(Q35477813)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

title

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? (English)

1 reference

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11 March 2020

1

1 reference

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11 March 2020

author name string

Béatrice Parfait

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Armelle Luscan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Philippe Goussard

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Audrey Briand-Suleau

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Ingrid Laurendeau

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Corinne Fouveaut

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Chrystel Leroy

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Annelore Montadert

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Pierre Wolkenstein

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Michel Vidaud

11

1 reference

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11 March 2020

Dominique Vidaud

12

1 reference

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11 March 2020

publication date

30 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

11 March 2020

published in

1 reference

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11 March 2020

volume

23

1 reference

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11 March 2020

issue

5

1 reference

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11 March 2020

page(s)

596-601

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

Mutational landscape and significance across 12 major cancer types

11 March 2020

cites work

1 reference

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Emerging landscape of oncogenic signatures across human cancers

27 July 2018

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A genomic view of mosaicism and human disease

27 July 2018

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An unholy alliance: cooperation between BRAF and NF1 in melanoma development and BRAF inhibitor resistance

27 July 2018

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A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Elucidating distinct roles for NF1 in melanomagenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Neurofibromatosis type 1: from genotype to phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Review and update of SPRED1 mutations causing Legius syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

A highly sensitive genetic protocol to detect NF1 mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

A standardized framework for the validation and verification of clinical molecular genetic tests

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Elevated risk for MPNST in NF1 microdeletion patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

The genetic aspects of neurofibromatosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Performance comparison of benchtop high-throughput sequencing platforms

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Association between benign and malignant peripheral nerve sheath tumors in NF1.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402624

Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.145

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.145

Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.145

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations

21 January 2018

1 reference

12 December 2020

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

1 reference

12 December 2020

Expression of NF1 pseudogenes

1 reference

12 December 2020

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2014.145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

PubMed publication ID

25074460

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25074460%20AND%20SRC:MED&resulttype=core&format=json