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Results: 15

Related Articles by Review for PubMed (Select 18603627)

1.

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.

2.

Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.

Lambert WC, Gagna CE, Lambert MW.

Adv Exp Med Biol. 2010;685:106-10. Review.

PMID:
20687499
3.

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
4.

New clinico-genetic classification of trichothiodystrophy.

Morice-Picard F, Cario-André M, Rezvani H, Lacombe D, Sarasin A, Taïeb A.

Am J Med Genet A. 2009 Sep;149A(9):2020-30. doi: 10.1002/ajmg.a.32902. Review.

PMID:
19681155
5.

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.

Itin PH, Sarasin A, Pittelkow MR.

J Am Acad Dermatol. 2001 Jun;44(6):891-920; quiz 921-4. Review.

PMID:
11369901
6.

Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.

Hashimoto S, Egly JM.

Hum Mol Genet. 2009 Oct 15;18(R2):R224-30. doi: 10.1093/hmg/ddp390. Review.

7.

Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.

Itin PH, Pittelkow MR.

J Am Acad Dermatol. 1990 May;22(5 Pt 1):705-17. Review.

PMID:
2189905
8.

PIBI(D)S: clinical and molecular characterization of a new case.

Fortina AB, Alaibac M, Piaserico S, Peserico A.

J Eur Acad Dermatol Venereol. 2001 Jan;15(1):65-9. Review.

PMID:
11451329
9.

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

Stefanini M, Giliani S, Nardo T, Marinoni S, Nazzaro V, Rizzo R, Trevisan G.

Mutat Res. 1992 Mar;273(2):119-25. Review.

PMID:
1372095
10.

DNA repair deficient photodermatoses.

Lehmann AR, Norris PG.

Semin Dermatol. 1990 Mar;9(1):55-62. Review.

PMID:
2203444
11.

Nucleotide excision repair and human syndromes.

de Boer J, Hoeijmakers JH.

Carcinogenesis. 2000 Mar;21(3):453-60. Review.

12.

Trichothiodystrophy, a transcription syndrome.

Bergmann E, Egly JM.

Trends Genet. 2001 May;17(5):279-86. Review.

PMID:
11335038
13.

Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.

Hosseini M, Ezzedine K, Taieb A, Rezvani HR.

J Invest Dermatol. 2015 Feb;135(2):341-51. doi: 10.1038/jid.2014.365. Epub 2014 Oct 9. Review.

PMID:
25296907
14.

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.

15.

The versatile DNA nucleotide excision repair (NER) and its medical significance.

Falik-Zaccai TC, Keren Z, Slor H.

Pediatr Endocrinol Rev. 2009 Dec;7(2):37-42. Review.

PMID:
20118892
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