Fryns JP - Search Results

1

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

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

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

4

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.

5

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).

Balikova I, Vermeesch JR, Fryns JP, Van Esch H. Balikova I, et al. Among authors: fryns jp. Eur J Med Genet. 2009 Jul-Aug;52(4):260-1. doi: 10.1016/j.ejmg.2009.01.001. Epub 2009 Jan 14. Eur J Med Genet. 2009. PMID: 19272308

6

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion.

de Ravel T, Balikova I, Van Driessche J, Vermeesch J, Fryns JP. de Ravel T, et al. Among authors: fryns jp. Am J Med Genet A. 2009 Jun;149A(6):1315-6. doi: 10.1002/ajmg.a.32817. Am J Med Genet A. 2009. PMID: 19449408 No abstract available.

7

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Thienpont B, et al. Among authors: fryns jp. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14. J Med Genet. 2010. PMID: 19833603

8

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.

Backx L, Fryns JP, Marcelis C, Devriendt K, Vermeesch J, Van Esch H. Backx L, et al. Among authors: fryns jp. Am J Med Genet A. 2010 Feb;152A(2):319-26. doi: 10.1002/ajmg.a.33202. Am J Med Genet A. 2010. PMID: 20082458

9

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.

Dimitrov BI, Voet T, De Smet L, Vermeesch JR, Devriendt K, Fryns JP, Debeer P. Dimitrov BI, et al. Among authors: fryns jp. J Med Genet. 2010 Aug;47(8):569-74. doi: 10.1136/jmg.2009.073833. Epub 2010 Jul 7. J Med Genet. 2010. PMID: 20610440

10

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

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