(Q54511051)

English

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. (English)

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

hypertrophic obstructive cardiomyopathy

0 references

1 reference

based on heuristic

inferred from title

Marc K. Halushka

7

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

author name string

Jill A Fahrner

1

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

Aisha Frazier

2

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

Suha Bachir

3

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

Michael F Walsh

4

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

Carolyn D Applegate

5

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

Reid Thompson

6

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

Anne M Murphy

8

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

Meral Gunay-Aygun

9

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

language of work or name

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publication date

14 May 2012

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

158A

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

6

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

1414-1421

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

Noonan syndrome and clinically related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

A new bioinformatics analysis tools framework at EMBL-EBI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Malignant diseases in Noonan syndrome and related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Leopard syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Clustal W and Clustal X version 2.0

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

LEOPARD syndrome: clinical diagnosis in the first year of life

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Predicting deleterious amino acid substitutions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

4 June 2018

The face of Noonan syndrome: Does phenotype predict genotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

16 June 2018

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello 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=5101836

13 August 2018

PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

13 August 2018

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

13 August 2018

Increased HVA detected on organic acid analysis in a patient with Costello syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

13 August 2018

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

13 August 2018

Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

13 August 2018

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5101836

13 August 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35363

21 January 2018

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35363

21 January 2018

PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35363

21 January 2018

Lethal presentation of neurofibromatosis and Noonan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22585553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22585553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/22585553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated catecholamine metabolites in patients with Costello syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22585553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.35363

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

30 May 2018

http://europepmc.org/abstract/PMC/5101836

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