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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L. De Baere E, et al. Among authors: fryns jp. Am J Hum Genet. 2003 Feb;72(2):478-87. doi: 10.1086/346118. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529855 Free PMC article.
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.
Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Beysen D, et al. Among authors: fryns jp. Am J Hum Genet. 2005 Aug;77(2):205-18. doi: 10.1086/432083. Epub 2005 Jun 16. Am J Hum Genet. 2005. PMID: 15962237 Free PMC article.
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
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, Vetrie D, Fiegler H, Carter NP, Liehr T, Vikkula M, Matthijs G, Fryns JP, Casteels I, Devriendt K, Vermeesch JR. Balikova I, et al. Among authors: fryns jp. Am J Hum Genet. 2008 Jan;82(1):181-7. doi: 10.1016/j.ajhg.2007.08.001. Am J Hum Genet. 2008. PMID: 18179897 Free PMC article.
Glypican 1 gene: good candidate for brachydactyly type E.
Syrrou M, Keymolen K, Devriendt K, Holvoet M, Thoelen R, Verhofstadt K, Fryns JP. Syrrou M, et al. Among authors: fryns jp. Am J Med Genet. 2002 Apr 1;108(4):310-4. doi: 10.1002/ajmg.10266. Am J Med Genet. 2002. PMID: 11920836
1,311 results