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Page 1
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
van de Beek I, Glykofridis IE, Tanck MWT, Luijten MNH, Starink TM, Balk JA, Johannesma PC, Hennekam E, van den Hoff MJB, Gunst QD, Gille JJP, Polstra AM, Postmus PE, van Steensel MAM, Postma AV, Wolthuis RMF, Menko FH, Houweling AC, Waisfisz Q. van de Beek I, et al. Among authors: houweling ac. J Hum Genet. 2023 Apr;68(4):273-279. doi: 10.1038/s10038-022-01113-1. Epub 2023 Jan 4. J Hum Genet. 2023. PMID: 36599954
Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus.
Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH, Kramer MT, Gille JJ, Waisfisz Q, Menko FH. Starink TM, et al. Among authors: houweling ac. J Am Acad Dermatol. 2012 Feb;66(2):259.e1-9. doi: 10.1016/j.jaad.2010.11.039. Epub 2011 Jul 26. J Am Acad Dermatol. 2012. PMID: 21794948
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH. Houweling AC, et al. Br J Cancer. 2011 Dec 6;105(12):1912-9. doi: 10.1038/bjc.2011.463. Br J Cancer. 2011. PMID: 22146830 Free PMC article.
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.
Menko FH, Johannesma PC, van Moorselaar RJ, Reinhard R, van Waesberghe JH, Thunnissen E, Houweling AC, Leter EM, Waisfisz Q, van Doorn MB, Starink TM, Postmus PE, Coull BJ, van Steensel MA, Gille JJ. Menko FH, et al. Among authors: houweling ac. Fam Cancer. 2013 Sep;12(3):373-9. doi: 10.1007/s10689-012-9593-8. Fam Cancer. 2013. PMID: 23264078
Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.
Johannesma PC, van de Beek I, van der Wel JW, Paul MA, Houweling AC, Jonker MA, van Waesberghe JH, Reinhard R, Starink TM, van Moorselaar RJ, Menko FH, Postmus PE. Johannesma PC, et al. Among authors: houweling ac. Springerplus. 2016 Sep 7;5(1):1506. doi: 10.1186/s40064-016-3009-4. eCollection 2016. Springerplus. 2016. PMID: 27652079 Free PMC article.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A. Overwater E, et al. Among authors: houweling ac. Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907982 Free PMC article.
Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome.
Johannesma PC, van de Beek I, van der Wel TJWT, Reinhard R, Rozendaal L, Starink TM, van Waesberghe JHTM, Horenblas S, Gille HJJP, Jonker MA, Meijers-Heijboer HEJ, Postmus PE, Houweling AC, van Moorselaar JRA. Johannesma PC, et al. Among authors: houweling ac. PLoS One. 2019 Mar 7;14(3):e0212952. doi: 10.1371/journal.pone.0212952. eCollection 2019. PLoS One. 2019. PMID: 30845233 Free PMC article.
127 results