(Q34577777)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17362838%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

review article

1 reference

title

Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17362838%20AND%20SRC:MED&resulttype=core&format=json

neurofibromatosis type II

27 December 2019

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17362838%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

Rosalie E Ferner

series ordinal

1

1 reference

3 August 2017

1 April 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17362838%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17362838%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17362838%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

page(s)

340-351

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17362838%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17362838%20AND%20SRC:MED&resulttype=core&format=json

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

27 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Hereditary spinal neurofibromatosis: a rare form of NF1?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

The neurofibromatosis type 1 gene encodes a protein related to GAP

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

The nature and frequency of cognitive deficits in children with neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Treatment of ADHD in neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Patterns of seizures observed in association with neurofibromatosis 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Neurological complications of neurofibromatosis type 1 in adulthood.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Natural history of neurofibromatosis 1-associated optic nerve glioma in mice

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Radiation-induced moyamoya syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Lisch nodules in neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Lisch nodules of the iris in neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Frequency of choroidal abnormalities in neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Neurofibromatosis type 1 and pregnancy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Plexiform neurofibromas

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Plexiform neurofibromas in NF1: toward biologic-based therapy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Phase I trial and pharmacokinetic study of the farnesyltransferase inhibitor tipifarnib in children with refractory solid tumors or neurofibromatosis type I and plexiform neurofibromas.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Association between benign and malignant peripheral nerve sheath tumors in NF1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Neurofibromas in NF1: Schwann cell origin and role of tumor environment

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Single cell Ras-GTP analysis reveals altered Ras activity in a subpopulation of neurofibroma Schwann cells but not fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Differences in proliferation and invasion by normal, transformed and NF1 Schwann cell cultures are influenced by matrix metalloproteinase expression

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Epidermal growth factor receptor expression in neurofibromatosis type 1-related tumors and NF1 animal models

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Expression of p27(kip) and other cell cycle regulators in malignant peripheral nerve sheath tumors and neurofibromas: the emerging role of p27(kip) in malignant transformation of neurofibromas

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Mouse models of tumor development in neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Gene expression profiling reveals unique molecular subtypes of Neurofibromatosis Type I-associated and sporadic malignant peripheral nerve sheath tumors.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Neurofibroma and cellular neurofibroma with atypia: a report of 14 tumors

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Decreased bone mineral density in patients with neurofibromatosis 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Preimplantation diagnosis for neurofibromatosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Evaluation of clinical diagnostic criteria for neurofibromatosis 2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Diagnostic criteria for schwannomatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Increasing the specificity of diagnostic criteria for schwannomatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

ERM (ezrin/radixin/moesin) family: from cytoskeleton to signal transduction

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Expression of schwannomin in lens and Schwann cells

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 protein

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Nf2 gene inactivation in arachnoidal cells is rate-limiting for meningioma development in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

The NF2 tumor suppressor gene product, merlin, mediates contact inhibition of growth through interactions with CD44

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Paediatric presentation of type 2 neurofibromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

The diagnosis and management of neurofibromatosis 2 in childhood

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Vestibular (acoustic) schwannomas: histologic features in neurofibromatosis 2 and in unilateral cases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Fludeoxyglucose F 18 positron emission tomography and computed tomography of a giant retroperitoneal schwannoma occurring in a patient with neurofibromatosis type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Auditory brainstem implantation in patients with neurofibromatosis type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Cochlear implantation in patients with neurofibromatosis type 2 and bilateral vestibular schwannoma

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Clinical experience with gamma knife stereotactic radiosurgery in the management of vestibular schwannomas secondary to type 2 neurofibromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Meningioangiomatosis associated with neurofibromatosis: report of 2 cases in a single family and review of the literature.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Phenotypic variability associated with 14 splice-site mutations in the NF2 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Genotype-phenotype correlations for cataracts in neurofibromatosis 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970075-3

7 January 2021

10.1016/S1474-4422(07)70075-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17362838%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference