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Items: 1 to 20 of 127

1.

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

Sethi M, Lehmann AR, Fawcett H, Stefanini M, Jaspers N, Mullard K, Turner S, Robson A, McGibbon D, Sarkany R, Fassihi H.

Br J Dermatol. 2013 Dec;169(6):1279-87. doi: 10.1111/bjd.12523.

PMID:
23889214
2.

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.

3.

[Xeroderma pigmentosum].

Takeuchi S.

Nihon Rinsho. 2000 Jul;58(7):1496-500. Review. Japanese.

PMID:
10921330
4.

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.

5.

Xeroderma pigmentosum: a Turkish case series.

Gül U, Kiliç A, Gönül M, Cakmak SK, Soylu S.

Int J Dermatol. 2007 Nov;46(11):1125-8.

PMID:
17988329
6.

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
7.

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Fassihi H, Sethi M, Fawcett H, Wing J, Chandler N, Mohammed S, Craythorne E, Morley AM, Lim R, Turner S, Henshaw T, Garrood I, Giunti P, Hedderly T, Abiona A, Naik H, Harrop G, McGibbon D, Jaspers NG, Botta E, Nardo T, Stefanini M, Young AR, Sarkany RP, Lehmann AR.

Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):E1236-45. doi: 10.1073/pnas.1519444113. Epub 2016 Feb 16.

8.

Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.

Schäfer A, Hofmann L, Gratchev A, Laspe P, Schubert S, Schürer A, Ohlenbusch A, Tzvetkov M, Hallermann C, Reichrath J, Schön MP, Emmert S.

Exp Dermatol. 2013 Jan;22(1):24-9. doi: 10.1111/exd.12052. Epub 2012 Nov 22.

PMID:
23173980
9.

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.

Zhou EY, Wang H, Lin Z, Xu G, Ma Z, Zhao J, Feng C, Duo L, Yin J, Yang Y.

J Dermatol. 2017 Jan;44(1):71-75. doi: 10.1111/1346-8138.13576. Epub 2016 Sep 8.

PMID:
27607234
10.

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
11.

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

Bradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Pike KM, Raziuddin A, Plona TM, DiGiovanna JJ, Tucker MA, Kraemer KH.

J Med Genet. 2011 Mar;48(3):168-76. doi: 10.1136/jmg.2010.083022. Epub 2010 Nov 19.

12.

The present status of xeroderma pigmentosum in Japan and a tentative severity classification scale.

Nakano E, Masaki T, Kanda F, Ono R, Takeuchi S, Moriwaki S, Nishigori C.

Exp Dermatol. 2016 Aug;25 Suppl 3:28-33. doi: 10.1111/exd.13082.

PMID:
27539899
13.

Report of three sisters with XP-E, a rare xeroderma pigmentosum complementation group.

Fischer E, Schnyder UW, Jung EG.

Photodermatol. 1984 Oct;1(5):232-6.

PMID:
6531300
14.

Xeroderma pigmentosum: recent clinical and photobiological aspects.

Kondo S, Fukuro S, Nishioka K, Satoh Y.

J Dermatol. 1992 Nov;19(11):690-5.

PMID:
1293156
15.

Neurological symptoms and natural course of xeroderma pigmentosum.

Anttinen A, Koulu L, Nikoskelainen E, Portin R, Kurki T, Erkinjuntti M, Jaspers NG, Raams A, Green MH, Lehmann AR, Wing JF, Arlett CF, Marttila RJ.

Brain. 2008 Aug;131(Pt 8):1979-89. doi: 10.1093/brain/awn126. Epub 2008 Jun 21.

PMID:
18567921
16.

Xeroderma pigmentosum in an African-American.

Orosco RK, Wang T, Byrne PJ.

ORL J Otorhinolaryngol Relat Spec. 2011;73(3):162-5. doi: 10.1159/000328343. Epub 2011 May 11.

17.

Clinical and photobiological characteristics of Japanese xeroderma pigmentosum variant.

Ichihashi M, Fujiwara Y.

Br J Dermatol. 1981 Jul;105(1):1-12.

PMID:
7259973
18.

Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum.

Pawsey SA, Magnus IA, Ramsay CA, Benson PF, Giannelli F.

Q J Med. 1979 Apr;48(190):179-210.

PMID:
504548
19.

Xeroderma pigmentosum: beyond skin cancer.

Lichon V, Khachemoune A.

J Drugs Dermatol. 2007 Mar;6(3):281-8. Review.

PMID:
17373189
20.

Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.

Opletalova K, Bourillon A, Yang W, Pouvelle C, Armier J, Despras E, Ludovic M, Mateus C, Robert C, Kannouche P, Soufir N, Sarasin A.

Hum Mutat. 2014 Jan;35(1):117-28.

PMID:
24130121

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