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

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29 February 2020

main subject

xeroderma pigmentosum

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2

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29 February 2020

Sikandar G Khan

9

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29 February 2020

Kenneth H Kraemer

20

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author name string

Brian P Brooks

1

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29 February 2020

Rachel J Bishop

3

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29 February 2020

Janine A Clayton

4

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29 February 2020

Ekaterini T Tsilou

6

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29 February 2020

Wadih M Zein

7

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29 February 2020

Deborah Tamura

8

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29 February 2020

Takahiro Ueda

10

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29 February 2020

Jennifer Boyle

11

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29 February 2020

Kyu-Seon Oh

12

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29 February 2020

Kyoko Imoto

13

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29 February 2020

Hiroki Inui

14

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29 February 2020

Shin-Ichi Moriwaki

15

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29 February 2020

Steffen Emmert

16

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29 February 2020

Nicholas T Iliff

17

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29 February 2020

Porcia Bradford

18

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29 February 2020

John J Digiovanna

19

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29 February 2020

Chi-Chao Chan

5

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29 February 2020

publication date

16 April 2013

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29 February 2020

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29 February 2020

volume

120

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29 February 2020

issue

7

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29 February 2020

page(s)

1324-1336

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Ocular manifestations of trichothiodystrophy

29 February 2020

cites work

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

29 September 2017

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29 September 2017

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

29 September 2017

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

29 September 2017

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

29 September 2017

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Neurological symptoms and natural course of xeroderma pigmentosum

29 September 2017

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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

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

29 September 2017

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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

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29 September 2017

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

29 September 2017

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

29 September 2017

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

29 September 2017

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

29 September 2017

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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

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

29 September 2017

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Reassessment of the corneal endothelial cell organisation in children

29 September 2017

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

29 September 2017

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Central corneal pachymetry in patients undergoing laser in situ keratomileusis

29 September 2017

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Xeroderma pigmentosum in black South Africans

29 September 2017

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

29 September 2017

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29 September 2017

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

29 September 2017

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29 September 2017

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29 September 2017

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

29 September 2017

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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

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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

29 September 2017

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29 September 2017

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27 June 2018

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Cytologic evidence of corneal diseases with limbal stem cell deficiency.

27 June 2018

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Xeroderma pigmentosum--Cockayne syndrome complex: a further case

27 June 2018

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

27 June 2018

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Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration

27 June 2018

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

27 June 2018

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

27 June 2018

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Protective role of corneal epithelium against ultraviolet radiation damage

4 September 2018

1 reference

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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

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Ocular involvement in xeroderma pigmentosum.

4 September 2018

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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

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12 December 2020

The genetics of the hereditary xeroderma pigmentosum syndrome

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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