(Q36986273)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

main subject

xeroderma pigmentosum

1 reference

2

1 reference

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29 February 2020

Sikandar G Khan

9

1 reference

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29 February 2020

Kenneth H Kraemer

20

1 reference

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29 February 2020

author name string

Brian P Brooks

1

1 reference

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29 February 2020

Rachel J Bishop

3

1 reference

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29 February 2020

Janine A Clayton

4

1 reference

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29 February 2020

Ekaterini T Tsilou

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Wadih M Zein

7

1 reference

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29 February 2020

Deborah Tamura

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Takahiro Ueda

10

1 reference

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29 February 2020

Jennifer Boyle

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kyu-Seon Oh

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kyoko Imoto

13

1 reference

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29 February 2020

Hiroki Inui

14

1 reference

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29 February 2020

Shin-Ichi Moriwaki

15

1 reference

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29 February 2020

Steffen Emmert

16

1 reference

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29 February 2020

Nicholas T Iliff

17

1 reference

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29 February 2020

Porcia Bradford

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

John J Digiovanna

19

1 reference

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29 February 2020

Chi-Chao Chan

5

1 reference

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29 February 2020

publication date

16 April 2013

1 reference

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29 February 2020

1 reference

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29 February 2020

volume

120

1 reference

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29 February 2020

issue

7

1 reference

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29 February 2020

page(s)

1324-1336

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json

Ocular manifestations of trichothiodystrophy

29 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=3702678

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Ultraviolet radiation and the anterior eye.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Skin cancers, blindness, and anterior tongue mass in African brothers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Neurological symptoms and natural course of xeroderma pigmentosum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

The incidence of consanguineous matings in Japan, with remarks on the estimation of comparative gene frequencies and the expected rate of appearance of induced recessive mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

The effects on human health from stratospheric ozone depletion and its interactions with climate change.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Age, stability of the precorneal tear film and the refractive index of tears

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Grading Of Corneal and Conjunctival Staining in the Context of Other Dry Eye Tests

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Reassessment of the corneal endothelial cell organisation in children

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Geometrical assessment of ocular exposure to environmental UV radiation--implications for ophthalmic epidemiology.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Central corneal pachymetry in patients undergoing laser in situ keratomileusis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Xeroderma pigmentosum in black South Africans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Ultraviolet-B induced hyperplasia and squamous cell carcinomas in the cornea of XPA-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

The epidemiology of dry eye in Melbourne, Australia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Oculocutaneous manifestations in xeroderma pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Effect of age on the endothelial cell count in the normal eye.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Radiation and the ageing eye.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Ultraviolet radiation and the eye: an epidemiologic study.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Premalignant melanosis of the conjunctiva and the cornea in xeroderma pigmentosum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Significance of repair of human DNA: evidence from studies of xeroderma pigmentosum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Ocular manifestations of xeroderma pigmentosum at a tertiary eye care center in Saudi Arabia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Cytologic evidence of corneal diseases with limbal stem cell deficiency.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Xeroderma pigmentosum--Cockayne syndrome complex: a further case

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Age- and gender-related tear function changes in normal population.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Protective role of corneal epithelium against ultraviolet radiation damage

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

Ocular involvement in xeroderma pigmentosum.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3702678

The Lacrimal Secretory System and its Treatment

4 September 2018

1 reference

12 December 2020

Xeroderma pigmentosum complementation group G--report of two cases

1 reference

12 December 2020

Xeroderma pigmentosum

1 reference

12 December 2020

The confounding influence of sun exposure in melanoma

1 reference

12 December 2020

Corneal thickness in children

1 reference

12 December 2020

The genetics of the hereditary xeroderma pigmentosum syndrome

1 reference

12 December 2020

Alternative reference values for tear film break up time in normal and dry eye populations

1 reference

12 December 2020

Tear film dynamics and lipid layer characteristics--effect of age and gender

1 reference

12 December 2020

10.1016/J.OPHTHA.2012.12.044

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

23601806

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23601806%20AND%20SRC:MED&resulttype=core&format=json