(Q53380748)

13 May 2018

title

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. (English)

1 reference

13 May 2018

1 reference

6

Helen V Firth

1 reference

13 May 2018

author name string

Emma M M Burkitt-Wright

1

1 reference

13 May 2018

Lisa Bradley

2

1 reference

13 May 2018

Jennifer Shorto

3

1 reference

13 May 2018

Vivienne P M McConnell

4

1 reference

13 May 2018

Caroline Gannon

5

1 reference

13 May 2018

Soo-Mi Park

7

1 reference

13 May 2018

Angela D'Amore

8

1 reference

13 May 2018

Paul F Munyard

9

1 reference

13 May 2018

Peter D Turnpenny

10

1 reference

13 May 2018

Amanda Charlton

11

1 reference

13 May 2018

Meredith Wilson

12

1 reference

13 May 2018

Bronwyn Kerr

13

1 reference

13 May 2018

language of work or name

English

0 references

publication date

11 April 2012

1 reference

13 May 2018

American Journal of Medical Genetics

published in

1 reference

13 May 2018

volume

158A

1 reference

13 May 2018

issue

5

1 reference

13 May 2018

page(s)

1102-1110

1 reference

13 May 2018

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Congenital alveolar dysplasia of the lungs

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Germline mutations in HRAS proto-oncogene cause Costello syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

The number of alveoli in the terminal respiratory unit of man during late intrauterine life and childhood

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Tumorigenic conversion of primary embryo fibroblasts requires at least two cooperating oncogenes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Human EJ bladder carcinoma oncogene is homologue of Harvey sarcoma virus ras gene

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Pilocytic astrocytoma in a child with Noonan syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Diffuse lung disease in infancy: a proposed classification applied to 259 diagnostic biopsies.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

13 August 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4495255

13 August 2018

https://api.crossref.org/works/10.1002%2FAJMG.A.35296

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.35296

Severe neonatal manifestations of Costello syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.35296

Capillary apposition and density in the diagnosis of alveolar capillary dysplasia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.35296

Myopathology in patients with a Noonan phenotype

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22495892

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.35296

1 reference

13 May 2018

PMC publication ID

4495255

1 reference

13 May 2018

PubMed publication ID

22495892

1 reference

13 May 2018