(Q57552088)

9

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author name string

M. Cristina Digilio

1

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Anna Sarkozy

2

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Rossella Capolino

3

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M. Beatrice Chiarini Testa

4

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Giorgia Esposito

5

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Andrea de Zorzi

6

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Bruno Marino

European Journal of Pediatrics

8

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publication date

29 August 2007

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published in

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volume

167

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issue

6

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page(s)

621-628

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cites work

Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome. Report of two cases

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-007-0558-0

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

21 January 2018

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12 December 2020

An infant with Costello syndrome complicated with fatal hypertrophic obstructive cardiomyopathy

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12 December 2020

Cardiac disease in Costello syndrome

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12 December 2020

Costello syndrome: the natural history of a true postnatal growth retardation syndrome

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12 December 2020

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

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12 December 2020

Comparative biochemical properties of normal and activated human ras p21 protein

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12 December 2020

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

1 reference

12 December 2020

Not a new MCA/MR syndrome but probably Costello syndrome?

1 reference

12 December 2020

New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.

1 reference

12 December 2020

Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

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12 December 2020

Costello syndrome: an overview

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LEOPARD syndrome: clinical diagnosis in the first year of life

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HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

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12 December 2020

Costello syndrome: report and review.

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12 December 2020

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

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12 December 2020

Prenatal features of Noonan syndrome

1 reference

12 December 2020

Feeding difficulties and foregut dysmotility in Noonan's syndrome

1 reference

12 December 2020

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

1 reference

12 December 2020

Life-threatening cardiac involvement throughout life in a case of Costello syndrome

1 reference

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The product of ras is a GTPase and the T24 oncogenic mutant is deficient in this activity.

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12 December 2020

A clinical study of Noonan syndrome

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Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients

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The cardiofaciocutaneous syndrome

1 reference

12 December 2020

Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

1 reference

12 December 2020

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

1 reference

12 December 2020

Prenatal findings in a monozygotic twin pregnancy with Costello syndrome.

1 reference

12 December 2020

Costello syndrome: report of a new case with choanal atresia and fatal outcome.

1 reference

12 December 2020

Tumor predisposition in Costello syndrome

1 reference

12 December 2020

PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

1 reference

12 December 2020

Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology

1 reference

12 December 2020

Germline mutations in HRAS proto-oncogene cause Costello syndrome

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12 December 2020

CFC syndrome: a syndrome distinct from Noonan syndrome.

1 reference

12 December 2020

Clinical manifestations of Noonan syndrome

1 reference

12 December 2020

Further delineation of cardiac abnormalities in Costello syndrome

1 reference

12 December 2020

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

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12 December 2020

Paternal bias in parental origin of HRAS mutations in Costello syndrome

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12 December 2020

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12 December 2020

The heart in lentiginosis

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12 December 2020

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12 December 2020

Costello syndrome and facio-cutaneous-skeletal syndrome

1 reference

12 December 2020

Costello syndrome: report of an 8-month-old marasmic boy.

1 reference

12 December 2020

Noonan syndrome: a review

1 reference

12 December 2020

Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography

1 reference

12 December 2020

Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)

1 reference

12 December 2020

Facio-cutaneous-skeletal syndrome is the Costello syndrome.

1 reference

12 December 2020

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

1 reference

12 December 2020

Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules

1 reference

12 December 2020