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Items: 1 to 20 of 102

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.

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
3.

A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.

Pode-Shakked B, Marek-Yagel D, Greenberger S, Pode-Shakked N, Pras E, Barzilai A, Yassin S, Sidi Y, Anikster Y.

Eur J Med Genet. 2015 Dec;58(12):685-8. doi: 10.1016/j.ejmg.2015.10.012. Epub 2015 Oct 27.

PMID:
26518168
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: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.

Chen E, Cleaver JE, Weber CA, Packman S, Barkovich AJ, Koch TK, Williams ML, Golabi M, Price VH.

J Invest Dermatol. 1994 Nov;103(5 Suppl):154S-158S.

PMID:
7963680
7.

[Trichothiodystrophy: progresssive manifestations].

Foulc P, Jumbou O, David A, Sarasin A, Stalder JF.

Ann Dermatol Venereol. 1999 Oct;126(10):703-7. French.

8.

Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.

Heller ER, Khan SG, Kuschal C, Tamura D, DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2015 Mar;135(3):734-41. doi: 10.1038/jid.2014.440. Epub 2014 Oct 7.

9.

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.

Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W.

Nat Genet. 2004 Jul;36(7):714-9. Epub 2004 Jun 27.

PMID:
15220921
10.

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
11.

Pollitt syndrome patients carry mutation in TTDN1.

Swagemakers SM, Jaspers NG, Raams A, Heijsman D, Vermeulen W, Troelstra C, Kremer A, Lincoln SE, Tearle R, Hoeijmakers JH, van der Spek PJ.

Meta Gene. 2014 Aug 30;2:616-8. doi: 10.1016/j.mgene.2014.08.001. eCollection 2014 Dec.

12.

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
13.

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
14.

A Japanese trichothiodystrophy patient with XPD mutations.

Usuda T, Saijo M, Tanaka K, Sato N, Uchiyama M, Kobayashi T.

J Hum Genet. 2011 Jan;56(1):77-9. doi: 10.1038/jhg.2010.123. Epub 2010 Oct 14.

PMID:
20944642
15.

Amish brittle hair syndrome gene maps to 7p14.1.

Seboun E, Lemainque A, Jackson CE.

Am J Med Genet A. 2005 Apr 30;134(3):290-4.

PMID:
15723315
16.

Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3.

Tariq M, Khan MN, Ahmad W.

Hum Genet. 2009 May;125(4):421-9. doi: 10.1007/s00439-009-0640-y. Epub 2009 Feb 17.

PMID:
19221800
17.

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

Lambert WC, Gagna CE, Lambert MW.

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

PMID:
20687499
18.

Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.

Viprakasit V, Gibbons RJ, Broughton BC, Tolmie JL, Brown D, Lunt P, Winter RM, Marinoni S, Stefanini M, Brueton L, Lehmann AR, Higgs DR.

Hum Mol Genet. 2001 Nov 15;10(24):2797-802.

PMID:
11734544
19.

Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.

Moriwaki S, Saruwatari H, Kanzaki T, Kanekura T, Minoshima S.

J Dermatol. 2014 Aug;41(8):705-8. doi: 10.1111/1346-8138.12549. Epub 2014 Jul 2.

PMID:
24986372
20.

Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.

Sarasin A, Blanchet-Bardon C, Renault G, Lehmann A, Arlett C, Dumez Y.

Br J Dermatol. 1992 Nov;127(5):485-91.

PMID:
1281671

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