Fryns JP - Search Results

1

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

2

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.

3

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

4

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.

5

A male with two idic(Y)(q12) chromosomes: a distinct phenotype resembling the XXXY/XXXXY syndrome.

Maas NM, Vermeesch JR, Fryns JP. Maas NM, et al. Among authors: fryns jp. Am J Med Genet A. 2005 Oct 15;138A(3):294-6. doi: 10.1002/ajmg.a.30934. Am J Med Genet A. 2005. PMID: 16152650 No abstract available.

6

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

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

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.

9

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.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,311 results

Search Page

Filters