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Items: 1 to 20 of 90

1.

Do we know the cause of xeroderma pigmentosum?

Cleaver JE.

Carcinogenesis. 1990 Jun;11(6):875-82. Review.

PMID:
2189596
3.

The cloned human DNA excision repair gene ERCC-1 fails to correct xeroderma pigmentosum complementation groups A through I.

van Duin M, Vredeveldt G, Mayne LV, Odijk H, Vermeulen W, Klein B, Weeda G, Hoeijmakers JH, Bootsma D, Westerveld A.

Mutat Res. 1989 Mar;217(2):83-92.

PMID:
2918869
4.

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

Cleaver JE, Thompson LH, Richardson AS, States JC.

Hum Mutat. 1999;14(1):9-22. Review.

PMID:
10447254
5.

Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes.

Carreau M, Eveno E, Quilliet X, Chevalier-Lagente O, Benoit A, Tanganelli B, Stefanini M, Vermeulen W, Hoeijmakers JH, Sarasin A, et al.

Carcinogenesis. 1995 May;16(5):1003-9.

PMID:
7767957
6.
7.

Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.

Mezzina M, Eveno E, Chevallier-Lagente O, Benoit A, Carreau M, Vermeulen W, Hoeijmakers JH, Stefanini M, Lehmann AR, Weber CA, et al.

Carcinogenesis. 1994 Aug;15(8):1493-8.

PMID:
8055625
8.

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al.

Am J Hum Genet. 1995 Jan;56(1):167-74. Review.

9.

Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription.

van Hoffen A, Kalle WH, de Jong-Versteeg A, Lehmann AR, van Zeeland AA, Mullenders LH.

Nucleic Acids Res. 1999 Jul 15;27(14):2898-904.

10.

The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.

Riou L, Zeng L, Chevallier-Lagente O, Stary A, Nikaido O, Taïeb A, Weeda G, Mezzina M, Sarasin A.

Hum Mol Genet. 1999 Jun;8(6):1125-33.

PMID:
10332046
11.

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.

Vermeulen W, Jaeken J, Jaspers NG, Bootsma D, Hoeijmakers JH.

Am J Hum Genet. 1993 Jul;53(1):185-92.

13.

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taïeb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A.

Am J Hum Genet. 1997 Feb;60(2):320-9.

14.

The genetic basis of xeroderma pigmentosum.

Bootsma D, Hoeijmakers JH.

Ann Genet. 1991;34(3-4):143-50. Review.

PMID:
1809220
15.

Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription.

Berneburg M, Lehmann AR.

Adv Genet. 2001;43:71-102. Review.

PMID:
11037299
16.

Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype.

Itoh T, Cleaver JE, Yamaizumi M.

Hum Genet. 1996 Feb;97(2):176-9.

PMID:
8566949
18.

Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F.

van Vuuren AJ, Appeldoorn E, Odijk H, Yasui A, Jaspers NG, Bootsma D, Hoeijmakers JH.

EMBO J. 1993 Sep;12(9):3693-701.

19.

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR.

Proc Natl Acad Sci U S A. 1997 Aug 5;94(16):8658-63.

20.

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, Sarasin A, Harper JI, Arlett CF, Hoeijmakers JH, et al.

Am J Hum Genet. 1993 Oct;53(4):817-21.

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