(Q34425369)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939586%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome (English)

1 reference

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20 March 2020

1 reference

1 reference

16

1 reference

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20 March 2020

Lisenka Vissers

1

1 reference

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20 March 2020

Suzanna G.m. Frints

5

1 reference

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20 March 2020

Joep de Ligt

6

1 reference

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20 March 2020

Ana Justino

8

1 reference

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20 March 2020

José C. Machado

9

1 reference

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20 March 2020

Joris A Veltman

12

1 reference

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20 March 2020

Jose Luis Costa

15

1 reference

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20 March 2020

11

Han G Brunner

1 reference

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20 March 2020

4

Willy M Nillesen

1 reference

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20 March 2020

18

Helger G Yntema

1 reference

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20 March 2020

author name string

Monica Bonetti

2

1 reference

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20 March 2020

Jeroen Paardekooper Overman

3

1 reference

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20 March 2020

Giuseppe Zampino

7

1 reference

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20 March 2020

Marga Schepens

10

1 reference

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20 March 2020

Hans Scheffer

13

1 reference

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20 March 2020

Piet Gros

14

1 reference

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20 March 2020

Ineke van der Burgt

17

1 reference

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20 March 2020

Jeroen den Hertog

19

1 reference

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20 March 2020

publication date

18 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939586%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

20 March 2020

published in

1 reference

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20 March 2020

volume

23

1 reference

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20 March 2020

issue

3

1 reference

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20 March 2020

page(s)

317-324

1 reference

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https://scigraph.springernature.com/pub.10.1038/ejhg.2014.115

20 March 2020

exact match

0 references

cites work

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Cardiac findings in Noonan syndrome on long-term follow-up

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

The crystal structure of human α2-macroglobulin reveals a unique molecular cage

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Signal integration and coincidence detection in the mitogen-activated protein kinase/extracellular signal-regulated kinase (ERK) cascade: concomitant activation of receptor tyrosine kinases and of LRP-1 leads to sustained ERK phosphorylation via dow

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Noonan syndrome and clinically related disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Alpha2 macroglobulin-like is essential for liver development in zebrafish

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Binding of alpha2ML1 to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

High-resolution in situ hybridization to whole-mount zebrafish embryos

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Low density lipoprotein receptor-related protein 1 (LRP1) controls endocytosis and c-CBL-mediated ubiquitination of the platelet-derived growth factor receptor beta (PDGFR beta).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Models@Home: distributed computing in bioinformatics using a screensaver based approach

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Restricted expression of cardiac myosin genes reveals regulated aspects of heart tube assembly in zebrafish.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Noonan syndrome: a review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4326711

Diagnostic exome sequencing in persons with severe intellectual disability

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.115

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.115

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.115

Mild variable Noonan syndrome in a family with a novel PTPN11 mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24939586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/24939586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939586%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939586%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

PubMed publication ID

24939586

1 reference