Fryns JP - Search Results

1

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.

de Ravel TJ, Taylor IB, Van Oostveldt AJ, Fryns JP, Wilkie AO. de Ravel TJ, et al. Among authors: fryns jp. Eur J Hum Genet. 2005 Apr;13(4):503-5. doi: 10.1038/sj.ejhg.5201325. Eur J Hum Genet. 2005. PMID: 15523492

2

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.

3

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

4

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.

5

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

6

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

Dimitrov B, Balikova I, de Ravel T, Van Esch H, De Smedt M, Baten E, Vermeesch JR, Bradinova I, Simeonov E, Devriendt K, Fryns JP, Debeer P. Dimitrov B, et al. Among authors: fryns jp. J Med Genet. 2011 Feb;48(2):98-104. doi: 10.1136/jmg.2010.079491. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068127

7

An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter-->18q12.2.

de Ravel TJ, Matthijs G, Fryns J. de Ravel TJ, et al. Ann Genet. 2001 Apr-Jun;44(2):63-6. doi: 10.1016/s0003-3995(01)01045-0. Ann Genet. 2001. PMID: 11522242

8

The ICF syndrome: new case and update.

De Ravel TJ, Deckers E, Alliet PL, Petit P, Fryns JP. De Ravel TJ, et al. Among authors: fryns jp. Genet Couns. 2001;12(4):379-85. Genet Couns. 2001. PMID: 11837609 Review.

9

Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation.

de Ravel TJ, Fryns JP, Van Driessche J, Vermeesch JR. de Ravel TJ, et al. Among authors: fryns jp. Am J Med Genet A. 2004 Jan 30;124A(3):259-62. doi: 10.1002/ajmg.a.20372. Am J Med Genet A. 2004. PMID: 14708098

10

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P. Dimitrov BI, et al. Among authors: fryns jp. J Med Genet. 2010 Feb;47(2):103-11. doi: 10.1136/jmg.2008.065888. Epub 2009 Jul 6. J Med Genet. 2010. PMID: 19584065

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