Neurofibromatosis 1: clinical manifestations and diagnostic criteria (Q34982022)

5 August 2017

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title

Neurofibromatosis 1: clinical manifestations and diagnostic criteria (English)

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5 August 2017

J M Friedman

1

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5 August 2017

1 August 2002

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Journal of Child Neurology

5 August 2017

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5 August 2017

17

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5 August 2017

8

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5 August 2017

548-54; discussion 571-2, 646-51

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The giant melanosome: a model of deranged melanosome-morphogenesis.

5 August 2017

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Giant and "granular melanosomes" in Leopard syndrome: an ultrastructural study

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

21 January 2018

Plexiform neurofibromas

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Lisch nodules in neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Von Recklinghausen neurofibromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Intracranial gliomas in neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Neurofibromatosis type 1--an update and review for the primary pediatrician

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

MRI diagnosis of NF-1 in children without café-au-lait skin lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

MRI findings in children with neurofibromatosis type 1: a prospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Neurofibromatosis type 1: magnetic resonance imaging findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Central nervous system imaging in reevaluation of patients with neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis 1 in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Insights into the pathogenesis of neurofibromatosis 1 vasculopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Loss of NF1 alleles distinguish sporadic from NF1-associated pilocytic astrocytomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Growth in North American white children with neurofibromatosis 1 (NF1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Associations of clinical features in neurofibromatosis 1 (NF1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Hereditary spinal neurofibromatosis: a rare form of NF1?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Neurofibromatosis type I and malignancy: review of 32 pediatric cases treated at a single institution

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Cerebrovascular disorders associated with von Recklinghausen's neurofibromatosis: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

Neurovascular manifestations of heritable connective tissue disorders. A review

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700802

10.1177/088307380201700802

21 January 2018

Identifiers

DOI

0 references

PubMed ID

12403552

1 reference

PubMed ID

12403552