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The mutation spectrum in RECQL4 diseases.
Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. Siitonen HA, et al. Among authors: plon se. Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716613 Free PMC article.
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A. Van Maldergem L, et al. Among authors: plon se. J Med Genet. 2006 Feb;43(2):148-52. doi: 10.1136/jmg.2005.031781. Epub 2005 Jun 17. J Med Genet. 2006. PMID: 15964893 Free PMC article.
The involvement of human RECQL4 in DNA double-strand break repair.
Singh DK, Karmakar P, Aamann M, Schurman SH, May A, Croteau DL, Burks L, Plon SE, Bohr VA. Singh DK, et al. Among authors: plon se. Aging Cell. 2010 Jun;9(3):358-71. doi: 10.1111/j.1474-9726.2010.00562.x. Epub 2010 Mar 6. Aging Cell. 2010. PMID: 20222902 Free PMC article.
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM. Ajeawung NF, et al. Among authors: plon se. Am J Hum Genet. 2019 Sep 5;105(3):625-630. doi: 10.1016/j.ajhg.2019.06.011. Epub 2019 Jul 11. Am J Hum Genet. 2019. PMID: 31303264 Free PMC article.
237 results