(Q37102118)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23321623%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23321623%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

0 references

1 reference

7

1 reference

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22 February 2020

Hans Scheffer

11

1 reference

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22 February 2020

14

Helger G Yntema

1 reference

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22 February 2020

author name string

Ellen A Croonen

1

1 reference

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22 February 2020

Willy M Nillesen

2

1 reference

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22 February 2020

Kyra E Stuurman

3

1 reference

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22 February 2020

Gretel Oudesluijs

4

1 reference

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22 February 2020

Ingrid M B M van de Laar

5

1 reference

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22 February 2020

Liesbeth Martens

6

1 reference

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22 February 2020

Inge B Mathijssen

8

1 reference

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22 February 2020

Marga Schepens

9

1 reference

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22 February 2020

Martina Ruiterkamp-Versteeg

10

1 reference

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22 February 2020

Brigitte H W Faas

12

1 reference

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22 February 2020

Ineke van der Burgt

13

1 reference

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22 February 2020

publication date

16 January 2013

1 reference

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European Journal of Human Genetics

22 February 2020

published in

1 reference

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22 February 2020

volume

21

1 reference

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22 February 2020

issue

9

1 reference

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22 February 2020

page(s)

936-942

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23321623%20AND%20SRC:MED&resulttype=core&format=json

Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

22 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Noonan syndrome and clinically related disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Whole genome amplification in preimplantation genetic diagnosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

A restricted spectrum of NRAS mutations causes Noonan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

The cardiofaciocutaneous syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Germline KRAS mutations cause Noonan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Costello syndrome: an overview

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Poor prenatal detection rate of cardiac anomalies in Noonan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Prenatal features of Noonan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

A clinical study of Noonan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Noonan syndrome. An update and review for the primary pediatrician

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Prenatal features of Noonan syndrome: prevalence and prognostic value.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Prenatal findings in a monozygotic twin pregnancy with Costello syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Noonan syndrome: a cryptic condition in early gestation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746261

Cardiac findings in 31 patients with Noonan's syndrome

3 September 2018

1 reference

PubMed

12 December 2020

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

Persistence of nuchal edema and distended jugular lymphatic sacs in Noonan syndrome

1 reference

PubMed

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.285

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23321623%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23321623%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

23321623

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23321623%20AND%20SRC:MED&resulttype=core&format=json