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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
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
Does parosteal liposarcoma differ from other atypical lipomatous tumors/well-differentiated liposarcomas? A molecular cytogenetic study using combined multicolor COBRA-FISH karyotyping and array-based comparative genomic hybridization.
Szuhai K, Ijszenga M, Knijnenburg J, Dijkstra S, de Schepper A, Tanke HJ, Hogendoorn PC. Szuhai K, et al. Among authors: knijnenburg j. Cancer Genet Cytogenet. 2007 Jul 15;176(2):115-20. doi: 10.1016/j.cancergencyto.2007.03.012. Cancer Genet Cytogenet. 2007. PMID: 17656253
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.
77 results