Barrington, 2004, European Journal of Nuclear Medicine and Molecular Imaging.

Imaging , Diagnosis , Prognosis Array-Based Comparative Genomic Hybridization Identifies CDK 4 and FOXM 1 Alterations as Independent Predictors of Survival in Malignant Peripheral Nerve Sheath Tumor

B. Scheithauer, M. Watson, J. Payton, 2011 .

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Michael Fisher, A. Stemmer-Rachamimov, B. Korf, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Neurofibromatosis type 1 (NF1): diagnosis and management.

D. Gutmann, R. Ferner, 2013, Handbook of clinical neurology.

The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors

R. Sciot, E. Legius, H. Brems, 2018, Neuro-oncology.

Cognitive function and academic performance in neurofibrornatosis 1

M. Denckla, K. North, V. Riccardi, 1997, Neurology.

Neurological Complications in NF1

U. Sheerin, R. Ferner, 2020, Multidisciplinary Approach to Neurofibromatosis Type 1.

Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire

R. Ferner, G. Leschziner, S. Afridi, 2017, Health and Quality of Life Outcomes.

Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update: Surveillance, Treatment Indications, and Biomarkers of Vision.

D. Gutmann, P. de Blank, R. Ferner, 2017, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

Karlyne M. Reilly, A. Lloyd, D. Evans, 2019, American journal of medical genetics. Part A.

Back to the future: Proceedings from the 2010 NF Conference

Karlyne M. Reilly, B. Korf, K. Reilly, 2011, American journal of medical genetics. Part A.

Autologous peripheral blood stem cell transplantation for chronic acquired demyelinating neuropathy

P. Fuhr, R. Hughes, A. Steck, 2009, Journal of the peripheral nervous system : JPNS.

ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis

E. Legius, R. Ferner, D. G. Evans, 2022, European Journal of Human Genetics.

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

D. Evans, R. Ferner, G. Leschziner, 2012, neurogenetics.

Neurofibroma and schwannoma

M. O'Doherty, R. Ferner, 2002, Current opinion in neurology.

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

D. Evans, D. Halliday, R. Jena, 2016, Neuro-oncology practice.

Toxicity profile of bevacizumab in the UK Neurofibromatosis type 2 cohort

D. Evans, D. Halliday, R. Jena, 2016, Journal of Neuro-Oncology.

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

D. Evans, M. Gleeson, S. Huson, 2006, Journal of Medical Genetics.

Current Concepts in Management of Vestibular Schwannomas in Neurofibromatosis Type 2

R. Ferner, J. Tysome, P. Axon, 2014, Current Otorhinolaryngology Reports.

Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience

U. Sheerin, R. Ferner, L. Childs, 2022, American journal of medical genetics. Part A.

NFB-09. ENROLLMENT AND CLINICAL CHARACTERISTICS OF NEWLY DIAGNOSED, NEUROFIBROMATOSIS TYPE 1 ASSOCIATED OPTIC PATHWAY GLIOMA (NF1-OPG): PRELIMINARY RESULTS FROM AN INTERNATIONAL MULTI-CENTER NATURAL HISTORY STUDY

F. Orge, G. Cutter, S. Stasheff, 2020, Neuro-Oncology.

Screening for symptomatic optic pathway glioma in children with neurofibromatosis type 1

D. Gutmann, R. Ferner, R. Listernick, 2011, Eye.

Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis

R. Hughes, M. Bobrow, R. Ferner, 2000, Journal of neurology, neurosurgery, and psychiatry.

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

E. Schröck, C. Lázaro, G. Capellá, 2020, European Journal of Human Genetics.

Neurofibromatosis-related tumors: emerging biology and therapies

R. Ferner, M. Karajannis, 2015, Current opinion in pediatrics.

Schwannomatosis: a genetic and epidemiological study

D. Evans, D. Halliday, M. Kellett, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues

M. Patton, S. Huson, M. Vikkula, 2015, American journal of medical genetics. Part A.

Current status and recommendations for biomarkers and biobanking in neurofibromatosis

A. Stemmer-Rachamimov, B. Korf, D. Evans, 2016, Neurology.

What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: New Frontiers

J. Kissil, S. Huson, F. McCormick, 2010, American journal of medical genetics. Part A.

Neurofi bromatosis 1 and neurofi bromatosis 2: a twenty fi rst century perspective

R. Ferner, R. Ferner, 2007 .

Cambridge Handbook of Psychology, Health and Medicine: Neurofibromatosis

R. Ferner, Rosalie E. Ferner, 2007 .

International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis.

