Lista de obras - Ferner R - Dominio Público Uruguay

'Phantom' typical absences, absence status and experiential phenomena

scientific article published on 01 September 1993

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

artículo científico publicado en 2011

A qualitative study of the impact of living with neurofibromatosis type 2.

artículo científico publicado en 2011

A search for evidence of somatic mutations in the NF1 gene.

artículo científico publicado en 2000

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Autologous peripheral blood stem cell transplantation for chronic acquired demyelinating neuropathy

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1.

artículo científico publicado en 2007

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

article

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

artículo científico publicado en 2013

Focal inhibitory seizures: a cause of recurrent transient weakness

artículo científico publicado en 2015

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

scientific article published on 22 March 2012

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

artículo científico publicado en 2013

Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

article

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

artículo científico publicado en 2006

Hearing and facial function outcomes for neurofibromatosis 2 clinical trials.

artículo científico publicado en 2013

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

artículo científico publicado en 2008

Hippocampal involvement in identical twins with neurofibromatosis type 1.

artículo científico publicado en 2001

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

artículo científico publicado en 2002

Late-onset optic pathway tumors in children with neurofibromatosis 1.

artículo científico publicado en 2004

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

artículo científico publicado en 2014

MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment

artículo científico publicado en 1993

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

artículo científico publicado en 2009

Management of Guillain-Barré syndrome.

artículo científico publicado en 1987

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

artículo científico publicado el 1 de febrero de 1998

Neurofibromatosis 1

artículo científico publicado en 2006

Neurofibromatosis 1 and multiple sclerosis.

artículo científico publicado en 1995

Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective.

artículo científico publicado en 2007

Neurofibromatosis type 1 (NF1): diagnosis and management.

artículo científico

Neurofibromatosis-related tumors: emerging biology and therapies

artículo científico publicado en 2015

Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations.

artículo científico publicado en 2007

Plasma exchange for Guillain-Barré syndrome

artículo científico publicado en 1989

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

scientific article published on 01 May 2013

Spinal neurofibroma presenting as atlanto-axial subluxation in von Recklinghausen neurofibromatosis

artículo científico publicado en 1989

The impact of PET scanning on management of paediatric oncology patients.

artículo científico publicado en 2004

The neurofibromatoses

scientific article published on 01 April 2010

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

artículo científico

Visual function and optic pathway glioma: a critical response.

artículo científico publicado en 2013

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

scientific article published on 01 February 2010

Lista de obras de Ferner R

'Phantom' typical absences, absence status and experiential phenomena

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

A qualitative study of the impact of living with neurofibromatosis type 2.

A search for evidence of somatic mutations in the NF1 gene.

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

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

Autologous peripheral blood stem cell transplantation for chronic acquired demyelinating neuropathy

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

Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1.

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

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

Focal inhibitory seizures: a cause of recurrent transient weakness

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

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

Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

Hearing and facial function outcomes for neurofibromatosis 2 clinical trials.

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

Hippocampal involvement in identical twins with neurofibromatosis type 1.

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

Late-onset optic pathway tumors in children with neurofibromatosis 1.

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

MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment

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

Management of Guillain-Barré syndrome.

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

Neurofibromatosis 1

Neurofibromatosis 1 and multiple sclerosis.

Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective.

Neurofibromatosis type 1 (NF1): diagnosis and management.

Neurofibromatosis-related tumors: emerging biology and therapies

Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations.

Plasma exchange for Guillain-Barré syndrome

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

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

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

Spinal neurofibroma presenting as atlanto-axial subluxation in von Recklinghausen neurofibromatosis

The impact of PET scanning on management of paediatric oncology patients.

The neurofibromatoses

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

Visual function and optic pathway glioma: a critical response.

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