(Q33676443)

28 July 2017

title

Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene (English)

1 reference

Encephalocraniocutaneous lipomatosis

28 July 2017

main subject

1 reference

Legius E

1

1 reference

28 July 2017

Wu R

2

1 reference

28 July 2017

Eyssen M

3

1 reference

28 July 2017

Marynen P

4

1 reference

28 July 2017

Fryns JP

5

1 reference

28 July 2017

Cassiman JJ

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 April 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

32

1 reference

28 July 2017

issue

4

1 reference

28 July 2017

page(s)

316-319

1 reference

Neurofibromatosis type 1: magnetic resonance imaging findings

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Proteus syndrome: clinical evidence for somatic mosaicism and selective review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Arterial lesions associated with neurofibromatosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

The multiple manifestations of the encephalocraniocutaneous lipomatosis syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

21 June 2018

Genetics of human cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Proteus syndrome and neurofibromatosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Type 1 neurofibromatosis and the pediatric patient

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Encephalocraniocutaneous lipomatosis: case report and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1)

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Encephalocraniocutaneous lipomatosis and Proteus syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050386

Neurofibromatosis 1 mRNA expression in blood vessels

30 October 2018

1 reference

12 December 2020

Encephalocraniocutaneous lipomatosis

1 reference

12 December 2020

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

1 reference

12 December 2020

Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.4.316

1 reference

28 July 2017

1 reference

28 July 2017

1 reference