(Q35592549)

9 August 2017

title

Ophthalmological manifestations in segmental neurofibromatosis type 1 (English)

1 reference

9 August 2017

M Ruggieri

1

1 reference

9 August 2017

P Pavone

2

1 reference

9 August 2017

A Polizzi

3

1 reference

9 August 2017

M Di Pietro

4

1 reference

9 August 2017

A Scuderi

5

1 reference

9 August 2017

A Gabriele

6

1 reference

9 August 2017

A Spalice

7

1 reference

9 August 2017

P Iannetti

8

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 November 2004

1 reference

9 August 2017

number of pages

5

1 reference

British Journal of Ophthalmology

inferred from page(s)

published in

1 reference

9 August 2017

volume

88

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9 August 2017

issue

11

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9 August 2017

page(s)

1429-1433

1 reference

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

Familial schwannomatosis: exclusion of the NF2 locus as the germline event

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

Extracutaneous analogies of Blaschko lines

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

Segmental neurofibromatosis: case reports and review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

Schwannomatosis: a clinical and pathologic study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

Neurofibromatosis type 1 in children

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

Neurofibromatosis: clinical heterogeneity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

Usefulness of screening investigations in neurofibromatosis type 1. A study of 152 patients.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

A clinical study of patients with multiple isolated neurofibromas

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772378

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

15 November 2018

1 reference

12 December 2020

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5)

1 reference

12 December 2020

Multiple unilateral schwannomas: segmental neurofibromatosis type 2 or schwannomatosis?

1 reference

12 December 2020

Segmental neurofibromatosis in childhood

1 reference

12 December 2020

Somatic Instability of the NF2 Gene in Schwannomatosis

1 reference

12 December 2020

Segmental neurofibromatosis

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

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

Segmental neurofibromatosis: is it uncommon or underdiagnosed?

1 reference

12 December 2020

More on the frequency of segmental neurofibromatosis

1 reference

12 December 2020

A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene

1 reference

12 December 2020

The different forms of neurofibromatosis

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.2004.043802

1 reference

9 August 2017

1 reference

9 August 2017

1 reference