Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome (Q34326050)

1 August 2017

title

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

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1 August 2017

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Viviana Cordeddu

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Hans Gerd Kehl

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Maria Hoeltzenbein

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Maria M Sasiadek

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Martin Zenker

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1 August 2017

Judith Allanson

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Luciana Musante

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Thomas E Neumann

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Ines Kavamura

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Bronwyn Kerr

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Giovanni Neri

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Jacqueline Noonan

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Kate Gibson

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Andreas Tzschach

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Gabriele Krüger

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Timm O Goecke

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Beate Albrecht

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Klaudiusz Luczak

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Rohan Laurie

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Hartmut Peters

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publication date

15 October 2008

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

page(s)

420-425

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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

1 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

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

6 July 2018

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An unexpected new role of mutant Ras: perturbation of human embryonic development

6 July 2018

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Deregulated Ras signaling in developmental disorders: new tricks for an old dog.

6 July 2018

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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=2986220

Neurofibromatosis presenting with a cherubism phenotype

6 July 2018

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

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

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

Germline KRAS mutations cause Noonan syndrome

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

Germline KRAS and BRAF mutations in cardio-facio-cutaneous 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=2986220

Germline mutations in HRAS proto-oncogene cause Costello syndrome

6 July 2018

1 reference

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The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

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

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

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

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

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

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

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

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

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

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

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

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

Noonan-like/multiple giant cell lesion syndrome

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986220

Hypertelorism With Turner Phenotype

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.188

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.188

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.188

PTPN11 mutations in LEOPARD syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.188

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.188

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.188

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.188

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.188

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.188

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.188

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.2008.188

Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: A previously undescribed association of findings

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.188

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

21 January 2018

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12 December 2020

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12 December 2020

Giant cell tumor of the occipital bone in a case of von Recklinghausen neurofibromatosis

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12 December 2020

A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism

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12 December 2020

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.188

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Dimensions Publication ID

1 August 2017

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1 August 2017

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