1 |
[Cockayne Syndrome].
61
|
Moriwaki S
|
30988227 |
2019 |
2 |
Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case.
61
|
Metlo A...Jamali M
|
30317357 |
2018 |
3 |
Xeroderma pigmentosum-Cockayne syndrome complex.
61
|
Natale V...Raquer H
|
28376890 |
2017 |
4 |
Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
61
|
Kondo D...Takahashi T
|
27396511 |
2016 |
5 |
XPB: An unconventional SF2 DNA helicase.
61
|
Fan L...DuPrez KT
|
25641424 |
2015 |
6 |
Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.
61
|
Hijazi H...Alkuraya FS
|
24354460 |
2015 |
7 |
An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype.
61
|
Lehmann J...Emmert S
|
24702031 |
2014 |
8 |
Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
61
|
Schafer A...Emmert S
|
23800062 |
2013 |
9 |
Disorders of nucleotide excision repair.
61
|
Rapin I
|
23622385 |
2013 |
10 |
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.
61
|
Kleijer WJ...Lehmann AR
|
18329345 |
2008 |
11 |
XPG: its products and biological roles.
61
|
Scharer OD
|
19181113 |
2008 |
12 |
UV-induced apoptosis in XPG-deficient fibroblasts involves activation of CD95 and caspases but not p53.
61
|
Clement V...Clarkson SG
|
17208056 |
2007 |
13 |
Cockayne syndrome in adults: review with clinical and pathologic study of a new case.
61
|
Rapin I...Dickson DW
|
17092472 |
2006 |
14 |
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
61
|
Oh KS...Kraemer KH
|
16947863 |
2006 |
15 |
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
61
|
Emmert S...Kraemer KH
|
12060391 |
2002 |
16 |
Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases.
61
|
Lindenbaum Y...Rapin I
|
11764181 |
2001 |
17 |
Cockayne syndrome and xeroderma pigmentosum.
61
|
Rapin I...Robbins JH
|
11185579 |
2000 |
18 |
Xeroderma pigmentosum--Cockayne syndrome complex: a further case.
61
|
Hamel BC...Kleijer WJ
|
8818951 |
1996 |
19 |
Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer.
61
|
Kraemer KH...Seidman MM
|
7963692 |
1994 |
20 |
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair.
61
|
Scott RJ...Muller H
|
8408834 |
1993 |