(Q37004824)

17 August 2017

0 references

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations (English)

1 reference

17 August 2017

0 references

Stefan Mundlos

1 reference

17 August 2017

Rudolf Korinthenberg

0 references

Martin Zenker

1 reference

17 August 2017

Kerstin Kutsche

1 reference

17 August 2017

Denise Horn

1 reference

17 August 2017

Katarina Lehmann

1 reference

17 August 2017

Anna Leana Schulz

1 reference

17 August 2017

Helmut Barth

1 reference

17 August 2017

Dagmar Hansmann

1 reference

17 August 2017

Rainer Koenig

1 reference

17 August 2017

Martina Kreiss-Nachtsheim

1 reference

17 August 2017

Peter Meinecke

1 reference

17 August 2017

Susanne Morlot

1 reference

17 August 2017

Anne S Quante

1 reference

17 August 2017

Salmo Raskin

1 reference

17 August 2017

Dirk Schnabel

1 reference

17 August 2017

Lars-Erik Wehner

1 reference

17 August 2017

Christian P Kratz

1 reference

17 August 2017

language of work or name

English

0 references

publication date

20 October 2006

1 reference

Journal of Medical Genetics

17 August 2017

1 reference

17 August 2017

1 reference

17 August 2017

1 reference

17 August 2017

131-135

1 reference

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

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

The cardiofaciocutaneous syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Stops along the RAS pathway in human genetic disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Germline KRAS mutations cause Noonan syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Germline mutations in HRAS proto-oncogene cause Costello syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Tumor predisposition in Costello syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Genotype-phenotype correlations in Noonan syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Ras-effector interactions: after one decade

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Costello syndrome: an overview

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

CFC index for the diagnosis of cardiofaciocutaneous syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

The guanine nucleotide-binding switch in three dimensions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Probing the role of loop 2 in Ras function with unnatural amino acids

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Biological and structural characterization of a Ras transforming mutation at the phenylalanine-156 residue, which is conserved in all members of the Ras superfamily

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

ras oncogenes in human cancer: a review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

BRAF and KRAS mutations in stomach cancer

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

Concurrent mutations of K-ras oncogene at codons 12 and 22 in colon cancer

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598066

4 September 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/17056636

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17056636

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17056636

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.046300

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

17056636

1 reference