(Q30489944)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

genotype-phenotype correlation

16 January 2020

main subject

1 reference

1 reference

1 reference

Annachiara De Sandre-Giovannoli

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Graeme Black

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Hélène Cavé

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Didier Lacombe

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Nicolas Levy

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

21

A Verloes

1 reference

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16 January 2020

author name string

B Kerr

1

1 reference

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16 January 2020

M-A Delrue

2

1 reference

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16 January 2020

S Sigaudy

3

1 reference

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16 January 2020

R Perveen

4

1 reference

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16 January 2020

M Marche

5

1 reference

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16 January 2020

I Burgelin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

M Stef

7

1 reference

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16 January 2020

B Tang

8

1 reference

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16 January 2020

O B Eden

9

1 reference

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16 January 2020

J O'Sullivan

10

1 reference

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16 January 2020

W Reardon

12

1 reference

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16 January 2020

C Brewer

13

1 reference

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16 January 2020

C Bennett

14

1 reference

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16 January 2020

O Quarell

15

1 reference

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16 January 2020

E M'Cann

16

1 reference

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16 January 2020

D Donnai

17

1 reference

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16 January 2020

F Stewart

18

1 reference

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16 January 2020

R Hennekam

19

1 reference

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16 January 2020

N Philip

22

1 reference

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16 January 2020

B Arveiler

25

1 reference

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16 January 2020

language of work or name

English

0 references

publication date

27 January 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

16 January 2020

published in

1 reference

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16 January 2020

volume

43

1 reference

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16 January 2020

issue

5

1 reference

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16 January 2020

page(s)

401-405

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

Germline mutations in HRAS proto-oncogene cause Costello syndrome

16 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Further delineation of cardiac abnormalities in Costello syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Costello syndrome: two cases with embryonal rhabdomyosarcoma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Genetics of the Costello syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

A new syndrome: mental subnormality and nasal papillomata

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

The adult phenotype in Costello syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Costello syndrome and neurological abnormalities

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564514

Recurrent transitional cell carcinoma in a child with the Costello syndrome

26 November 2018

1 reference

12 December 2020

Hungarian case with Costello syndrome and translocation t(1,22)

1 reference

12 December 2020

Costello syndrome with acoustic neuroma and cataract. Is the Costello locus linked to neurofibromatosis type 2 on 22q?

1 reference

12 December 2020

Second case of bladder carcinoma in a patient with Costello syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.040352

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16443854%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

16443854

1 reference