(Q53809069)

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Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.

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Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. (English)

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Noonan syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

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9

object named as

Martin Zenker

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Reinhard Kandolf

12

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Reinhard Kandolf

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Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

author name string

Andreas Hahn

1

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Jessica Lauriol

2

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Josef Thul

3

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Kachina Behnke-Hall

4

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Tushiha Logeswaran

5

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Anne Schänzer

6

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Nuray Böğürcü

7

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Boyan K Garvalov

8

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Bruce D Gelb

10

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Susanne von Gerlach

11

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Maria I Kontaridis

13

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

Dietmar Schranz

14

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Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

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publication date

23 February 2015

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20 May 2018

http://europepmc.org/abstract/PMC/4598061

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8

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American Journal of Medical Genetics

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http://europepmc.org/abstract/PMC/4598061

167A

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http://europepmc.org/abstract/PMC/4598061

4

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20 May 2018

http://europepmc.org/abstract/PMC/4598061

744-751

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Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

describes a project that uses

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4598061/fullTextXML

based on heuristic

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PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

RASopathies: 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=4598061

22 May 2018

Clinical manifestations of mutations in RAS and related intracellular signal transduction factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

mTOR attenuates the inflammatory response in cardiomyocytes and prevents cardiac dysfunction in pathological hypertrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

Leopard syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

22 May 2018

Cardiac raptor ablation impairs adaptive hypertrophy, alters metabolic gene expression, and causes heart failure in mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

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=4598061

13 August 2018

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4598061

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=4598061

13 August 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36982

21 January 2018

The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/25708222

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Grading the severity of congestive heart failure in infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/25708222

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.36982

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

1 reference

Europe PubMed Central

20 May 2018

http://europepmc.org/abstract/PMC/4598061

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