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Items: 15

1.

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.

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 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
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
6.

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
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.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
9.

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
10.
11.

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.

12.

[Hair-nail ectodermal dysplasia].

Ieshima A.

Ryoikibetsu Shokogun Shirizu. 2001;(33):777-8. Review. Japanese. No abstract available.

PMID:
11462681
13.

[Trichodermodysplasia-dental defects or alterations].

Ishii T.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):747. Review. Japanese. No abstract available.

PMID:
11529002
14.

[Trichothiodystrophy].

Makita Y.

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

PMID:
11529010
15.

The related DNA repair deficient photosensitive diseases.

Epstein JH.

Photodermatol Photoimmunol Photomed. 1999 Dec;15(6):219-20. Review. No abstract available.

PMID:
10599970

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