(Q34765796)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

main subject

xeroderma pigmentosum

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Dora Janeth Fonseca

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Carlos M. Restrepo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Paul Laissue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Jéssica Inés Vergara

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Xiomara Ríos

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Hernando Mosquera

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Olga María Bermúdez

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Claudia Liliana Medina

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Clara Inés Vargas

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Argemiro Enrique Pallares

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

language of work or name

English

0 references

publication date

3 June 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

page(s)

e64692

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

2 March 2020

copyright license

start time

3 June 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Next generation sequencing in cancer research and clinical application

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Confidence-based somatic mutation evaluation and prioritization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Shining a light on xeroderma pigmentosum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

7 July 2018

Xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Exome sequencing as a tool for Mendelian disease gene discovery

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Targeted capture and massively parallel sequencing of 12 human exomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Neurological symptoms and natural course of xeroderma pigmentosum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Xeroderma pigmentosum-variant patients from America, Europe, and Asia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Nucleotide excision repair and cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Molecular genetics of Xeroderma pigmentosum variant.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Structure-based interpretation of missense mutations in Y-family DNA polymerases and their implications for polymerase function and lesion bypass

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Crystal structure of a Y-family DNA polymerase in action: a mechanism for error-prone and lesion-bypass replication

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

The Y-family of DNA polymerases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Domain structure, localization, and function of DNA polymerase eta, defective in xeroderma pigmentosum variant cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

hRAD30 mutations in the variant form of xeroderma pigmentosum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Impaired translesion synthesis in xeroderma pigmentosum variant extracts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3670841

Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0064692

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0064692

Molecular Analysis of DNA Polymerase Eta Gene in Japanese Patients Diagnosed as Xeroderma Pigmentosum Variant Type

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23755135

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0064692

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

PubMed publication ID

23755135

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23755135%20AND%20SRC:MED&resulttype=core&format=json