Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. (Q51904205)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

José Eduardo Krieger

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Débora R Bertola

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Amanda Salem Brasil

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Alexandre Costa Pereira

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Lilian Maria José Albano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

publication date

28 April 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

30 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

521-526

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17468812%20AND%20SRC:MED&resulttype=core&format=json

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

30 December 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0146-1

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0146-1

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0146-1

Germline KRAS mutations cause Noonan syndrome

21 January 2018

1 reference

12 December 2020

Genetics of the Costello syndrome

1 reference

12 December 2020

Costello syndrome: update on the original cases and commentary

1 reference

12 December 2020

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

1 reference

12 December 2020

PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

1 reference

12 December 2020

Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The Noonan-CFC controversy

1 reference

12 December 2020

Noonan syndrome: a review

1 reference

12 December 2020

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

1 reference

12 December 2020

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020