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A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation.
Wong HY, Hoogerbrugge JW, Pang KL, van Leeuwen M, van Royen ME, Molier M, Berrevoets CA, Dooijes D, Dubbink HJ, van de Wijngaart DJ, Wolffenbuttel KP, Trapman J, Kleijer WJ, Drop SL, Grootegoed JA, Brinkmann AO. Wong HY, et al. Among authors: kleijer wj. Mol Cell Endocrinol. 2008 Sep 24;292(1-2):69-78. doi: 10.1016/j.mce.2008.06.016. Epub 2008 Jul 5. Mol Cell Endocrinol. 2008. PMID: 18656523
Molecular basis of androgen insensitivity.
Brüggenwirth HT, Boehmer AL, Verleun-Mooijman MC, Hoogenboezem T, Kleijer WJ, Otten BJ, Trapman J, Brinkmann AO. Brüggenwirth HT, et al. Among authors: kleijer wj. J Steroid Biochem Mol Biol. 1996 Aug;58(5-6):569-75. doi: 10.1016/0960-0760(96)00095-7. J Steroid Biochem Mol Biol. 1996. PMID: 8918984
Hyperechogenic fetal bowel: counseling difficulties.
Marcus-Soekarman D, Offermans J, Van den Ouweland AM, Mulder AL, Muntjewerff N, Vossen M, Kleijer W, Schrander-Stumpel C, Dooijes D. Marcus-Soekarman D, et al. Eur J Med Genet. 2005 Oct-Dec;48(4):421-5. doi: 10.1016/j.ejmg.2005.05.001. Eur J Med Genet. 2005. PMID: 16378926
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.
209 results