(Q44360479)

English

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

scientific article published in February 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

0 references

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

Noonan syndrome

1 reference

based on heuristic

inferred from title

Vera M. Kalscheuer

12

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

Maria Hoeltzenbein

object named as

Maria Hoeltzenbein

10

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object named as

Hans G Kehl

2

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Susann Schweiger

5

object named as

Susann Schweiger

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

Luciana Musante

1

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Luciana Musante

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

Dagmar Wieczorek

7

object named as

Dagmar Wieczorek

1 reference

Europe PubMed Central

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2 December 2017

author name string

Frank Majewski

3

1 reference

Europe PubMed Central

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2 December 2017

Peter Meinecke

4

1 reference

Europe PubMed Central

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2 December 2017

Gabriele Gillessen-Kaesbach

6

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2 December 2017

Georg K Hinkel

8

1 reference

Europe PubMed Central

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2 December 2017

Sigrid Tinschert

9

1 reference

Europe PubMed Central

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2 December 2017

Hans-Hilger Ropers

11

1 reference

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2 December 2017

publication date

1 February 2003

1 reference

Europe PubMed Central

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2 December 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

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2 December 2017

11

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2 December 2017

2

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2 December 2017

201-206

1 reference

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2 December 2017

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

Crystal structure of the tyrosine phosphatase SHP-2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

Noonan syndrome: the changing phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

A clinical study of Noonan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

Noonan syndrome: growth and clinical manifestations in 144 cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

Prevalence of priapism in children and adolescents with sickle cell anemia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

Occurrence of myeloproliferative disorder in patients with Noonan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

Abdominal ultrasound in Noonan syndrome: A study of 44 patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular studies in a large Dutch family with Noonan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

7 January 2021

based on heuristic

inferred from DOI database lookup

Potent stimulation of SH-PTP2 phosphatase activity by simultaneous occupancy of both SH2 domains

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

7 January 2021

based on heuristic

inferred from DOI database lookup

The Noonan-CFC controversy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

7 January 2021

based on heuristic

inferred from DOI database lookup

More on the Noonan-CFC controversy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

7 January 2021

based on heuristic

inferred from DOI database lookup

Partial deletion of chromosome 12q is not usually associated with CFC syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200935

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5200935

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

ResearchGate publication ID

0 references

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