(Q37004691)

17 August 2017

0 references

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features (English)

1 reference

17 August 2017

1 reference

7

Pål R Njølstad

1 reference

17 August 2017

9

Anders Molven

1 reference

17 August 2017

1

Oddmund Søvik

1 reference

17 August 2017

Suzanne Schubbert

2

1 reference

17 August 2017

Gunnar Houge

3

1 reference

17 August 2017

Solrun J Steine

4

1 reference

17 August 2017

Gunnar Norgård

5

1 reference

17 August 2017

Bernt Engelsen

6

1 reference

17 August 2017

Kevin Shannon

8

1 reference

17 August 2017

language of work or name

English

0 references

publication date

1 July 2007

1 reference

Journal of Medical Genetics

17 August 2017

1 reference

17 August 2017

44

1 reference

17 August 2017

7

1 reference

17 August 2017

e84

1 reference

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

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

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=2598016

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=2598016

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=2598016

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=2598016

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=2598016

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-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=2598016

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=2598016

Noonan syndrome and related disorders: genetics and pathogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

Reversible intracellular translocation of KRas but not HRas in hippocampal neurons regulated by Ca2+/calmodulin.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations 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=2598016

MAPK cascade signalling and synaptic plasticity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

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=2598016

The origins, patterns and implications of human spontaneous mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

NF1 tumor suppressor gene function: narrowing the GAP

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe 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=2598016

A requirement for the mitogen-activated protein kinase cascade in hippocampal long term potentiation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

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=2598016

Genetics of the 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=2598016

Biochemical characterization of polypeptides encoded by mutated human Ha-ras1 genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

Presence of mutations in all three ras genes in human thyroid tumors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

Biological properties of human c-Ha-ras1 genes mutated at codon 12.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

Gain-of-function SOS1 mutations cause a distinctive form of Noonan 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=2598016

Germline mutations in genes within the MAPK pathway cause 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=2598016

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=2598016

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=2598016

PTPN11 mutations in LEOPARD 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=2598016

Protein kinase modulation of dendritic K+ channels in hippocampus involves a mitogen-activated protein kinase pathway.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello 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=2598016

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598016

H-ras oncogene mutation in dedifferentiated chondrosarcoma: polymerase chain reaction-restriction fragment length polymorphism analysis

4 December 2018

1 reference

12 December 2020

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

1 reference

12 December 2020

Costello syndrome: update on the original cases and commentary

1 reference

12 December 2020

Paternal bias in parental origin of HRAS mutations in Costello syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2007.049361

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

17601930

1 reference