Knijnenburg J - Search Results

1

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.

Knijnenburg J, Oberstein SA, Frei K, Lucas T, Gijsbers AC, Ruivenkamp CA, Tanke HJ, Szuhai K. Knijnenburg J, et al. J Med Genet. 2009 Jun;46(6):412-7. doi: 10.1136/jmg.2008.063685. Epub 2009 Feb 25. J Med Genet. 2009. PMID: 19246478

2

Insights from genomic microarrays into structural chromosome rearrangements.

Knijnenburg J, Szuhai K, Giltay J, Molenaar L, Sloos W, Poot M, Tanke HJ, Rosenberg C. Knijnenburg J, et al. Am J Med Genet A. 2005 Jan 1;132A(1):36-40. doi: 10.1002/ajmg.a.30378. Am J Med Genet A. 2005. PMID: 15558722

3

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K. Knijnenburg J, et al. Eur J Hum Genet. 2007 May;15(5):548-55. doi: 10.1038/sj.ejhg.5201807. Epub 2007 Mar 7. Eur J Hum Genet. 2007. PMID: 17342151

4

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.

5

Multicolor fluorescence in situ hybridization analysis of a synovial sarcoma of the larynx with a t(X;18)(p11.2;q11.2) and trisomies 2 and 8.

Szuhai K, Knijnenburg J, Ijszenga M, Tanke HJ, Baatenburg de Jong RJ, Bas Douwes Dekker P, Rosenberg C, Hogendoorn PC. Szuhai K, et al. Among authors: knijnenburg j. Cancer Genet Cytogenet. 2004 Aug;153(1):48-52. doi: 10.1016/j.cancergencyto.2003.12.012. Cancer Genet Cytogenet. 2004. PMID: 15325093

6

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.

Rosenberg C, Knijnenburg J, Chauffaille Mde L, Brunoni D, Catelani AL, Sloos W, Szuhai K, Tanke HJ. Rosenberg C, et al. Among authors: knijnenburg j. Hum Genet. 2005 Apr;116(5):390-4. doi: 10.1007/s00439-004-1248-x. Epub 2005 Feb 22. Hum Genet. 2005. PMID: 15726417

7

Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms.

Knijnenburg J, van der Burg M, Nilsson P, Ploos van Amstel HK, Tanke H, Szuhai K. Knijnenburg J, et al. Nucleic Acids Res. 2005 Oct 12;33(18):e159. doi: 10.1093/nar/gni161. Nucleic Acids Res. 2005. PMID: 16221972 Free PMC article.

8

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: knijnenburg j. Eur J Hum Genet. 2006 Feb;14(2):180-9. doi: 10.1038/sj.ejhg.5201540. Eur J Hum Genet. 2006. PMID: 16391556

9

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C. Kriek M, et al. Among authors: knijnenburg j. Hum Genet. 2006 Aug;120(1):77-84. doi: 10.1007/s00439-006-0185-2. Epub 2006 May 18. Hum Genet. 2006. PMID: 16708226

10

Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH.

Kriek M, Knijnenburg J, White SJ, Rosenberg C, den Dunnen JT, van Ommen GJ, Tanke HJ, Breuning MH, Szuhai K. Kriek M, et al. Among authors: knijnenburg j. Am J Med Genet A. 2007 Mar 15;143A(6):610-4. doi: 10.1002/ajmg.a.31593. Am J Med Genet A. 2007. PMID: 17318845 No abstract available.

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