(Q34327160)

1 August 2017

title

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions (English)

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1 August 2017

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5

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Alain Verloes

object named as

Alain Verloes

6

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1 August 2017

Hélène Cavé

2

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ORCID Public Data File 2021

author name string

Claire Beneteau

1

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1 August 2017

Anne Moncla

3

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1 August 2017

Nathalie Dorison

4

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1 August 2017

Bruno Leheup

7

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1 August 2017

publication date

8 April 2009

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

17

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1 August 2017

issue

10

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1 August 2017

page(s)

1216-1221

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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

SH3BP2 is an activator of NFAT activity and osteoclastogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Hyperactive Ras in developmental disorders and cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Noonan-like/multiple giant cell lesion syndrome: report of a case and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Stops along the RAS pathway in human genetic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Germline KRAS mutations cause Noonan syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Short stature in Noonan syndrome: response to growth hormone therapy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Cherubism in a patient with Noonan's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Differentiation of multiple giant cell lesions, Noonan-like syndrome, and (occult) hyperparathyroidism. Case report and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Polyarticular pigmented villonodular synovitis in children: evidence for a genetic contribution.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

The Noonan syndrome/cherubism association

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Noonan-like/multiple giant cell lesion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

Noonan syndrome with giant cell lesions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

Unusual form of recurrent giant cell granuloma of the mandible and lower extremities in a patient with neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

Neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

Polyarticular pigmented villonodular synovitis associated with multiple congenital anomalies. A case of Noonan-like/multiple giant cell lesion syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986637

Pigmented villonodular synovitis in a patient with Noonan syndrome andSOS1gene mutation

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.44

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

21 January 2018

1 reference

12 December 2020

A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma

1 reference

12 December 2020

Cherubism in a patient with Noonan syndrome: report of a case

1 reference

12 December 2020

Giant cell lesions with a Noonan-like phenotype: a case report

1 reference

12 December 2020

Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw

1 reference

12 December 2020

Multiple central giant cell lesions with a Noonan-like phenotype

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.44

1 reference

1 August 2017

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1 August 2017

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