(Q80224253)

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Neurofibromatosis 1

scientific article published on 06 September 2006

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scholarly article

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29 December 2019

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Neurofibromatosis 1 (English)

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29 December 2019

1

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publication date

6 September 2006

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29 December 2019

European Journal of Human Genetics

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29 December 2019

15

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29 December 2019

2

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29 December 2019

131-138

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29 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201676

0 references

Neurofibromatosis 1: from lab bench to clinic.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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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

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7 January 2021

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Merlin differentially associates with the microtubule and actin cytoskeleton

1 reference

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7 January 2021

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Mouse models of neurofibromatosis type I: bridging the GAP.

1 reference

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7 January 2021

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Treatment of ADHD in neurofibromatosis type 1.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

based on heuristic

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Diagnostic criteria for schwannomatosis

1 reference

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7 January 2021

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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

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7 January 2021

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

1 reference

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7 January 2021

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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

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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

based on heuristic

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Preimplantation diagnosis for neurofibromatosis.

1 reference

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7 January 2021

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Neurofibromatosis type 1 and pregnancy

1 reference

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

7 January 2021

based on heuristic

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Malignant peripheral nerve sheath tumours in neurofibromatosis 1

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

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Neurological complications of neurofibromatosis type 1 in adulthood.

1 reference

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

7 January 2021

based on heuristic

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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

based on heuristic

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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

based on heuristic

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Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

1 reference

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

7 January 2021

based on heuristic

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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

based on heuristic

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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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Epilepsy in neurofibromatosis 1.

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Identification of the neurofibromatosis type 1 gene product

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

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

1 reference

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7 January 2021

based on heuristic

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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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Mouse models of tumor development in neurofibromatosis type 1

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

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

based on heuristic

inferred from DOI database lookup

Plexiform neurofibromas in NF1: toward biologic-based therapy

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

based on heuristic

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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

based on heuristic

inferred from DOI database lookup

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201676

1 reference

Europe PubMed Central

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

Europe PubMed Central

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

29 December 2019

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