(Q79886954)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835863%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

Paternal bias in parental origin of HRAS mutations in Costello syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835863%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference

5

Karen W Gripp

1 reference

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26 December 2019

author name string

Katia Sol-Church

1

1 reference

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26 December 2019

Deborah L Stabley

2

1 reference

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26 December 2019

Linda Nicholson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835863%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Iris L Gonzalez

4

1 reference

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26 December 2019

publication date

1 August 2006

1 reference

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26 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835863%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

27

1 reference

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26 December 2019

issue

8

1 reference

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26 December 2019

page(s)

736-741

1 reference

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Germline mutations in HRAS proto-oncogene cause Costello syndrome

26 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

The extracellular signal-regulated kinase (ERK) pathway is involved in human sperm function and modulated by the superoxide anion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Costello syndrome: an overview

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Is the locus for Costello syndrome on 11p?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Recombination hotspot in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Genetics of the Costello syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Exclusive paternal origin of new mutations in Apert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

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.20381

7 January 2021

Genetic analysis of H-ras intron-1 polymorphic and variable tandem repeat regions in human breast cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Parental age and mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

p53 mutational spectra and the role of methylated CpG sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20381

7 January 2021

Identifiers

DOI

10.1002/HUMU.20381

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835863%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference