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132 results

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Page 1
Trichothiodystrophy.
Garon L, Kokta V, Coulombe J. Garon L, et al. JAMA Dermatol. 2023 Aug 1;159(8):877. doi: 10.1001/jamadermatol.2023.0913. JAMA Dermatol. 2023. PMID: 37342013
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair.
Brickner JR, Soll JM, Lombardi PM, Vågbø CB, Mudge MC, Oyeniran C, Rabe R, Jackson J, Sullender ME, Blazosky E, Byrum AK, Zhao Y, Corbett MA, Gécz J, Field M, Vindigni A, Slupphaug G, Wolberger C, Mosammaparast N. Brickner JR, et al. Nature. 2017 Nov 16;551(7680):389-393. doi: 10.1038/nature24484. Epub 2017 Nov 8. Nature. 2017. PMID: 29144457 Free PMC article.
Molecular regulation of UV-induced DNA repair.
Shah P, He YY. Shah P, et al. Photochem Photobiol. 2015 Mar-Apr;91(2):254-64. doi: 10.1111/php.12406. Epub 2015 Jan 14. Photochem Photobiol. 2015. PMID: 25534312 Free PMC article. Review.
Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
Sperelakis-Beedham B, Ruaud L, Vial Y, Rachid M, Ageorges F, Goujon L, Verloes A, Tabet AC, Bourrat E, Lévy J. Sperelakis-Beedham B, et al. J Eur Acad Dermatol Venereol. 2024 Mar;38(3):e222-e226. doi: 10.1111/jdv.19545. Epub 2023 Oct 16. J Eur Acad Dermatol Venereol. 2024. PMID: 37793898 No abstract available.
New clinico-genetic classification of trichothiodystrophy.
Morice-Picard F, Cario-André M, Rezvani H, Lacombe D, Sarasin A, Taïeb A. Morice-Picard F, et al. Am J Med Genet A. 2009 Sep;149A(9):2020-30. doi: 10.1002/ajmg.a.32902. Am J Med Genet A. 2009. PMID: 19681155 Review.
132 results