(Q44279418)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529707%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

title

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529707%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

author name string

Kavamura MI

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529707%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Zollino M

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529707%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Lecce R

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529707%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Murdolo M

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529707%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Brunoni D

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529707%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Alchorne MM

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529707%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Neri G

9

1 reference

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16 December 2019

publication date

1 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529707%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

16 December 2019

published in

1 reference

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16 December 2019

volume

11

1 reference

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16 December 2019

issue

1

1 reference

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16 December 2019

page(s)

64-68

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200911

16 December 2019

exact match

0 references

cites work

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200911

CFC index for the diagnosis of cardiofaciocutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200911

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200911

Crystal structure of the tyrosine phosphatase SHP-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200911

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200911

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200911

The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200911

Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200911

The Noonan-CFC controversy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200911