(Q51914051)

17 April 2018

title

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

1 reference

17 April 2018

cardiofaciocutaneous syndrome

main subject

1 reference

1 reference

Elizabeth I Pierpont

1

1 reference

17 April 2018

Mary Ella Pierpont

2

1 reference

17 April 2018

Nancy J Mendelsohn

3

1 reference

17 April 2018

Amy E Roberts

4

1 reference

17 April 2018

Erica Tworog-Dube

5

1 reference

17 April 2018

Katherine A Rauen

6

1 reference

17 April 2018

Mark S Seidenberg

7

1 reference

17 April 2018

language of work or name

English

0 references

publication date

1 March 2010

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17 April 2018

American Journal of Medical Genetics

published in

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17 April 2018

volume

152A

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17 April 2018

issue

3

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17 April 2018

page(s)

591-600

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17 April 2018

The language phenotype of children and adolescents with Noonan syndrome

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Genotype differences in cognitive functioning in Noonan syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Deregulated Ras signaling in developmental disorders: new tricks for an old dog.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Germline KRAS mutations cause Noonan syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

CFC index for the diagnosis of cardiofaciocutaneous syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

The construct and predictive validity of adaptive behavior.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Neurological complications of cardio-facio-cutaneous syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Longitudinal assessment of cognitive characteristics in Costello syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Psychological profile of children with Noonan syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Neuropsychological developmental change in a case with Noonan syndrome: longitudinal assessment.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Adaptive behavior of 4- through 8-year-old children with Williams syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085983

Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression

13 August 2018

1 reference

12 December 2020

Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders

1 reference

12 December 2020

Noonan syndrome: psychological and psychiatric aspects

1 reference

12 December 2020

The Impact of Maternal Perceptions and Medical Severity on the Adjustment of Children with Congenital Heart Disease

1 reference

12 December 2020

A MONTE CARLO COMPARISON OF THE UNIVARIATE AND MULTIVARIATE METHODS FOR THE GROUPS BY TRIALS REPEATED MEASURES DESIGN

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33268

1 reference

17 April 2018

PMCID

3085983

1 reference

17 April 2018

PubMed ID

20186801

1 reference

17 April 2018