Knijnenburg J - Search Results

1

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.

2

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

3

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

4

Chromosome imbalances in syndromic hearing loss.

Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Catelani AL, et al. Among authors: knijnenburg j. Clin Genet. 2009 Nov;76(5):458-64. doi: 10.1111/j.1399-0004.2009.01276.x. Epub 2009 Oct 6. Clin Genet. 2009. PMID: 19807740

5

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

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

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

Jehee FS, Rosenberg C, Krepischi-Santos AC, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. Jehee FS, et al. Among authors: knijnenburg j. Am J Med Genet A. 2005 Dec 15;139(3):221-6. doi: 10.1002/ajmg.a.30991. Am J Med Genet A. 2005. PMID: 16283679

8

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

9

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.

10

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

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