Tanke HJ - 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. Among authors: tanke hj. 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. Among authors: tanke hj. 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. Among authors: tanke hj. 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

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.

5

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: tanke hj. Hum Genet. 2005 Apr;116(5):390-4. doi: 10.1007/s00439-004-1248-x. Epub 2005 Feb 22. Hum Genet. 2005. PMID: 15726417

6

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: tanke hj. Hum Genet. 2006 Aug;120(1):77-84. doi: 10.1007/s00439-006-0185-2. Epub 2006 May 18. Hum Genet. 2006. PMID: 16708226

7

Detection and molecular cytogenetic characterization of a novel ring chromosome in a histological variant of Ewing sarcoma.

Szuhai K, IJszenga M, Tanke HJ, Taminiau AH, de Schepper A, van Duinen SG, Rosenberg C, Hogendoorn PC. Szuhai K, et al. Among authors: tanke hj. Cancer Genet Cytogenet. 2007 Jan 1;172(1):12-22. doi: 10.1016/j.cancergencyto.2006.07.007. Cancer Genet Cytogenet. 2007. PMID: 17175374

8

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: tanke hj. 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.

9

COBRA: combined binary ratio labeling of nucleic-acid probes for multi-color fluorescence in situ hybridization karyotyping.

Szuhai K, Tanke HJ. Szuhai K, et al. Among authors: tanke hj. Nat Protoc. 2006;1(1):264-75. doi: 10.1038/nprot.2006.41. Nat Protoc. 2006. PMID: 17406243

10

Optimized amplification and fluorescent labeling of small cell samples for genomic array-CGH.

Knijnenburg J, van der Burg M, Tanke HJ, Szuhai K. Knijnenburg J, et al. Among authors: tanke hj. Cytometry A. 2007 Aug;71(8):585-91. doi: 10.1002/cyto.a.20412. Cytometry A. 2007. PMID: 17458882 Free article.

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