Fryns JP - Search Results

1

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

Utine EG, Alanay Y, Aktas D, Alikasifoglu M, Boduroglu K, Vermeesch J, Tuncbilek E, Fryns JP. Utine EG, et al. Among authors: fryns jp. Eur J Med Genet. 2008 Jul-Aug;51(4):343-50. doi: 10.1016/j.ejmg.2008.03.002. Epub 2008 Mar 27. Eur J Med Genet. 2008. PMID: 18440888

2

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

3

Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1-->q27).

Vermeesch JR, Fryns JP. Vermeesch JR, et al. Among authors: fryns jp. Am J Med Genet A. 2003 Jul 15;120A(2):299-300. doi: 10.1002/ajmg.a.20029. Am J Med Genet A. 2003. PMID: 12833421 No abstract available.

4

A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings.

Van Buggenhout G, Maas NM, Fryns JP, Vermeesch JR. Van Buggenhout G, et al. Among authors: fryns jp. Am J Med Genet A. 2004 Dec 1;131(2):186-9. doi: 10.1002/ajmg.a.20679. Am J Med Genet A. 2004. PMID: 15523640

5

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

Vermeesch JR, Melotte C, Salden I, Riegel M, Trifnov V, Polityko A, Rumyantseva N, Naumchik I, Starke H, Matthijs G, Schinzel A, Fryns JP, Liehr T. Vermeesch JR, et al. Among authors: fryns jp. Eur J Med Genet. 2005 Jul-Sep;48(3):319-27. doi: 10.1016/j.ejmg.2005.04.018. Eur J Med Genet. 2005. PMID: 16179227

6

Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.

de Ravel T, Aerssens P, Vermeesch JR, Fryns JP. de Ravel T, et al. Among authors: fryns jp. Eur J Med Genet. 2005 Jul-Sep;48(3):355-9. doi: 10.1016/j.ejmg.2005.05.009. Eur J Med Genet. 2005. PMID: 16179232

7

25 Mb deletion of 13q13.3-->q21.31 in a patient without retinoblastoma.

Thienpont B, Vermeesch JR, Fryns JP. Thienpont B, et al. Among authors: fryns jp. Eur J Med Genet. 2005 Jul-Sep;48(3):363-6. doi: 10.1016/j.ejmg.2005.05.008. Eur J Med Genet. 2005. PMID: 16179234 No abstract available.

8

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.

Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernandez ML, Martínez-Frías ML, Fryns JP, Vermeesch JR. Chabchoub E, et al. Among authors: fryns jp. J Med Genet. 2007 Apr;44(4):250-6. doi: 10.1136/jmg.2006.045476. Epub 2006 Dec 15. J Med Genet. 2007. PMID: 17172463 Free PMC article.

9

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.

10

The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: fryns jp. J Med Genet. 2007 Sep;44(9):562-9. doi: 10.1136/jmg.2007.049510. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586838 Free PMC article.

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