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Results: 1 to 20 of 45

1.

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
2.

Trichothiodystrophy with dysmyelination and central osteosclerosis.

Harreld JH, Smith EC, Prose NS, Puri PK, Barboriak DP.

AJNR Am J Neuroradiol. 2010 Jan;31(1):129-30. doi: 10.3174/ajnr.A1665.

PMID:
20075106
[PubMed - indexed for MEDLINE]
Free Article
3.

Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development.

Moslehi R, Signore C, Tamura D, Mills JL, Digiovanna JJ, Tucker MA, Troendle J, Ueda T, Boyle J, Khan SG, Oh KS, Goldstein AM, Kraemer KH.

Clin Genet. 2010 Apr;77(4):365-73. doi: 10.1111/j.1399-0004.2009.01336.x. Epub 2009 Dec 10.

PMID:
20002457
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.

Ueda T, Compe E, Catez P, Kraemer KH, Egly JM.

J Exp Med. 2009 Dec 21;206(13):3031-46. doi: 10.1084/jem.20091892. Epub 2009 Nov 23.

PMID:
19934020
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Trichothiodystrophy: from basic mechanisms to clinical implications.

Stefanini M, Botta E, Lanzafame M, Orioli D.

DNA Repair (Amst). 2010 Jan 2;9(1):2-10. doi: 10.1016/j.dnarep.2009.10.005. Review.

PMID:
19931493
[PubMed - indexed for MEDLINE]
6.

The prevalence of nystagmus: the Leicestershire nystagmus survey.

Sarvananthan N, Surendran M, Roberts EO, Jain S, Thomas S, Shah N, Proudlock FA, Thompson JR, McLean RJ, Degg C, Woodruff G, Gottlob I.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5201-6. doi: 10.1167/iovs.09-3486. Epub 2009 May 20.

PMID:
19458336
[PubMed - indexed for MEDLINE]
Free Article
7.

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Faghri S, Tamura D, Kraemer KH, Digiovanna JJ.

J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25. Review.

PMID:
18603627
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.

Hum Mutat. 2008 Oct;29(10):1194-208. doi: 10.1002/humu.20768.

PMID:
18470933
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NG, Sarasin A, Stefanini M, Lehmann AR.

DNA Repair (Amst). 2008 May 3;7(5):744-50. doi: 10.1016/j.dnarep.2008.01.014. Epub 2008 Mar 10.

PMID:
18329345
[PubMed - indexed for MEDLINE]
10.

Nucleotide excision repair deficient mouse models and neurological disease.

Niedernhofer LJ.

DNA Repair (Amst). 2008 Jul 1;7(7):1180-9. doi: 10.1016/j.dnarep.2007.12.006. Epub 2008 Feb 12. Review.

PMID:
18272436
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
17276014
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Structural and molecular hair abnormalities in trichothiodystrophy.

Liang C, Morris A, Schl├╝cker S, Imoto K, Price VH, Menefee E, Wincovitch SM, Levin IW, Tamura D, Strehle KR, Kraemer KH, DiGiovanna JJ.

J Invest Dermatol. 2006 Oct;126(10):2210-6. Epub 2006 May 25.

PMID:
16728971
[PubMed - indexed for MEDLINE]
Free Article
13.

Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: a quantitative analysis by Raman microspectroscopy.

Schl├╝cker S, Liang C, Strehle KR, DiGiovanna JJ, Kraemer KH, Levin IW.

Biopolymers. 2006 Aug 15;82(6):615-22.

PMID:
16557500
[PubMed - indexed for MEDLINE]
14.

Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy.

Liang C, Kraemer KH, Morris A, Schiffmann R, Price VH, Menefee E, DiGiovanna JJ.

J Am Acad Dermatol. 2005 Feb;52(2):224-32.

PMID:
15692466
[PubMed - indexed for MEDLINE]
15.

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW.

Am J Hum Genet. 2005 Mar;76(3):510-6. Epub 2005 Jan 11.

PMID:
15645389
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Splitting hairs--discovery of a new DNA repair and transcription factor for the human disease trichothiodystrophy.

Cleaver JE.

DNA Repair (Amst). 2005 Feb 3;4(2):285-7. Review.

PMID:
15590337
[PubMed - indexed for MEDLINE]
17.

Corneal thickness in children.

Hussein MA, Paysse EA, Bell NP, Coats DK, Brady McCreery KM, Koch DD, Orengo-Nania S, Baskin D, Wilhelmus KR.

Am J Ophthalmol. 2004 Nov;138(5):744-8.

PMID:
15531308
[PubMed - indexed for MEDLINE]
18.

Grading of corneal and conjunctival staining in the context of other dry eye tests.

Bron AJ, Evans VE, Smith JA.

Cornea. 2003 Oct;22(7):640-50. Review.

PMID:
14508260
[PubMed - indexed for MEDLINE]
19.

Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.

Dubaele S, Proietti De Santis L, Bienstock RJ, Keriel A, Stefanini M, Van Houten B, Egly JM.

Mol Cell. 2003 Jun;11(6):1635-46.

PMID:
12820975
[PubMed - indexed for MEDLINE]
Free Article
20.

Prevalence of dry eye among an elderly Chinese population in Taiwan: the Shihpai Eye Study.

Lin PY, Tsai SY, Cheng CY, Liu JH, Chou P, Hsu WM.

Ophthalmology. 2003 Jun;110(6):1096-101.

PMID:
12799232
[PubMed - indexed for MEDLINE]

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