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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: kleijer wj. Nature. 2006 Dec 21;444(7122):1038-43. doi: 10.1038/nature05456. Nature. 2006. PMID: 17183314
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W. Jaspers NG, et al. Among authors: kleijer wj. Am J Hum Genet. 2007 Mar;80(3):457-66. doi: 10.1086/512486. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273966 Free PMC article.
Xeroderma pigmentosum--Cockayne syndrome complex: a further case.
Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ. Hamel BC, et al. Among authors: kleijer wj. J Med Genet. 1996 Jul;33(7):607-10. doi: 10.1136/jmg.33.7.607. J Med Genet. 1996. PMID: 8818951 Free PMC article.
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