(Q43232432)

16 November 2017

0 references

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

1 reference

16 November 2017

24

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13

Stefan Mundlos

1 reference

16 November 2017

1

Martin Zenker

1 reference

16 November 2017

25

Kerstin Kutsche

1 reference

16 November 2017

15

Anita Rauch

1 reference

16 November 2017

2

Denise Horn

1 reference

16 November 2017

Dagmar Wieczorek

3

1 reference

16 November 2017

Judith Allanson

4

1 reference

16 November 2017

Silke Pauli

5

1 reference

16 November 2017

Ineke van der Burgt

6

1 reference

16 November 2017

Helmuth-Guenther Doerr

7

1 reference

16 November 2017

Harald Gaspar

8

1 reference

16 November 2017

Michael Hofbeck

9

1 reference

16 November 2017

Gabriele Gillessen-Kaesbach

10

1 reference

16 November 2017

Andreas Koch

11

1 reference

16 November 2017

Peter Meinecke

12

1 reference

16 November 2017

Anja Nowka

14

1 reference

16 November 2017

Silke Reif

16

1 reference

16 November 2017

Christian von Schnakenburg

17

1 reference

16 November 2017

Heide Seidel

18

1 reference

16 November 2017

Lars-Erik Wehner

19

1 reference

16 November 2017

Christiane Zweier

20

1 reference

16 November 2017

Susanne Bauhuber

21

1 reference

16 November 2017

Verena Matejas

22

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16 November 2017

Christian P Kratz

23

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16 November 2017

language of work or name

English

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publication date

23 June 2007

1 reference

Journal of Medical Genetics

16 November 2017

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16 November 2017

44

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16 November 2017

10

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16 November 2017

651-656

1 reference

describes a project that uses

16 November 2017

PyMOL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&rettype=xml&id=PMC2597961

cites work

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=2597961

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Stops along the RAS pathway in human genetic disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Germline KRAS mutations cause Noonan syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Computational docking and solution x-ray scattering predict a membrane-interacting role for the histone domain of the Ras activator son of sevenless

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Germline mutations in HRAS proto-oncogene cause Costello syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Structural analysis of autoinhibition in the Ras activator Son of sevenless

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Genotype-phenotype correlations in Noonan syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Costello syndrome: an overview

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

CFC index for the diagnosis of cardiofaciocutaneous syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

The structural basis of the activation of Ras by Sos

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Regulation of Sos activity by intramolecular interactions

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Structure-based mutagenesis reveals distinct functions for Ras switch 1 and switch 2 in Sos-catalyzed guanine nucleotide exchange

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597961

1 December 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/17586837

12 December 2020

inferred from PubMed ID database lookup

Clinical and molecular studies in a large Dutch family with Noonan syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17586837

12 December 2020

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/17586837

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.2007.051276

1 reference

release_3mptgkogiveg5ic7bbz5vexdd4

16 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3mptgkogiveg5ic7bbz5vexdd4

24 November 2022

mapped directly with Wikidata item

1 reference

16 November 2017

PubMed publication ID

17586837

1 reference