(Q44153668)

30 November 2017

title

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

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30 November 2017

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2

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30 November 2017

Maheshwari M

1

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30 November 2017

Fernbach S

3

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30 November 2017

Ho T

4

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30 November 2017

Molinari L

5

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30 November 2017

Yakub I

6

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30 November 2017

Yu F

7

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30 November 2017

Combes A

8

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30 November 2017

Towbin J

9

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30 November 2017

Craigen WJ

10

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30 November 2017

Gibbs R

11

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30 November 2017

publication date

1 October 2002

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30 November 2017

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30 November 2017

volume

20

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30 November 2017

issue

4

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30 November 2017

page(s)

298-304

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Noonan syndrome: the changing phenotype.

30 November 2017

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Spatial constraints on the recognition of phosphoproteins by the tandem SH2 domains of the phosphatase SH-PTP2

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

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SHP-2, SH2-containing protein tyrosine phosphatase-2.

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Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B

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

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

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Surfing the insulin signaling web

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Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

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7 January 2021

Noonan syndrome: a clinical and genetic study of 31 patients

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7 January 2021

Terminal differentiation of chondrocytes in culture is a spontaneous process and is arrested by transforming growth factor-beta 2 and basic fibroblast growth factor in synergy

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7 January 2021

Neurofibromatosis-Noonan syndrome

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7 January 2021

Noonan syndrome: partial factor XI deficiency

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7 January 2021

Noonan syndrome and aortic coarctation

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7 January 2021

King syndrome: further clinical variability and review of the literature

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7 January 2021

Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments

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7 January 2021

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

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7 January 2021

Lymphocyte activation: the coming of the protein tyrosine phosphatases

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7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.10129

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Cardiovascular anomalies in Noonan's syndrome

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7 January 2021

Identifiers

DOI

10.1002/HUMU.10129

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30 November 2017

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