Neurofibromatosis type 1 (Q56093335)

Journal of the American Academy of Dermatology

Europe PubMed Central

title

Neurofibromatosis type 1 (English)

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author name string

Kevin P Boyd

series ordinal

1

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Bruce R Korf

series ordinal

2

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Amy Theos

series ordinal

3

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language of work or name

English

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publication date

July 2009

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published in

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volume

61

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page(s)

1-14; quiz 15-6

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issue

1

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cites work

Nf1-dependent tumors require a microenvironment containing Nf1+/-- and c-kit-dependent bone marrow

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Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial

24 August 2018

1 reference

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Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1).

24 August 2018

1 reference

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Plexiform and dermal neurofibromas and pigmentation are caused by Nf1 loss in desert hedgehog-expressing cells

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Treatment of pigmented lesions of neurofibromatosis 1 with intense pulsed-radio frequency in combination with topical application of vitamin D3 ointment

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Antitumoral activity of rapamycin in renal angiomyolipoma associated with tuberous sclerosis complex

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Cognitive profile of neurofibromatosis type 1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Double inactivation of NF1 in tibial pseudarthrosis

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Pathophysiology of neurofibromatosis type 1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Decreased bone mineral density in patients with neurofibromatosis 1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

T2-weighted hyperintensities (unidentified bright objects) in children with neurofibromatosis 1: their impact on cognitive function.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Cutaneous melanoma with neurofibromatosis type 1: rare association? A case report and review of the literature

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Cutaneous malignant melanoma and neurofibromatosis type 1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Elevated risk for MPNST in NF1 microdeletion patients

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

[Blue-red macules and pseudoatrophic macules in neurofibromatosis 1]

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Iris melanoma in a patient with neurofibromatosis

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Localized pruritus: a presenting symptom of a spinal cord tumor in a child with features of neurofibromatosis

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Association between cutaneous melanoma and neurofibromatosis type 1: analysis of three clinical cases and review of the literature

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

A case of multiple subungual glomus tumors associated with neurofibromatosis type 1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

The diagnostic value of café-au-lait macules

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Vitamin D3 analogues improve café au lait spots in patients with von Recklinghausen's disease: experimental and clinical studies

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Familial café au lait spots: a variant of neurofibromatosis type 1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Neurofibromatosis: clinical heterogeneity

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Blue-red macules and pseudoatrophic macules: additional cutaneous signs in neurofibromatosis.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Von Recklinghausen neurofibromatosis

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Association of juvenile xanthogranuloma with juvenile myeloid leukemia

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Nevus Anemicus: A Unique Catecholamine-Dependent Nevus

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Diagnostic value of the café-au-lait spot in children

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Ophthalmic manifestations of neurofibromatosis

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Iris hamartomata as diagnostic criterion in neurofibromatosis

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5).

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

A cell culture study on melanocytes from patients with neurofibromatosis-1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Juvenile chronic granulocytic leukemia, juvenile xanthogranulomas, and neurofibromatosis. Case report and review of the literature

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Penetrance and variability in neurofibromatosis: a genetic study of 60 families

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2716546

Juvenile xanthogranuloma, neurofibromatosis 1, and juvenile chronic myeloid leukemia

30 November 2018

1 reference

12 December 2020

Neurofibromatous dermal hypoplasia: a clinical, pharmacological and ultrastructural study

1 reference

12 December 2020

Iris (Lisch) nodules in neurofibromatosis

1 reference

12 December 2020

1 reference

12 December 2020

Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases

1 reference

12 December 2020

Phase II trial of pirfenidone in adults with neurofibromatosis type 1

1 reference

12 December 2020

Phase I trial of pirfenidone in children with neurofibromatosis 1 and plexiform neurofibromas

1 reference

12 December 2020

Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes

1 reference

12 December 2020

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

1 reference

12 December 2020

Neurofibromatosis type 1

1 reference

12 December 2020

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

1 reference

12 December 2020

JXG, NF1, and JMML: alphabet soup or a clinical issue?

1 reference

12 December 2020

1 reference

12 December 2020

Segmental neurofibromatosis

1 reference

12 December 2020

[Diagnostic value of café-au-lait spots (author's transl)]

1 reference

12 December 2020

Pathophysiology of neurofibromatosis. IV. Dermatologic insights into heterogeneity and pathogenesis

1 reference

12 December 2020

Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata

1 reference

12 December 2020

Optic gliomas in children with neurofibromatosis type 1

1 reference

12 December 2020

The diagnosis of neurofibromatosis-1 in the child under the age of 6 years

1 reference

12 December 2020

[The classification of atypical forms of neurofibromatosis]

1 reference

12 December 2020

Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage

1 reference

12 December 2020

Segmental neurofibromatosis of the sciatic nerve: case report

1 reference

12 December 2020

What is segmental neurofibromatosis?

1 reference

12 December 2020

Three cases of subungual glomus tumors with von Recklinghausen neurofibromatosis

1 reference

12 December 2020

Regulated expression of neurofibromin in migrating neural crest cells of avian embryos

1 reference

12 December 2020

Pseudoatrophic macules: a variant of neurofibroma

1 reference

12 December 2020