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Page 1
Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.
van den Ouweland AM, Dinjens WN, Dorssers LC, van Veghel-Plandsoen MM, Brüggenwirth HT, Withagen-Hermans CJ, Collée JM, Joosse SA, Terlouw-Kromosoeto JN, Nederlof PM. van den Ouweland AM, et al. Among authors: bruggenwirth ht. Genet Test Mol Biomarkers. 2009 Jun;13(3):399-406. doi: 10.1089/gtmb.2008.0155. Genet Test Mol Biomarkers. 2009. PMID: 19405878
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Among authors: bruggenwirth ht. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782 Free PMC article.
Survival and prognostic factors in BRCA1-associated breast cancer.
Brekelmans CT, Seynaeve C, Menke-Pluymers M, Brüggenwirth HT, Tilanus-Linthorst MM, Bartels CC, Kriege M, van Geel AN, Crepin CM, Blom JC, Meijers-Heijboer H, Klijn JG. Brekelmans CT, et al. Among authors: bruggenwirth ht. Ann Oncol. 2006 Mar;17(3):391-400. doi: 10.1093/annonc/mdj095. Epub 2005 Dec 1. Ann Oncol. 2006. PMID: 16322115 Free article.
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, Halley DJ, Vos YJ, Hogervorst F, Ligtenberg M, Hofstra RM. van der Hout AH, et al. Hum Mutat. 2006 Jul;27(7):654-66. doi: 10.1002/humu.20340. Hum Mutat. 2006. PMID: 16683254
Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.
Nagel JH, Peeters JK, Smid M, Sieuwerts AM, Wasielewski M, de Weerd V, Trapman-Jansen AM, van den Ouweland A, Brüggenwirth H, van I Jcken WF, Klijn JG, van der Spek PJ, Foekens JA, Martens JW, Schutte M, Meijers-Heijboer H. Nagel JH, et al. Breast Cancer Res Treat. 2012 Apr;132(2):439-48. doi: 10.1007/s10549-011-1588-x. Epub 2011 May 26. Breast Cancer Res Treat. 2012. PMID: 21614566
Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.
van Bever Y, Wolffenbuttel KP, Brüggenwirth HT, Blom E, de Klein A, Eussen BHJ, van der Windt F, Hannema SE, Dessens AB, Dorssers LCJ, Biermann K, Hersmus R, de Rijke YB, Looijenga LHJ. van Bever Y, et al. Among authors: bruggenwirth ht. Sex Dev. 2018;12(1-3):145-154. doi: 10.1159/000479946. Epub 2017 Sep 20. Sex Dev. 2018. PMID: 28926831 Free PMC article.
Androgen receptor mutations.
Brinkmann AO, Jenster G, Ris-Stalpers C, van der Korput JA, Brüggenwirth HT, Boehmer AL, Trapman J. Brinkmann AO, et al. Among authors: bruggenwirth ht. J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):443-8. doi: 10.1016/0960-0760(95)00090-m. J Steroid Biochem Mol Biol. 1995. PMID: 7626493 Free article. Review.
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. 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
85 results