(Q52013875)

19 April 2018

title

Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype? (English)

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19 April 2018

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Sophia Kitsiou-Tzeli

1

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19 April 2018

Anna Papadopoulou

2

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19 April 2018

Christina Kanaka-Gantenbein

3

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19 April 2018

Andreas Fretzayas

4

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19 April 2018

Dimitris Daskalopoulos

5

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19 April 2018

Emmanuel Kanavakis

6

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19 April 2018

Polyxeni Nicolaidou

7

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19 April 2018

publication date

23 June 2006

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19 April 2018

published in

Hormone Research

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19 April 2018

volume

66

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19 April 2018

issue

3

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19 April 2018

page(s)

124-131

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19 April 2018

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

cites work

1 reference

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

21 January 2018

1 reference

PTPN11 (Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome

21 January 2018

1 reference

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

21 January 2018

1 reference

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

21 January 2018

1 reference

Genotype-phenotype correlations in Noonan syndrome

21 January 2018

1 reference

Germline KRAS mutations cause Noonan syndrome

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

SHP-2 and myeloid malignancies

21 January 2018

1 reference

A new PTPN11 mutation in juvenile myelomonocytic leukaemia associated with Noonan syndrome.

21 January 2018

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PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

21 January 2018

1 reference

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

Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report

21 January 2018

1 reference

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy

21 January 2018

1 reference

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

21 January 2018

1 reference

Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications.

21 January 2018

1 reference

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

21 January 2018

1 reference

Genetics and variation in phenotype in Noonan syndrome

21 January 2018

1 reference

Noonan syndrome: relationships between genotype, growth, and growth factors

21 January 2018

1 reference

Growth hormone therapy for syndromic disorders

21 January 2018

1 reference

Clinical evaluation of recombinant human growth hormone in Noonan syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

21 January 2018

1 reference

Growth hormone therapy in noonan syndrome

21 January 2018

1 reference

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

21 January 2018

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21 January 2018

Identifiers

DOI

10.1159/000094145

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19 April 2018

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19 April 2018