(Q58881420)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331583%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation (English)

1 reference

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21 February 2020

2

1 reference

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21 February 2020

C Rossi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331583%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Marco Tartaglia

5

1 reference

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Giovanni Battista Ferrero

21 February 2020

7

1 reference

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21 February 2020

author name string

Giuseppina Baldassarre

1

1 reference

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21 February 2020

Elena Banaudi

3

1 reference

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21 February 2020

Margherita Silengo

6

1 reference

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21 February 2020

language of work or name

English

0 references

publication date

20 October 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331583%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

21 February 2020

published in

1 reference

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21 February 2020

volume

164A

1 reference

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21 February 2020

issue

12

1 reference

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21 February 2020

page(s)

3120-3125

1 reference

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

21 February 2020

cites work

1 reference

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Prenatal features of Noonan syndrome: prevalence and prognostic value.

21 January 2018

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Comment on "prenatal diagnosis and prognosis in Noonan syndrome".

21 January 2018

1 reference

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Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

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.36697

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

21 January 2018

1 reference

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RASopathies: Clinical Diagnosis in the First Year of Life

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

Hydrops fetalis in a preterm newborn heterozygous for the c.4A>GSHOC2mutation

21 January 2018

1 reference

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Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

21 January 2018

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Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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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.36697

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

Clinical and molecular analysis of RASopathies in a group of Turkish patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

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.36697

Noonan syndrome and clinically related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

Noonan syndrome: clinical aspects and molecular pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

Clinical manifestations of mutations in RAS and related intracellular signal transduction factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

Coarctation of the aorta in Noonan-like syndrome with loose anagen hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36697

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36697

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331583%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference