(Q54611405)

1 June 2018

review article

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title

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review. (English)

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1 June 2018

4

Eva Klein-Zighelboim

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1 June 2018

Karen Gripp

7

object named as

Karen W Gripp

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1 June 2018

author name string

Eleftheria Papadopoulou

1

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1 June 2018

Stavros Sifakis

2

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1 June 2018

Katia Sol-Church

3

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1 June 2018

Deborah L Stabley

5

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1 June 2018

Maria Raissaki

6

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1 June 2018

Maria Kalmanti

8

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1 June 2018

language of work or name

English

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publication date

18 February 2011

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1 June 2018

American Journal of Medical Genetics

published in

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1 June 2018

volume

155A

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1 June 2018

issue

3

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1 June 2018

page(s)

605-611

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1 June 2018

Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Control of CNS cell-fate decisions by SHP-2 and its dysregulation in Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

The CFC syndrome--report of the first two cases outside the United States.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

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/10.1002%2FAJMG.A.33787

The cardiofaciocutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

The cardio-facio-cutaneous syndrome: a long-term follow-up of two patients, with special reference to the neurological features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Cardio-facio-cutaneous syndrome: three additional cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Cardiofaciocutaneous syndrome with new ectodermal manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Intracranial lipomas: importance of localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

Neurological complications of cardio-facio-cutaneous syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33787

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33787

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1 June 2018

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1 June 2018