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Page 1
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Elfferich P, Verleun-Mooijman MC, Maat-Kievit JA, van de Warrenburg BP, Abdo WF, Eshuis SA, Leenders KL, Hovestadt A, Zijlmans JC, Stroy JP, van Swieten JC, Boon AJ, van Engelen K, Verschuuren-Bemelmans CC, Lesnik-Oberstein SA, Tassorelli C, Lopiano L, Bonifati V, Dooijes D, van Minkelen R. Elfferich P, et al. Among authors: verleun mooijman mc. Neurogenetics. 2011 Nov;12(4):263-71. doi: 10.1007/s10048-011-0302-9. Epub 2011 Oct 13. Neurogenetics. 2011. PMID: 21993715 Free PMC article.
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: verleun mooijman mc. 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
A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.
Ris-Stalpers C, Hoogenboezem T, Sleddens HF, Verleun-Mooijman MC, Degenhart HJ, Drop SL, Halley DJ, Oosterwijk JC, Hodgins MB, Trapman J, et al. Ris-Stalpers C, et al. Among authors: verleun mooijman mc. Pediatr Res. 1994 Aug;36(2):227-34. doi: 10.1203/00006450-199408000-00015. Pediatr Res. 1994. PMID: 7970939
Genotype versus phenotype in families with androgen insensitivity syndrome.
Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SL. Boehmer AL, et al. Among authors: verleun mooijman mc. J Clin Endocrinol Metab. 2001 Sep;86(9):4151-60. doi: 10.1210/jcem.86.9.7825. J Clin Endocrinol Metab. 2001. PMID: 11549642 Free article.