(Q34439859)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

4

Atsushi Shimizu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

author name string

Ryo Maruoka

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Toshiki Takenouchi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Chiharu Torii

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Kumiko Misu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Koichiro Higasa

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Fumihiko Matsuda

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Arihito Ota

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Katsumi Tanito

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Akira Kuramochi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Yoshimi Arima

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Fujio Otsuka

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Yuichi Yoshida

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Keiji Moriyama

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Michihito Niimura

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Kenjiro Kosaki

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

publication date

17 October 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

Genetic Testing and Molecular Biomarkers

21 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

page(s)

722-735

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

Performance comparison of four exome capture systems for deep sequencing

21 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Next-generation sequencing in genetic hearing loss

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Assessing the enrichment performance in targeted resequencing experiments

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

A highly sensitive genetic protocol to detect NF1 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

MutationTaster evaluates disease-causing potential of sequence alterations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Identification of deleterious mutations within three human genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

DHPLC in clinical molecular diagnostic services

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Primer3 on the WWW for general users and for biologist programmers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

The human gene mutation database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Somatic mutations in the neurofibromatosis 1 gene in human tumors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Multiple café au lait spots in familial patients with MAP2K2 mutation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

NF1 mutation analysis using a combined heteroduplex/SSCP approach.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216997

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

27 October 2018

1 reference

12 December 2020

Identification of forty-five novel and twenty-three knownNF1 mutations in Chinese patients with neurofibromatosis type 1

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1

1 reference

12 December 2020

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms

1 reference

12 December 2020

Identifiers

DOI

10.1089/GTMB.2014.0109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25325900%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

PubMed publication ID

25325900

1 reference