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The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
Farkas K, Deák BK, Sánchez LC, Martínez AM, Corell JJ, Botella AM, Benito GM, López RR, Vanecek T, Kazakov DV, Kromosoeto JN, van den Ouweland AM, Varga J, Széll M, Nagy N. Farkas K, et al. Among authors: van den ouweland am. BMC Genet. 2016 Feb 9;17:36. doi: 10.1186/s12863-016-0346-9. BMC Genet. 2016. PMID: 26861065 Free PMC article.
Identification of Familial Adenomatous Polyposis carriers among children with desmoid tumours.
Kattentidt Mouravieva AA, Geurts-Giele IR, de Krijger RR, van Noesel MM, van de Ven CP, van den Ouweland AM, Kromosoeto JN, Dinjens WN, Dubbink HJ, Smits R, Wagner A. Kattentidt Mouravieva AA, et al. Among authors: van noesel mm, van den ouweland am, van de ven cp. Eur J Cancer. 2012 Aug;48(12):1867-74. doi: 10.1016/j.ejca.2012.01.004. Epub 2012 Feb 2. Eur J Cancer. 2012. PMID: 22305464
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
van den Ouweland AM, Elfferich P, Lamping R, van de Graaf R, van Veghel-Plandsoen MM, Franken SM, Houweling AC. van den Ouweland AM, et al. Among authors: van veghel plandsoen mm, van de graaf r. Fam Cancer. 2011 Mar;10(1):127-32. doi: 10.1007/s10689-010-9393-y. Fam Cancer. 2011. PMID: 20972631 Free PMC article.
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
Vrtel R, Verhoef S, Bouman K, Maheshwar MM, Nellist M, van Essen AJ, Bakker PL, Hermans CJ, Bink-Boelkens MT, van Elburg RM, Hoff M, Lindhout D, Sampson J, Halley DJ, van den Ouweland AM. Vrtel R, et al. Among authors: van essen aj, van den ouweland am, van elburg rm. J Med Genet. 1996 Jan;33(1):47-51. doi: 10.1136/jmg.33.1.47. J Med Genet. 1996. PMID: 8825048 Free PMC article.
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
Leenen CH, Geurts-Giele WR, Dubbink HJ, Reddingius R, van den Ouweland AM, Tops CM, van de Klift HM, Kuipers EJ, van Leerdam ME, Dinjens WN, Wagner A. Leenen CH, et al. Among authors: van de klift hm, van den ouweland am, van leerdam me. Clin Genet. 2011 Dec;80(6):558-65. doi: 10.1111/j.1399-0004.2010.01608.x. Epub 2011 Jan 13. Clin Genet. 2011. PMID: 21204794
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
van den Ouweland AM, Elfferich P, Zonnenberg BA, Arts WF, Kleefstra T, Nellist MD, Millan JM, Withagen-Hermans C, Maat-Kievit AJ, Halley DJ. van den Ouweland AM, et al. Eur J Hum Genet. 2011 Feb;19(2):157-63. doi: 10.1038/ejhg.2010.156. Epub 2010 Sep 29. Eur J Hum Genet. 2011. PMID: 20877415 Free PMC article.
278 results