(Q37977296)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22261753%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22261753%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22261753%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Angela E Lin

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22261753%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

language of work or name

English

0 references

publication date

1 March 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22261753%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22261753%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22261753%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22261753%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

285-292

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22261753%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.0b013e31822dd91f

20 January 2020

exact match

0 references

cites work

Tumor predisposition in Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Germline mutations in HRAS proto-oncogene cause Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Costello syndrome and related disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Is the locus for Costello syndrome on 11p?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Further delineation of cardiac abnormalities in Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Longitudinal assessment of cognitive characteristics in Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Costello syndrome and neurological abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Further delineation of the behavioral and neurologic features in Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

The adult phenotype in Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

The musculoskeletal phenotype of the RASopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Costello syndrome: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Severe neonatal manifestations of Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Clarification of previously reported Costello syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Obstructive sleep apnea in Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Living with Costello syndrome: quality of life issues in older individuals

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Second case of bladder carcinoma in a patient with Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021

Elevated catecholamine metabolites in patients with Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822DD91F

7 January 2021