(Q33593848)

28 July 2017

title

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

1 reference

neurofibromatosis 1 genes

28 July 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348094

16 September 2022

4

Fain PR

1 reference

28 July 2017

5

Goldgar DE

1 reference

28 July 2017

H. J. Stern

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348094

16 September 2022

H. M. Saal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348094

16 September 2022

J. S. Lee

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348094

16 September 2022

K. N. Rosenbaum

series ordinal

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348094

16 September 2022

D. F. Barker

series ordinal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348094

16 September 2022

language of work or name

English

0 references

publication date

1 March 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1015894

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348094

https://europepmc.org/articles/PMC1015894?pdf=render

16 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348094

Journal of Medical Genetics

16 September 2022

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

184-187

1 reference

Von Recklinghausen neurofibromatosis

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=1015894

Neurofibromatosis and hypertelorism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015894

Vertical transmission of the neurofibromatosis/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=1015894

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015894

The order of loci in the pericentric region of chromosome 17, based on evidence from physical and genetic breakpoints.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015894

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015894

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=1015894

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=1015894

The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015894

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

30 October 2018

1 reference

12 December 2020

A distinctive facial appearance in neurofibromatosis von Recklinghausen

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

Noonan phenotype associated with neurofibromatosis

1 reference

12 December 2020

Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis

1 reference

12 December 2020

Neurofibromatosis with fully expressed Noonan syndrome

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.3.184

1 reference

28 July 2017

1 reference

28 July 2017

1 reference