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Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D. Theil AF, et al. Among authors: raams a. Am J Hum Genet. 2019 Aug 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017. Am J Hum Genet. 2019. PMID: 31374204 Free PMC article.
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
Broughton BC, Cordonnier A, Kleijer WJ, Jaspers NG, Fawcett H, Raams A, Garritsen VH, Stary A, Avril MF, Boudsocq F, Masutani C, Hanaoka F, Fuchs RP, Sarasin A, Lehmann AR. Broughton BC, et al. Among authors: raams a. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):815-20. doi: 10.1073/pnas.022473899. Epub 2002 Jan 2. Proc Natl Acad Sci U S A. 2002. PMID: 11773631 Free PMC article.
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. Nakabayashi K, et al. Among authors: raams a. Am J Hum Genet. 2005 Mar;76(3):510-6. doi: 10.1086/428141. Epub 2005 Jan 11. Am J Hum Genet. 2005. PMID: 15645389 Free PMC article.
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
Andressoo JO, Mitchell JR, de Wit J, Hoogstraten D, Volker M, Toussaint W, Speksnijder E, Beems RB, van Steeg H, Jans J, de Zeeuw CI, Jaspers NG, Raams A, Lehmann AR, Vermeulen W, Hoeijmakers JH, van der Horst GT. Andressoo JO, et al. Among authors: raams a. Cancer Cell. 2006 Aug;10(2):121-32. doi: 10.1016/j.ccr.2006.05.027. Cancer Cell. 2006. PMID: 16904611 Free article.
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.
Niedernhofer LJ, Garinis GA, Raams A, Lalai AS, Robinson AR, Appeldoorn E, Odijk H, Oostendorp R, Ahmad A, van Leeuwen W, Theil AF, Vermeulen W, van der Horst GT, Meinecke P, Kleijer WJ, Vijg J, Jaspers NG, Hoeijmakers JH. Niedernhofer LJ, et al. Among authors: raams a. Nature. 2006 Dec 21;444(7122):1038-43. doi: 10.1038/nature05456. Nature. 2006. PMID: 17183314
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