Neurofibromatosis 1 (Q80224253)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16957683%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

review article

1 reference

title

Neurofibromatosis 1 (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16957683%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1

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29 December 2019

publication date

6 September 2006

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16957683%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

29 December 2019

published in

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29 December 2019

volume

15

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29 December 2019

issue

2

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29 December 2019

page(s)

131-138

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Neurofibromatosis 1: from lab bench to clinic.

29 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

7 January 2021

Merlin differentially associates with the microtubule and actin cytoskeleton

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Mouse models of neurofibromatosis type I: bridging the GAP.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Treatment of ADHD in neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Merlin and the ERM proteins in Schwann cells, neurons and growth cones

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Diagnostic criteria for schwannomatosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

The neurofibromatosis type 1 gene encodes a protein related to GAP

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

First meeting of the Gene Vector Production network, 4-5 October 2001, Evry, France

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

7 January 2021

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

7 January 2021

Preimplantation diagnosis for neurofibromatosis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Neurofibromatosis type 1 and pregnancy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Neurological complications of neurofibromatosis type 1 in adulthood

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

7 January 2021

Epilepsy in neurofibromatosis 1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

7 January 2021

Identification of the neurofibromatosis type 1 gene product

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

A neurofibromatosis-1-regulated pathway is required for learning in Drosophila

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

7 January 2021

Mouse models of tumor development in neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

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/10.1038%2FSJ.EJHG.5201676

7 January 2021

Plexiform neurofibromas in NF1: toward biologic-based therapy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Transplantation of marrow-derived mesenchymal stem cells and platelet-rich plasma during distraction osteogenesis--a preliminary result of three cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201676

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201676

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16957683%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference