(Q42749590)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21340158%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21340158%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

4

1 reference

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23 January 2020

José Eduardo Krieger

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21340158%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Amanda Salem Brasil

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21340158%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Alexander A L Jorge

6

1 reference

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23 January 2020

Débora R Bertola

8

1 reference

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23 January 2020

author name string

Alexsandra C Malaquias

2

1 reference

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23 January 2020

Luciana Turolla Wanderley

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21340158%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Alexandre C Pereira

7

1 reference

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23 January 2020

publication date

1 November 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21340158%20AND%20SRC:MED&resulttype=core&format=json

Arquivos Brasileiros de Endocrinologia e Metabologia

23 January 2020

published in

1 reference

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23 January 2020

volume

54

1 reference

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23 January 2020

issue

8

1 reference

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23 January 2020

page(s)

717-722

1 reference

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

23 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

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/10.1590%2FS0004-27302010000800009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

Genotype-phenotype correlations in Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

21 January 2018

1 reference

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Noonan syndrome: clinical aspects and molecular pathogenesis

21 January 2018

1 reference

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

21 January 2018

1 reference

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PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

Human non-synonymous SNPs: server and survey

21 January 2018

1 reference

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VISTA: computational tools for comparative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

Visual function in Noonan and LEOPARD syndrome.

21 January 2018

1 reference

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Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. I

21 January 2018

1 reference

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Noonan syndrome: growth and clinical manifestations in 144 cases

21 January 2018

1 reference

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PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000800009