D. Gutmann, R. Ferner, 2002, Cancer research.

Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective

R. Ferner, 2007, The Lancet Neurology.

Visual function and optic pathway glioma: a critical response.

D. Gutmann, R. Ferner, R. Avery, 2013, JAMA ophthalmology.

Optic pathway gliomas in neurofibromatosis‐1: Controversies and recommendations

D. Gutmann, R. Ferner, Grant T. Liu, 2007, Annals of neurology.

Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1

C. James, D. Louis, D. Gutmann, 2003, Neurology.

Neurofibromatosis type 1

Kimberly J. Johnson, B. Korf, D. Gutmann, 2017, Nature Reviews Disease Primers.

Array-Based Comparative Genomic Hybridization Identifies CDK4 and FOXM1 Alterations as Independent Predictors of Survival in Malignant Peripheral Nerve Sheath Tumor

B. Scheithauer, M. Watson, J. Payton, 2011, Clinical Cancer Research.

Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019

R. Ferner, D. Hargrave, J. Cadwgan, 2022, American journal of medical genetics. Part A.

Germline and somatic NF1 gene mutation spectrum in NF1‐associated malignant peripheral nerve sheath tumors (MPNSTs)

N. Thomas, G. Spurlock, A. Guha, 2008, Human mutation.

Gene Expression Profiling Reveals Unique Molecular Subtypes of Neurofibromatosis Type I‐associated and Sporadic Malignant Peripheral Nerve Sheath Tumors

M. Watson, D. Gutmann, R. Prayson, 2004, Brain pathology.

Intellectual impairment in neurofibromatosis 1

R. Ferner, J. Weinman, R. Hughes, 1996, Journal of the Neurological Sciences.

[18F]2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): a long-term clinical study.

M. O'Doherty, R. Ferner, W. Jan, 2008, Annals of oncology : official journal of the European Society for Medical Oncology.

Functional outcome measures for NF1-associated optic pathway glioma clinical trials

D. Gutmann, L. Bilaniuk, Jeffrey C. Allen, 2013, Neurology.

Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis.

Uri Tabori, Joel Charrow, Eric Bouffet, 2012, Neuro-oncology.

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Michael Fisher, A. Stemmer-Rachamimov, B. Korf, 2021, Genetics in Medicine.

A search for evidence of somatic mutations in theNF1 gene

M. Upadhyaya, R. Ferner, M. Ruggieri, 2000, Journal of medical genetics.

Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)

R. Hughes, M. Upadhyaya, R. Ferner, 2004, Journal of Medical Genetics.

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

E. Schröck, C. Lázaro, G. Capellá, 2020, European Journal of Human Genetics.

Sleep disturbance as part of the neurofibromatosis type 1 phenotype in adults

R. Ferner, G. Leschziner, J. Golding, 2013, American journal of medical genetics. Part A.

Neurofibromatoses in Clinical Practice

D. Evans, S. Huson, R. Ferner, 2011 .

Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force.

M. Denckla, K. North, V. Riccardi, 1997, Neurology.

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

C. Lázaro, A. Wagner, S. Henley, 2023, EClinicalMedicine.

Neurofibromatosis Type 1–Associated MPNST State of the Science: Outlining a Research Agenda for the Future

Karlyne M. Reilly, K. Reilly, D. Gutmann, 2017, Journal of the National Cancer Institute.

Characterisation of malignant peripheral nerve sheath tumours in neurofibromatosis-1 using heterogeneity analysis of 18F-FDG PET

V. Goh, G. Cook, M. Siddique, 2017, European Journal of Nuclear Medicine and Molecular Imaging.

Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future.

Karlyne M. Reilly, K. Reilly, D. Gutmann, 2017 .

Management and Treatment of “Complex Neurofibromatosis 1”

S. Huson, R. Ferner, 2012 .

Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1

D. Gutmann, R. Ferner, J. Leonard, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Multiple lower limb non-ossifying fibromas in siblings with neurofibromatosis.

S. Rankin, R. Ferner, D. Howlett, 1998, European journal of radiology.

High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization

J. Dumanski, G. Spurlock, A. Guha, 2008, Clinical Cancer Research.

High-Resolution DNACopyNumber ProfilingofMalignant Peripheral Nerve SheathTumors UsingTargetedMicroarray-Based Comparative Genomic Hybridization

J. Dumanski, G. Spurlock, A. Guha, 2008 .

Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2

P. Wen, A. Stemmer-Rachamimov, B. Korf, 2012, American journal of medical genetics. Part A.

ConsensusRecommendations for Current Treatments and Accelerating Clinical Trials for Patients With Neurofibromatosis Type 2

P. Wen, A. Stemmer-Rachamimov, B. Korf, 2011 .

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

Michael Fisher, B. Korf, J. Kissil, 2014, American journal of medical genetics. Part A.

Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma

Michael Fisher, R. Hoffman, J. Charrow, 2014, Annals of neurology.

Visual acuity in children with low grade gliomas of the visual pathway: implications for patient care and clinical research

D. Gutmann, R. Ferner, R. Avery, 2012, Journal of Neuro-Oncology.

An unusual case of hearing loss in a patient with neurofibromatosis type 1

R. Ferner, G. Leschziner, S. Wroe, 2012, Clinical neurology and neurosurgery (Dutch-Flemish ed. Print).

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

D. Evans, D. Halliday, M. Kellett, 2018, Genetics in Medicine.

Reply to Kratz et al.

E. Schröck, D. Evans, C. Lázaro, 2020, European Journal of Human Genetics.

Hearing and facial function outcomes for neurofibromatosis 2 clinical trials

D. Evans, T. Hadlock, R. Ferner, 2013, Neurology.

Proceedings of the International Cancer Imaging Society (ICIS) 16th Annual Teaching Course

Jeong Min Lee, W. Oyen, J. Fütterer, 2016, Cancer Imaging.

Reliability of functional outcome measures in adults with neurofibromatosis 1

R. Ferner, J. Golding, Mary Thomas, 2018, SAGE open medicine.

Further genotype – phenotype correlations in neurofibromatosis 2

A. Shenton, R. Ferner, R. Ramsden, 2009, Clinical genetics.

English Consensus Protocol Evaluating Candidacy for Auditory Brainstem and Cochlear Implantation in Neurofibromatosis Type 2

D. Halliday, M. Gleeson, R. Kerr, 2013, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Hippocampal involvement in identical twins with neurofibromatosis type 1

N. Tubridy, R. Ferner, F. Schon, 2001, Journal of neurology, neurosurgery, and psychiatry.

Be flexible with your fixed reservoir bag

R. Hughes, R. Ferner, P. Rao, 2015 .

Malignant triton tumor of the brachial plexus invading the left thoracic inlet: a rare differential diagnosis of pancoast tumor.

R. Ferner, P. Cane, J. Pilling, 2009, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

D. Evans, R. Ferner, G. Leschziner, 2012, neurogenetics.

Clinical presentation and prognostic indicators in 100 adults and children with neurofibromatosis 1 associated non-optic pathway brain gliomas

A. Siddiqui, R. Ferner, D. Hargrave, 2017, Journal of Neuro-Oncology.

The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)

S. Huson, G. Spurlock, E. Majounie, 2006, Human mutation.

Neurofibromatosis 1 and multiple sclerosis.

R. Hughes, R. Ferner, M. R. Johnson, 1995, Journal of neurology, neurosurgery, and psychiatry.

Prevalence and clinical presentation of headache in a National Neurofibromatosis 1 Service and impact on quality of life

R. Ferner, G. Leschziner, S. Afridi, 2015, American journal of medical genetics. Part A.

NF1 optic pathway glioma: analyzing risk factors for visual outcome and indications to treat

Jo-Fen Liu, D. Evans, J. Grill, 2020, Neuro-oncology.