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Items: 14

1.

Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

Zafeiriou DI, Thorel F, Andreou A, Kleijer WJ, Raams A, Garritsen VH, Gombakis N, Jaspers NG, Clarkson SG.

Pediatr Res. 2001 Mar;49(3):407-12.

PMID:
11228268
2.

Xeroderma pigmentosum and molecular cloning of DNA repair genes.

Boulikas T.

Anticancer Res. 1996 Mar-Apr;16(2):693-708. Review.

PMID:
8687116
3.

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.

4.

Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases.

Lindenbaum Y, Dickson D, Rosenbaum P, Kraemer K, Robbins I, Rapin I.

Eur J Paediatr Neurol. 2001;5(6):225-42. Review.

PMID:
11764181
7.

XPG: its products and biological roles.

Schärer OD.

Adv Exp Med Biol. 2008;637:83-92. Review.

8.

[Function of XPG gene and symptoms caused by its defect].

Shiomi T.

Tanpakushitsu Kakusan Koso. 2001 Jun;46(8 Suppl):902-7. Review. Japanese. No abstract available.

PMID:
11436315
9.

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
10.

A genetic mouse model carrying the nonfunctional xeroderma pigmentosum group G gene.

Sun XZ, Harada YN, Zhang R, Cui C, Takahashi S, Fukui Y.

Congenit Anom (Kyoto). 2003 Jun;43(2):133-9. Review.

PMID:
12893972
11.

[Photosensitive disorders--focusing on photosensitive genetic diseases].

Nishigori C.

Nihon Rinsho. 2010 Jun;68(6):1187-95. Review. Japanese.

PMID:
20535974
12.

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

Berneburg M, Lehmann AR.

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

PMID:
11037299
13.

Unraveling DNA repair in human: molecular mechanisms and consequences of repair defect.

Tuteja N, Tuteja R.

Crit Rev Biochem Mol Biol. 2001;36(3):261-90. Review.

PMID:
11450971
14.

Cockayne syndrome in adults: review with clinical and pathologic study of a new case.

Rapin I, Weidenheim K, Lindenbaum Y, Rosenbaum P, Merchant SN, Krishna S, Dickson DW.

J Child Neurol. 2006 Nov;21(11):991-1006. Review.

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