Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
about
Progeria: a rare genetic premature ageing disorderXeroderma pigmentosumAdverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal developmentDNA repair diseases: What do they tell us about cancer and aging?Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemiaThe cerebro-morphological fingerprint of a progeroid syndrome: white matter changes correlate with neurological symptoms in xeroderma pigmentosumUnexpected occurrence of xeroderma pigmentosum in an uncle and nephew.Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literatureTargeting and processing of site-specific DNA interstrand crosslinks.Growth and nutrition in children with trichothiodystrophy.Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases.Spotlight on 'xeroderma pigmentosum'.Ancient origin of a Japanese xeroderma pigmentosum founder mutationWhole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiologyHistopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.Diagnosis of Xeroderma Pigmentosum and Related DNA Repair-Deficient Cutaneous DiseasesXeroderma pigmentosa: three new cases with an in depth review of the genetic and clinical characteristics of the disease.Ocular manifestations of trichothiodystrophyHigh-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTGIdentification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.Founder mutations in xeroderma pigmentosum.Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectA possible cranio-oro-facial phenotype in Cockayne syndrome.The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageAbnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.Skin cancers, blindness, and anterior tongue mass in African brothers.Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.A Register-Based Study of Diseases With an Autosomal Recessive Origin in Small Children in Denmark According to Maternal Country of Origin.Scalp squamous cell carcinoma in xeroderma pigmentosumExperiences of stigma over the lifetime of people with xeroderma pigmentosum: A qualitative interview study in the United Kingdom.Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.
P2860
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P2860
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
description
2008 nî lūn-bûn
@nan
2008 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Incidence of DNA repair defici ...... ndrome and trichothiodystrophy
@ast
Incidence of DNA repair defici ...... ndrome and trichothiodystrophy
@en
Incidence of DNA repair defici ...... ndrome and trichothiodystrophy
@nl
type
label
Incidence of DNA repair defici ...... ndrome and trichothiodystrophy
@ast
Incidence of DNA repair defici ...... ndrome and trichothiodystrophy
@en
Incidence of DNA repair defici ...... ndrome and trichothiodystrophy
@nl
prefLabel
Incidence of DNA repair defici ...... ndrome and trichothiodystrophy
@ast
Incidence of DNA repair defici ...... ndrome and trichothiodystrophy
@en
Incidence of DNA repair defici ...... ndrome and trichothiodystrophy
@nl
P2093
P3181
P1433
P1476
Incidence of DNA repair defici ...... ndrome and trichothiodystrophy
@en
P2093
Alain Sarasin
Alan R Lehmann
Heather Fawcett
Mark Berneburg
Miria Stefanini
Nicolaas G J Jaspers
Tiziana Nardo
Vincent Laugel
Wim J Kleijer
P304
P3181
P356
10.1016/J.DNAREP.2008.01.014
P407
P577
2008-03-10T00:00:00Z