Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. (Q30489944)

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16 January 2020

title

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

1 reference

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genotype-phenotype correlation

16 January 2020

main subject

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1 reference

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Annachiara De Sandre-Giovannoli

11

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Graeme Black

26

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Hélène Cavé

20

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Didier Lacombe

23

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Nicolas Levy

24

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A Verloes

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author name string

B Kerr

1

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M-A Delrue

2

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S Sigaudy

3

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R Perveen

4

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M Marche

5

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I Burgelin

6

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M Stef

7

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B Tang

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O B Eden

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J O'Sullivan

10

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W Reardon

12

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C Brewer

13

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C Bennett

14

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O Quarell

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E M'Cann

16

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D Donnai

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F Stewart

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R Hennekam

19

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N Philip

22

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B Arveiler

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language of work or name

English

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publication date

27 January 2006

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Journal of Medical Genetics

16 January 2020

published in

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volume

43

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issue

5

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page(s)

401-405

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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

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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

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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

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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

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16 January 2020

PubMed publication ID

16443854

1 reference