Xeroderma pigmentosum-Cockayne syndrome complex

Absence of skin cancer in the DNA repair-deficient disease Cockayne Syndrome (CS): A survey study

(2016) William R. Zhang et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency

(2016) Kate S. Reid-Bayliss et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

(2016) Hiva Fassihi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Elevated Urinary Levels of 8-Hydroxy-2′-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome

(2016) Daiki Kondo et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

(2015) Brian T. Wilson et al.   GENETICS IN MEDICINE

An unusual mutation in theXPGgene leads to an internal in-frame deletion and a XP/CS complex phenotype

(2014) J. Lehmann et al.   BRITISH JOURNAL OF DERMATOLOGY

Differences in Clinical Phenotype among Patients with XP Complementation Group D: 3D Structure and ATP-Docking of XPD In Silico

(2014) Eiji Nakano et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Global Contributions to the Understanding of DNA Repair and Skin Cancer

(2014) Kenneth H. Kraemer et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

(2013) Kazuya Kashiyama et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions

(2013) M. Sethi et al.   BRITISH JOURNAL OF DERMATOLOGY

Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit

(2013) H. Hijazi et al.   CLINICAL GENETICS

Functional and molecular genetic analyses of nine newly identifiedXPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes

(2013) Annika Schäfer et al.   EXPERIMENTAL DERMATOLOGY

Characterization of Three XPG-Defective Patients Identifies Three Missense Mutations that Impair Repair and Transcription

(2013) Annika Schäfer et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Conceptual developments in the causes of Cockayne syndrome

(2013) James E. Cleaver et al.   MECHANISMS OF AGEING AND DEVELOPMENT

A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity

(2012) Tzipora C. Falik-Zaccai et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities

(2012) Shinichi Moriwaki et al.   EXPERIMENTAL DERMATOLOGY

A comprehensive description of the severity groups in Cockayne syndrome

(2011) Valerie Natale   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Physiological consequences of defects in ERCC1–XPF DNA repair endonuclease

(2011) Siobhán Q. Gregg et al.   DNA REPAIR

Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis

(2011) Tawhida Y Abdel Ghaffar et al.   Orphanet Journal of Rare Diseases

Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature

(2011) Hema L. Ramkumar et al.   SURVEY OF OPHTHALMOLOGY

Neuroimaging In Cockayne Syndrome

(2010) M. Koob et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

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

(2010) P. T. Bradford et al.   JOURNAL OF MEDICAL GENETICS

Mislocalization of XPF-ERCC1 Nuclease Contributes to Reduced DNA Repair in XP-F Patients

(2010) Anwaar Ahmad et al.   PLoS Genetics

Response of Motor Complications in Cockayne Syndrome to Carbidopa-Levodopa

(2008) Edward G. Neilan et al.   ARCHIVES OF NEUROLOGY

Neurological symptoms and natural course of xeroderma pigmentosum

(2008) A. Anttinen et al.   BRAIN

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases withERCC2(XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

(2008) Jennifer Boyle et al.   HUMAN MUTATION

Adult-Onset Neurological Degeneration in a Patient with Cockayne Syndrome and a Null Mutation in the CSB Gene

(2008) Satoru Hashimoto et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY