(Q30445003)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

main subject

xeroderma pigmentosum

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Kenneth H Kraemer

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Mariam B Totonchy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Deborah Tamura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Matthew S Pantell

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Christopher Zalewski

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Porcia T Bradford

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Saumil N Merchant

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Joseph Nadol

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Raphael Schiffmann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Tyler Mark Pierson

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Edythe Wiggs

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Andrew J Griffith

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

John J DiGiovanna

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Carmen C Brewer

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

language of work or name

English

0 references

publication date

1 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

136

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

issue

Pt 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

page(s)

194-208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

Shining a light on xeroderma pigmentosum

23 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=3562077

Ocular manifestations of trichothiodystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Neurological symptoms and natural course of xeroderma pigmentosum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Auditory research involving antioxidants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Cockayne syndrome in adults: review with clinical and pathologic study of a new case

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Oxidative imbalance in the aging inner ear.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Mutation in mitochondrial DNA as a cause of presbyacusis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Molecular mechanisms of age-related hearing loss

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Adult-onset xeroderma pigmentosum neurological disease--observations in an autopsy case.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Modulation of presbycusis: current status and future directions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Controlling the efficiency of excision repair

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Xeroderma pigmentosum--bridging a gap between clinic and laboratory.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Cockayne syndrome and xeroderma pigmentosum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Vestibular findings and brainstem pathology in two siblings with Cockayne's syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Neuro-otological abnormalities in xeroderma pigmentosum with particular reference to deafness.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Delayed sensorineural deafness and skin carcinogenesis in a Japanese xeroderma pigmentosum group D patient.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Acoustic reflex thresholds in normal and cochlear-impaired ears: effects of no-response rates on 90th percentiles in a large sample.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

DNA Repair Processes Protect Human Beings from Premature Solar Skin Damage: Evidence from Studies on Xeroderma Pigmentosum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Accelerated loss of hearing and vision in the DNA-repair deficient Ercc1(δ/-) mouse.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Cerebellar and cerebral atrophy in trichothiodystrophy.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Chronological changes of auditory brainstem responses in Cockayne's syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3562077

Screening tympanometry: criteria for medical referral

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23365097

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWS317

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365097%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

23365097

1 reference