(Q40290712)

19 September 2017

Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation (English)

1 reference

19 September 2017

6

1 reference

19 September 2017

Shay Ben-Shachar

1

1 reference

19 September 2017

Shlomi Constantini

2

1 reference

19 September 2017

Hen Hallevi

3

1 reference

19 September 2017

Emma K Sach

4

1 reference

19 September 2017

Meena Upadhyaya

5

1 reference

19 September 2017

Susan M Huson

7

1 reference

19 September 2017

10 October 2012

1 reference

European Journal of Human Genetics

19 September 2017

1 reference

19 September 2017

21

1 reference

19 September 2017

5

1 reference

19 September 2017

535-539

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.221

19 September 2017

0 references

cites work

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Legius syndrome in fourteen families.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Spred1, a negative regulator of Ras-MAPK-ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Functional annotations improve the predictive score of human disease-related mutations in proteins

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Tumor microenvironment and neurofibromatosis type I: connecting the GAPs

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Pulmonary stenosis, cafe-au-lait spots, and dull intelligence

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS)

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service

20 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.221

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.221

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641387

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

4 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.221

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23047742

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23047742

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in theNF1 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23047742

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.221

1 reference

Dimensions Publication ID

19 September 2017

0 references

1 reference

19 September 2017

1 reference