(Q27648947)

12

0 references

Annabel Parret

Annabel Parret

2

0 references

Jan Cools

Jan Cools

11

0 references

Magdalena Chmara

3

Magdalena Chmara

0 references

Thomy de Ravel

9

Thomy J de Ravel

1 reference

ORCID Public Data File 2021

author name string

Ellen Denayer

1

0 references

Suzanne Schubbert

4

0 references

Annick Vogels

5

0 references

Jean-Pierre Frijns

7

0 references

Vladimir Rybin

8

0 references

Kevin Shannon

10

0 references

Eric Legius

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

13

0 references

publication date

February 2008

0 references

published in

Human Mutation

0 references

volume

29

0 references

issue

2

0 references

page(s)

232-9

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

Tumor predisposition in Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

Germline mutations in HRAS proto-oncogene cause Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Differential regulation of rasGAP and neurofibromatosis gene product activities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Intrinsic and GTPase-activating protein-stimulated Ras GTPase assays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

An unusual H-Ras mutant isolated from a human multiple myeloma line leads to transformation and factor-independent cell growth

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Coot: model-building tools for molecular graphics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Costello syndrome: an overview

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Automatic processing of rotation diffraction data from crystals of initially unknown symmetry and cell constants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Coordinating ERK/MAPK signalling through scaffolds and inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Likelihood-enhanced fast translation functions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Refinement of macromolecular structures by the maximum-likelihood method

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

The P34G mutation reduces the transforming activity of K-Ras and N-Ras in NIH 3T3 cells but not of H-Ras.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Refined crystal structure of the triphosphate conformation of H-ras p21 at 1.35 A resolution: implications for the mechanism of GTP hydrolysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

Germline KRAS mutations cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

The oncogenic activation of human p21ras by a novel mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20616

7 January 2021