(Q54392173)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311457%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Multiple café au lait spots in familial patients with MAP2K2 mutation (English)

1 reference

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2 March 2020

6

1 reference

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2 March 2020

5

Takao Takahashi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311457%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

2

Atsushi Shimizu

1 reference

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2 March 2020

author name string

Toshiki Takenouchi

1

1 reference

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2 March 2020

Chiharu Torii

3

1 reference

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2 March 2020

Rika Kosaki

4

1 reference

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2 March 2020

Kenjiro Kosaki

7

1 reference

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2 March 2020

language of work or name

English

0 references

publication date

5 December 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311457%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

2 March 2020

number of pages

5

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

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2 March 2020

volume

164A

1 reference

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2 March 2020

issue

2

1 reference

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2 March 2020

page(s)

392-396

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311457%20AND%20SRC:MED&resulttype=core&format=json

A restricted spectrum of NRAS mutations causes Noonan syndrome

2 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Structures of human MAP kinase kinase 1 (MEK1) and MEK2 describe novel noncompetitive kinase inhibition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Vertical transmission of the neurofibromatosis/Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Noonan syndrome: clinical aspects and molecular pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36288

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36288

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24311457%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference