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Items: 18

1.

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.

Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M.

Hum Mutat. 2007 Jan;28(1):92-6.

PMID:
16977596
2.

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
3.

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
4.

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
5.

Trichothiodystrophy, a transcription syndrome.

Bergmann E, Egly JM.

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

PMID:
11335038
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.

PMID:
19808800
7.

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

Lambert WC, Gagna CE, Lambert MW.

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

PMID:
20687499
8.
9.

The molecular basis of quantitative fibrinogen disorders.

Asselta R, Duga S, Tenchini ML.

J Thromb Haemost. 2006 Oct;4(10):2115-29. Review.

10.

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
11.

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
12.

Pattern of p63 mutations and their phenotypes--update.

Rinne T, Hamel B, van Bokhoven H, Brunner HG.

Am J Med Genet A. 2006 Jul 1;140(13):1396-406. Review.

PMID:
16691622
13.

Molecular genetics of the ichthyoses.

Richard G.

Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):32-44. Review.

PMID:
15452860
14.

[Genetically induced hair diseases].

Wiederholt T, Poblete-Gutiérrez P, Frank J.

Hautarzt. 2003 Aug;54(8):723-31. Epub 2003 Jul 4. Review. German.

PMID:
12942186
15.

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.

16.

Genetic hair and nail disorders.

Sprecher E.

Clin Dermatol. 2005 Jan-Feb;23(1):47-55. Review.

PMID:
15708289
17.

Molecular genetics of hereditary hair and nail disease.

van Steensel MA, van Geel M, Steijlen PM.

Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):52-60. Review.

PMID:
15468149
18.

[Trichothiodystrophy].

Makita Y.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):759-60. Review. Japanese. No abstract available.

PMID:
11529010

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