Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
about
Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™Xeroderma pigmentosumThe role of altered nucleotide excision repair and UVB-induced DNA damage in melanomagenesisXeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patientsNucleotide Excision Repair and Vitamin D--Relevance for Skin Cancer TherapyGenetic causes of cancer predisposition in children and adolescentsPhotosensitive human syndromesPathways for repairing and tolerating the spectrum of oxidative DNA lesionsChimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyCorrelation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutationsNucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cellsAuditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degenerationA unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome.A novel role for transcription-coupled nucleotide excision repair for the in vivo repair of 3,N4-ethenocytosine.De Sanctis-Cacchione syndrome: A case report and literature review.Clinical utility gene card for: Xeroderma pigmentosum.A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.Fluorescence detection of cellular nucleotide excision repair of damaged DNA.Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literatureMelanoma genetics.Prenatal diagnosis of xeroderma pigmentosum group A in Japan.Association between single nucleotide polymorphisms in ERCC4 and risk of squamous cell carcinoma of the head and neckSpotlight on 'xeroderma pigmentosum'.Ancient origin of a Japanese xeroderma pigmentosum founder mutationOxidative DNA damage and nucleotide excision repair.XPA: A key scaffold for human nucleotide excision repair.DNA repair mechanisms in dividing and non-dividing cells.Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiologyHistopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.Forty years of research on xeroderma pigmentosum at the US National Institutes of Health.Redefining the DNA-binding domain of human XPA.Xeroderma pigmentosa: three new cases with an in depth review of the genetic and clinical characteristics of the disease.Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.Ocular manifestations of trichothiodystrophyHigh-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.Shining a light on xeroderma pigmentosum.Detection of UV-induced cyclobutane pyrimidine dimers by near-infrared spectroscopy and aquaphotomics.Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.Genetic Modulation of Neurocognitive Function in Glioma Patients
P2860
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P2860
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Cancer and neurologic degenera ...... erises the role of DNA repair.
@ast
Cancer and neurologic degenera ...... erises the role of DNA repair.
@en
type
label
Cancer and neurologic degenera ...... erises the role of DNA repair.
@ast
Cancer and neurologic degenera ...... erises the role of DNA repair.
@en
prefLabel
Cancer and neurologic degenera ...... erises the role of DNA repair.
@ast
Cancer and neurologic degenera ...... erises the role of DNA repair.
@en
P2093
P2860
P356
P1476
Cancer and neurologic degenera ...... terises the role of DNA repair
@en
P2093
Alisa M Goldstein
Arati Raziuddin
Deborah Tamura
Hiroki Inui
Jennifer Boyle
John J DiGiovanna
Kristen M Pike
Kyoko Imoto
Kyu-Seon Oh
Margaret A Tucker
P2860
P304
P356
10.1136/JMG.2010.083022
P407
P577
2010-11-19T00:00:00Z