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Results: 1 to 20 of 77

1.

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).

Lai JP, Liu YC, Alimchandani M, Liu Q, Aung PP, Matsuda K, Lee CC, Tsokos M, Hewitt S, Rushing EJ, Tamura D, Levens DL, Digiovanna JJ, Fine HA, Patronas N, Khan SG, Kleiner DE, Oberholtzer JC, Quezado MM, Kraemer KH.

Acta Neuropathol Commun. 2013 May 8;1(1):4. doi: 10.1186/2051-5960-1-4.

PMID:
24252196
[PubMed - in process]
Free PMC Article
2.

Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.

Viana LM, Seyyedi M, Brewer CC, Zalewski C, DiGiovanna JJ, Tamura D, Totonchy M, Kraemer KH, Nadol JB Jr.

Otol Neurotol. 2013 Sep;34(7):1230-6. doi: 10.1097/MAO.0b013e31829795e9.

PMID:
23928520
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T.

Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25.

PMID:
23623389
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillón J, Ramírez MJ, Pujol R, Casado JA, Baños R, Rio P, Knies K, Zúñiga S, Benítez J, Bueren JA, Jaspers NG, Schärer OD, de Winter JP, Schindler D, Surrallés J.

Am J Hum Genet. 2013 May 2;92(5):800-6. doi: 10.1016/j.ajhg.2013.04.002. Epub 2013 Apr 25.

PMID:
23623386
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.

Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH.

Ophthalmology. 2013 Jul;120(7):1324-36. doi: 10.1016/j.ophtha.2012.12.044. Epub 2013 Apr 16.

PMID:
23601806
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
23365097
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

Zhou X, Khan SG, Tamura D, Ueda T, Boyle J, Compe E, Egly JM, DiGiovanna JJ, Kraemer KH.

Eur J Hum Genet. 2013 Aug;21(8):831-7. doi: 10.1038/ejhg.2012.246. Epub 2012 Dec 12.

PMID:
23232694
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Ancient origin of a Japanese xeroderma pigmentosum founder mutation.

Imoto K, Nadem C, Moriwaki S, Nishigori C, Oh KS, Khan SG, Goldstein AM, Kraemer KH.

J Dermatol Sci. 2013 Feb;69(2):175-6. doi: 10.1016/j.jdermsci.2012.10.008. Epub 2012 Nov 9. No abstract available.

PMID:
23194742
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.

Falik-Zaccai TC, Erel-Segal R, Horev L, Bitterman-Deutsch O, Koka S, Chaim S, Keren Z, Kalfon L, Gross B, Segal Z, Orgal S, Shoval Y, Slor H, Spivak G, Hanawalt PC.

Environ Mol Mutagen. 2012 Aug;53(7):505-14. doi: 10.1002/em.21716. Epub 2012 Jul 23.

PMID:
22826098
[PubMed - indexed for MEDLINE]
11.

Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.

Tamura D, Khan SG, Merideth M, DiGiovanna JJ, Tucker MA, Goldstein AM, Oh KS, Ueda T, Boyle J, Sarihan M, Kraemer KH.

Eur J Hum Genet. 2012 Dec;20(12):1308-10. doi: 10.1038/ejhg.2012.90. Epub 2012 May 23.

PMID:
22617342
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.

Moriwaki S, Takigawa M, Igarashi N, Nagai Y, Amano H, Ishikawa O, Khan SG, Kraemer KH.

Exp Dermatol. 2012 Apr;21(4):304-7. doi: 10.1111/j.1600-0625.2012.01446.x.

PMID:
22417308
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
22217736
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.

Tamura D, Merideth M, DiGiovanna JJ, Zhou X, Tucker MA, Goldstein AM, Brooks BP, Khan SG, Oh KS, Ueda T, Boyle J, Moslehi R, Kraemer KH.

Prenat Diagn. 2011 Nov;31(11):1046-53. doi: 10.1002/pd.2829. Epub 2011 Jul 29.

PMID:
21800331
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
21684361
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.

Oh KS, Emmert S, Tamura D, DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2011 Mar;131(3):785-8. doi: 10.1038/jid.2010.352. Epub 2010 Nov 25. No abstract available.

PMID:
21107348
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
21097776
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms.

Takahashi Y, Endo Y, Sugiyama Y, Inoue S, Iijima M, Tomita Y, Kuru S, Takigawa M, Moriwaki S.

J Invest Dermatol. 2010 Oct;130(10):2481-8. doi: 10.1038/jid.2010.137. Epub 2010 Jun 24.

PMID:
20574439
[PubMed - indexed for MEDLINE]
Free Article
19.

Founder mutations in xeroderma pigmentosum.

Tamura D, DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2010 Jun;130(6):1491-3. doi: 10.1038/jid.2010.76.

PMID:
20463673
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Xeroderma pigmentosum: a review and case series.

Butt FM, Moshi JR, Owibingire S, Chindia ML.

J Craniomaxillofac Surg. 2010 Oct;38(7):534-7. doi: 10.1016/j.jcms.2010.02.006. Epub 2010 Mar 25. Review.

PMID:
20346687
[PubMed - indexed for MEDLINE]

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