Szuhai K - Search Results

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: szuhai k. 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

2

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. Cancer Genet Cytogenet. 2004 Aug;153(1):48-52. doi: 10.1016/j.cancergencyto.2003.12.012. Cancer Genet Cytogenet. 2004. PMID: 15325093

3

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: szuhai k. 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

4

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

5

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: szuhai k. 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.

6

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. Among authors: szuhai k. Nucleic Acids Res. 2005 Oct 12;33(18):e159. doi: 10.1093/nar/gni161. Nucleic Acids Res. 2005. PMID: 16221972 Free PMC article.

7

Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma.

Dijkman R, Tensen CP, Jordanova ES, Knijnenburg J, Hoefnagel JJ, Mulder AA, Rosenberg C, Raap AK, Willemze R, Szuhai K, Vermeer MH. Dijkman R, et al. Among authors: szuhai k. J Clin Oncol. 2006 Jan 10;24(2):296-305. doi: 10.1200/JCO.2005.02.0842. Epub 2005 Dec 5. J Clin Oncol. 2006. PMID: 16330669

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: szuhai k. Eur J Hum Genet. 2006 Feb;14(2):180-9. doi: 10.1038/sj.ejhg.5201540. Eur J Hum Genet. 2006. PMID: 16391556

9

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R. Courtens W, et al. Among authors: szuhai k. Am J Med Genet A. 2006 Mar 15;140(6):611-7. doi: 10.1002/ajmg.a.31122. Am J Med Genet A. 2006. PMID: 16470743 Review.

10

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

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