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Items: 1 to 20 of 30

1.

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.

Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, Wiggs E, Griffith AJ, DiGiovanna JJ, Kraemer KH, Brewer CC.

Brain. 2013 Jan;136(Pt 1):194-208. doi: 10.1093/brain/aws317.

2.

Cockayne syndrome and xeroderma pigmentosum.

Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH.

Neurology. 2000 Nov 28;55(10):1442-9. Review.

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
5.

Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.

Ramkumar HL, Brooks BP, Cao X, Tamura D, Digiovanna JJ, Kraemer KH, Chan CC.

Surv Ophthalmol. 2011 Jul-Aug;56(4):348-61. doi: 10.1016/j.survophthal.2011.03.001. Review.

6.

Cancer in xeroderma pigmentosum and related disorders of DNA repair.

Cleaver JE.

Nat Rev Cancer. 2005 Jul;5(7):564-73. Review.

PMID:
16069818
7.

[Xeroderma pigmentosum: children of the moon].

Herouy Y, Krutmann J, Norgauer J, Schöpf E.

J Dtsch Dermatol Ges. 2003 Mar;1(3):191-8. Review. German.

PMID:
16285494
8.

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.

Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ.

Neuroscience. 2007 Apr 14;145(4):1388-96. Epub 2007 Feb 1. Review.

9.

Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer.

Kraemer KH, Levy DD, Parris CN, Gozukara EM, Moriwaki S, Adelberg S, Seidman MM.

J Invest Dermatol. 1994 Nov;103(5 Suppl):96S-101S. Review.

PMID:
7963692
10.
11.
12.

Shining a light on xeroderma pigmentosum.

DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2012 Mar;132(3 Pt 2):785-96. doi: 10.1038/jid.2011.426. Epub 2012 Jan 5. Review.

13.

Xeroderma pigmentosum.

Lehmann AR, McGibbon D, Stefanini M.

Orphanet J Rare Dis. 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. Review.

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.

15.

Nucleotide excision repair and cancer.

Leibeling D, Laspe P, Emmert S.

J Mol Histol. 2006 Sep;37(5-7):225-38. Epub 2006 Jul 20. Review.

PMID:
16855787
16.

Xeroderma pigmentosum--bridging a gap between clinic and laboratory.

Moriwaki S, Kraemer KH.

Photodermatol Photoimmunol Photomed. 2001 Apr;17(2):47-54. Review.

PMID:
11338401
17.

A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma.

Sidwell RU, Sandison A, Wing J, Fawcett HD, Seet JE, Fisher C, Nardo T, Stefanini M, Lehmann AR, Cream JJ.

Br J Dermatol. 2006 Jul;155(1):81-8. Review.

PMID:
16792756
18.

[Xeroderma pigmentosum].

Stary A, Sarasin A.

Presse Med. 1997 Dec 20;26(40):1992-7. Review. French.

PMID:
9537004
19.
20.

Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E and F.

Kondo S, Mamada A, Miyamoto C, Keong CH, Satoh Y, Fujiwara Y.

Photodermatol. 1989 Apr;6(2):89-95. Review.

PMID:
2664729
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