Fryns JP - Search Results

1

Subtelomeric imbalances in phenotypically normal individuals.

Balikova I, Menten B, de Ravel T, Le Caignec C, Thienpont B, Urbina M, Doco-Fenzy M, de Rademaeker M, Mortier G, Kooy F, van den Ende J, Devriendt K, Fryns JP, Speleman F, Vermeesch JR. Balikova I, et al. Among authors: fryns jp. Hum Mutat. 2007 Oct;28(10):958-67. doi: 10.1002/humu.20537. Hum Mutat. 2007. PMID: 17492636

2

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

de Ravel TJ, Devriendt K, Fryns JP, Vermeesch JR. de Ravel TJ, et al. Among authors: fryns jp. Eur J Pediatr. 2007 Jul;166(7):637-43. doi: 10.1007/s00431-007-0463-6. Epub 2007 Mar 20. Eur J Pediatr. 2007. PMID: 17372759 Free article. Review.

3

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, Vermeesch JR, Devriendt K, Fryns JP, Marynen P. Froyen G, et al. Among authors: fryns jp. Hum Mutat. 2007 Oct;28(10):1034-42. doi: 10.1002/humu.20564. Hum Mutat. 2007. PMID: 17546640

4

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.

Michils G, Tejpar S, Thoelen R, van Cutsem E, Vermeesch JR, Fryns JP, Legius E, Matthijs G. Michils G, et al. Among authors: fryns jp. Hum Mutat. 2005 Feb;25(2):125-34. doi: 10.1002/humu.20122. Hum Mutat. 2005. PMID: 15643602

5

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.

Van Esch H, Hollanders K, Badisco L, Melotte C, Van Hummelen P, Vermeesch JR, Devriendt K, Fryns JP, Marynen P, Froyen G. Van Esch H, et al. Among authors: fryns jp. Hum Mol Genet. 2005 Jul 1;14(13):1795-803. doi: 10.1093/hmg/ddi186. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888481

6

Follow-up of adult males with chromosome 18p deletion.

de Ravel TJ, Thiry P, Fryns JP. de Ravel TJ, et al. Among authors: fryns jp. Eur J Med Genet. 2005 Apr-Jun;48(2):189-93. doi: 10.1016/j.ejmg.2005.01.024. Epub 2005 Feb 17. Eur J Med Genet. 2005. PMID: 16053911 Review.

7

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.

Le Caignec C, Swillen A, Van Asche E, Fryns JP, Vermeesch JR. Le Caignec C, et al. Among authors: fryns jp. Eur J Med Genet. 2005 Jul-Sep;48(3):339-45. doi: 10.1016/j.ejmg.2005.04.010. Eur J Med Genet. 2005. PMID: 16179229

8

Single-cell chromosomal imbalances detection by array CGH.

Le Caignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Debrock S, Staessen C, Moreau Y, Fryns JP, Van Steirteghem A, Liebaers I, Vermeesch JR. Le Caignec C, et al. Among authors: fryns jp. Nucleic Acids Res. 2006 May 12;34(9):e68. doi: 10.1093/nar/gkl336. Nucleic Acids Res. 2006. PMID: 16698960 Free PMC article.

9

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K. Thienpont B, et al. Among authors: fryns jp. Eur Heart J. 2007 Nov;28(22):2778-84. doi: 10.1093/eurheartj/ehl560. Epub 2007 Mar 23. Eur Heart J. 2007. PMID: 17384091

10

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K. Thienpont B, et al. Among authors: fryns jp. Eur J Hum Genet. 2007 Oct;15(10):1094-7. doi: 10.1038/sj.ejhg.5201878. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579672

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