PubMed (OMIM) for id: 404672

Year	Number of Results
1982	1
1993	1
1994	1
2000	2
2002	1
2003	1
2004	2
2006	1
2008	1
2014	1
2018	1
2019	1
2024	0

1

A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.

Michalska E, Koppolu A, Dobrzańska A, Płoski R, Gruszfeld D. Michalska E, et al. Eur J Med Genet. 2019 Sep;62(9):103557. doi: 10.1016/j.ejmg.2018.10.009. Epub 2018 Oct 22. Eur J Med Genet. 2019. PMID: 30359777

2

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. Moriwaki S, et al. J Dermatol. 2014 Aug;41(8):705-8. doi: 10.1111/1346-8138.12549. Epub 2014 Jul 2. J Dermatol. 2014. PMID: 24986372

3

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

Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Faghri S, et al. J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25. J Med Genet. 2008. PMID: 18603627 Free PMC article. Review.

4

p8/TTD-A as a repair-specific TFIIH subunit.

Coin F, Proietti De Santis L, Nardo T, Zlobinskaya O, Stefanini M, Egly JM. Coin F, et al. Mol Cell. 2006 Jan 20;21(2):215-26. doi: 10.1016/j.molcel.2005.10.024. Mol Cell. 2006. PMID: 16427011 Free article.

5

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. Giglia-Mari G, et al. Nat Genet. 2004 Jul;36(7):714-9. doi: 10.1038/ng1387. Epub 2004 Jun 27. Nat Genet. 2004. PMID: 15220921

6

Identification of TFB5, a new component of general transcription and DNA repair factor IIH.

Ranish JA, Hahn S, Lu Y, Yi EC, Li XJ, Eng J, Aebersold R. Ranish JA, et al. Nat Genet. 2004 Jul;36(7):707-13. doi: 10.1038/ng1385. Epub 2004 Jun 27. Nat Genet. 2004. PMID: 15220919

7

The study of macromolecular complexes by quantitative proteomics.

Ranish JA, Yi EC, Leslie DM, Purvine SO, Goodlett DR, Eng J, Aebersold R. Ranish JA, et al. Nat Genet. 2003 Mar;33(3):349-55. doi: 10.1038/ng1101. Epub 2003 Feb 18. Nat Genet. 2003. PMID: 12590263

8

Rapid switching of TFIIH between RNA polymerase I and II transcription and DNA repair in vivo.

Hoogstraten D, Nigg AL, Heath H, Mullenders LH, van Driel R, Hoeijmakers JH, Vermeulen W, Houtsmuller AB. Hoogstraten D, et al. Mol Cell. 2002 Nov;10(5):1163-74. doi: 10.1016/s1097-2765(02)00709-8. Mol Cell. 2002. PMID: 12453423 Free article.

9

Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder.

Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM. Vermeulen W, et al. Nat Genet. 2000 Nov;26(3):307-13. doi: 10.1038/81603. Nat Genet. 2000. PMID: 11062469

10

When more is better.

Petrini JH. Petrini JH. Nat Genet. 2000 Nov;26(3):257-8. doi: 10.1038/81529. Nat Genet. 2000. PMID: 11062454 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

13 results

Results by year