(Q36870643)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611774%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

review article

1 reference

title

What's new in the neuro-cardio-facial-cutaneous syndromes? (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611774%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611774%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Ellen Denayer

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611774%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

5 July 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611774%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

1 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611774%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611774%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611774%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

1091-1098

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611774%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00431-007-0535-7

1 January 2020

exact match

0 references

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

21 January 2018

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Genetic analysis is consistent with the hypothesis that NF1 limits myeloid cell growth through p21ras

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

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Transforming genes of human bladder and lung carcinoma cell lines are homologous to the ras genes of Harvey and Kirsten sarcoma viruses

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12 December 2020

Genotype-phenotype correlations in Noonan syndrome

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

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12 December 2020

A mouse model for the learning and memory deficits associated with neurofibromatosis type I

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12 December 2020

The cardiofaciocutaneous syndrome

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12 December 2020

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

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12 December 2020

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NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

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12 December 2020

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

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12 December 2020

Further delineation of cardiac abnormalities in Costello syndrome

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12 December 2020

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12 December 2020

K-ras is an essential gene in the mouse with partial functional overlap with N-ras

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12 December 2020

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation

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12 December 2020

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

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12 December 2020

Deregulated Ras signaling in developmental disorders: new tricks for an old dog.

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12 December 2020

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

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12 December 2020

Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons

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12 December 2020

A neurofibromatosis-1-regulated pathway is required for learning in Drosophila

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12 December 2020

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

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12 December 2020

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

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12 December 2020