(Q33593854)

28 July 2017

title

Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus (English)

1 reference

28 July 2017

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348095

restriction fragment length polymorphism

16 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348095

neurofibromatosis 1 genes

16 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348095

16 September 2022

author name string

M. Sharland

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348095

16 September 2022

R. Taylor

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348095

16 September 2022

M. A. Patton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348095

16 September 2022

S. Jeffery

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348095

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/PMC1015895

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348095

https://europepmc.org/articles/PMC1015895?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%3A1348095

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)

188-190

1 reference

A comprehensive scoring system for evaluating Noonan syndrome.

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=1015895

Strategies for multilocus linkage analysis in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015895

Regional localization on the human X of DNA segments cloned from flow sorted chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015895

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015895

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015895

Noonan syndrome: the changing phenotype.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015895

Noonan syndrome: a 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=1015895

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=1015895

Detection of specific sequences among DNA fragments separated by gel electrophoresis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015895

The neurofibromatosis-Noonan syndrome

21 June 2018

1 reference

12 December 2020

Abnormal phenotype in a child with the same balanced translocation (5;7)(p15;q22) as his father

1 reference

12 December 2020

Neurofibromatosis with fully expressed Noonan syndrome

1 reference

12 December 2020

Chromosome 13 long arm interstitial deletion associated with features of Noonan phenotype.

1 reference

12 December 2020

1 reference

12 December 2020

Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome

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

Identifiers

DOI

10.1136/JMG.29.3.188

1 reference

28 July 2017

1 reference

28 July 2017

1 reference