(Q24515021)

1 July 2017

title

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

1 reference

1 July 2017

1 reference

1 reference

https://api.crossref.org/works/10.1136/JMG.28.11.752

19 November 2022

author name string

MacKenzie A

5

1 reference

1 July 2017

MacLeod H

7

1 reference

1 July 2017

J. E. Allanson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

19 November 2022

M. Upadhyaya

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

19 November 2022

G. H. Watson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

19 November 2022

M. Partington

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

19 November 2022

A. MacKenzie

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

19 November 2022

D. Lahey

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

19 November 2022

H. MacLeod

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

19 November 2022

M. Sarfarazi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

19 November 2022

W. Broadhead

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

19 November 2022

P. S. Harper

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

19 November 2022

language of work or name

English

0 references

publication date

1 November 1991

1 reference

full work available at URL

1 July 2017

https://europepmc.org/articles/PMC1017110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770531

https://europepmc.org/articles/PMC1017110?pdf=render

19 November 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%3A1770531

https://syndication.highwire.org/content/doi/10.1136/jmg.28.11.752

19 November 2022

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1136/JMG.28.11.752

Journal of Medical Genetics

19 November 2022

published in

1 reference

1 July 2017

volume

28

1 reference

1 July 2017

issue

11

1 reference

1 July 2017

page(s)

752-756

1 reference

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

1 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=1017110

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

Pulmonary stenosis, cafe-au-lait spots, and dull intelligence

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

Cardiac abnormalities in neurofibromatosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

Refined physical and genetic mapping of the NF1 region on chromosome 17

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

Close flanking markers for neurofibromatosis type I (NF1).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

Noonan syndrome: the changing phenotype.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

Neurofibromatosis I: Predicting the relation of gene structure to gene function

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017110

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

29 November 2018

1 reference

12 December 2020

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

1 reference

12 December 2020

Noonan phenotype associated with neurofibromatosis

1 reference

12 December 2020

Report of the Committee on Methods of Linkage Analysis and Reporting

1 reference

12 December 2020

Neurofibromatosis and congenital heart disease

1 reference

12 December 2020

Neurofibromatosis: Phenotype, natural history, and pathogenesis

18

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1136/JMG.28.11.752

19 November 2022

Identifiers

DOI

1 reference

OpenCitations bibliographic resource ID

1 July 2017

3389337

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3389337

1 reference