(Q37121001)

English

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17704260%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17704260%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

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inferred from title

2

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3 January 2020

Caroline Michot

3

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Europe PubMed Central

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3 January 2020

10

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3 January 2020

11

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3 January 2020

16

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3 January 2020

17

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3 January 2020

21

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3 January 2020

Delphine Héron

14

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Delphine Héron

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3 January 2020

Clarisse Baumann

13

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Clarisse Baumann

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3 January 2020

20

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Alain Verloes

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3 January 2020

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Caroline Nava

1

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3 January 2020

Sabrina Pereira

4

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3 January 2020

Nathalie Pouvreau

5

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3 January 2020

Tetsuya Niihori

6

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3 January 2020

Yoko Aoki

7

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Europe PubMed Central

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3 January 2020

Yoichi Matsubara

8

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Europe PubMed Central

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3 January 2020

Benoit Arveiler

9

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Europe PubMed Central

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3 January 2020

Béatrice Parfait

12

1 reference

Europe PubMed Central

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3 January 2020

Sabine Sigaudy

15

1 reference

Europe PubMed Central

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3 January 2020

Alice Goldenberg

18

1 reference

Europe PubMed Central

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3 January 2020

Bruno Leheup

19

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3 January 2020

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17 August 2007

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3 January 2020

Journal of Medical Genetics

1 reference

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3 January 2020

44

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3 January 2020

12

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Europe PubMed Central

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3 January 2020

763-771

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17704260%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

The cardiofaciocutaneous syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

Germline KRAS mutations cause Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

CFC index for the diagnosis of cardiofaciocutaneous syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

14 September 2017

Cardio‐facio‐cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

27 June 2018

CFC syndrome: a syndrome distinct from Noonan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

27 June 2018

Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

3 September 2018

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652823

20 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/17704260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17704260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17704260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17704260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2007.050450

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17704260%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

PMC publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17704260%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17704260%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

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