(Q44279421)

1 December 2017

title

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning (English)

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1 December 2017

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Els Schollen

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1 December 2017

Gert Matthijs

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1 December 2017

Marc Gewillig

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1 December 2017

Jean-Pierre Fryns

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1 December 2017

Eric Legius

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1 December 2017

publication date

1 January 2003

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European Journal of Human Genetics

1 December 2017

published in

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1 December 2017

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1 December 2017

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1 December 2017

page(s)

85-88

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Mapping a gene for Noonan syndrome to the long arm of chromosome 12

1 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

Shp-2 tyrosine phosphatase: signaling one cell or many

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

Crystal structure of the tyrosine phosphatase SHP-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

The Caenorhabditis elegans SH2 domain-containing protein tyrosine phosphatase PTP-2 participates in signal transduction during oogenesis and vulval development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

The nonreceptor protein tyrosine phosphatase corkscrew functions in multiple receptor tyrosine kinase pathways in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

inferred from DOI database lookup

7 January 2021

based on heuristic

Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200915

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200915

1 reference

1 December 2017

1 reference