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Page 1
Interstitial deletion of 6q without phenotypic effect.
Hansson K, Szuhai K, Knijnenburg J, van Haeringen A, de Pater J. Hansson K, et al. Among authors: knijnenburg j. Am J Med Genet A. 2007 Jun 15;143A(12):1354-7. doi: 10.1002/ajmg.a.31783. Am J Med Genet A. 2007. PMID: 17506100
A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C. Hoffer MJ, et al. Among authors: knijnenburg j. Eur J Med Genet. 2007 Mar-Apr;50(2):149-54. doi: 10.1016/j.ejmg.2006.11.004. Epub 2006 Dec 8. Eur J Med Genet. 2007. PMID: 17223398
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP. Lugtenberg D, et al. Among authors: knijnenburg j. Am J Med Genet A. 2010 Mar;152A(3):638-45. doi: 10.1002/ajmg.a.33292. Am J Med Genet A. 2010. PMID: 20186789
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents.
Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van Haeringen A, Szuhai K, Tanke HJ. Rosenberg C, et al. Among authors: knijnenburg j. J Med Genet. 2006 Feb;43(2):180-6. doi: 10.1136/jmg.2005.032268. Epub 2005 Jun 24. J Med Genet. 2006. PMID: 15980116 Free PMC article.
Another rare prenatal case of post-zygotic mosaic trisomy 17.
de Vries FA, Govaerts LC, Knijnenburg J, Knapen MF, Oudesluijs GG, Lont D, Noomen P, de Graaff K, Srebniak MI, Van Opstal D. de Vries FA, et al. Among authors: knijnenburg j. Am J Med Genet A. 2013 May;161A(5):1196-9. doi: 10.1002/ajmg.a.35867. Epub 2013 Mar 20. Am J Med Genet A. 2013. PMID: 23512336 No abstract available.
78 results