(Q58493369)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Viviana Cordeddu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

C Rossi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Marco Tartaglia

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

author name string

Giancarlo Gargano

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Isotta Guidotti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Eleonora Balestri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Federica Vagnarelli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Simonetta Rosato

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Giuseppina Comitini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Anita Wischmeijer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Giovanni Battista La Sala

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Livia Garavelli

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

language of work or name

English

0 references

publication date

23 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

6 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

volume

164A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

1015-1020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

The face of Noonan syndrome: Does phenotype predict genotype.

6 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Prenatal features of Noonan syndrome: prevalence and prognostic value.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

A restricted spectrum of NRAS mutations causes Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

RASopathies: Clinical Diagnosis in the First Year of Life

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Spontaneous resolution of cystic hygroma and hydrops in a fetus with Noonan's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Noonan-like syndrome with loose anagen hair: a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Poor prenatal detection rate of cardiac anomalies in Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Prenatal features of Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Germline KRAS mutations cause Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Noonan syndrome: clinical aspects and molecular pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Noonan syndrome and clinically related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

Genotype-phenotype correlations in Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36376

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36376

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24458587%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference