Search details
1.
APE1-dependent base excision repair of DNA photodimers in human cells.
Mol Cell
; 83(20): 3669-3678.e7, 2023 10 19.
Article
in English
| MEDLINE | ID: mdl-37816354
2.
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
J Med Genet
; 55(5): 329-343, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29572252
3.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc Natl Acad Sci U S A
; 113(9): E1236-45, 2016 Mar 01.
Article
in English
| MEDLINE | ID: mdl-26884178
4.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Am J Hum Genet
; 92(5): 807-19, 2013 May 02.
Article
in English
| MEDLINE | ID: mdl-23623389
5.
XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.
J Allergy Clin Immunol
; 136(4): 1007-17, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26255102
6.
Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system.
Cell Rep
; 43(6): 114243, 2024 May 27.
Article
in English
| MEDLINE | ID: mdl-38805398
7.
A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).
Nucleic Acids Res
; 37(4): e31, 2009 Mar.
Article
in English
| MEDLINE | ID: mdl-19179371
8.
Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap.
Pediatrics
; 148(4)2021 10.
Article
in English
| MEDLINE | ID: mdl-34593652
9.
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.
DNA Repair (Amst)
; 7(5): 744-50, 2008 May 03.
Article
in English
| MEDLINE | ID: mdl-18329345
10.
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features.
J Invest Dermatol
; 125(1): 86-92, 2005 Jul.
Article
in English
| MEDLINE | ID: mdl-15982307
11.
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
J Clin Invest
; 124(7): 3137-46, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24911150
12.
A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.
J Invest Dermatol
; 136(4): 869-872, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26743599
13.
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
Proc Natl Acad Sci U S A
; 99(2): 815-20, 2002 Jan 22.
Article
in English
| MEDLINE | ID: mdl-11773631
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