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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. De Baere E, et al. Among authors: devriendt k. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277
Cohen syndrome: the clinical symptoms and stigmata at a young age.
Fryns JP, Legius E, Devriendt K, Meire F, Standaert L, Baten E, Van den Berghe H. Fryns JP, et al. Among authors: devriendt k. Clin Genet. 1996 May;49(5):237-41. doi: 10.1111/j.1399-0004.1996.tb03780.x. Clin Genet. 1996. PMID: 8832131
The annual incidence of DiGeorge/velocardiofacial syndrome.
Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. Devriendt K, et al. J Med Genet. 1998 Sep;35(9):789-90. doi: 10.1136/jmg.35.9.789-a. J Med Genet. 1998. PMID: 9733045 Free PMC article. No abstract available.
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W. Kohlhase J, et al. Among authors: devriendt k. Am J Hum Genet. 1999 Feb;64(2):435-45. doi: 10.1086/302238. Am J Hum Genet. 1999. PMID: 9973281 Free PMC article.
Partial DiGeorge syndrome in two patients with a 10p rearrangement.
Van Esch H, Groenen P, Daw S, Poffyn A, Holvoet M, Scambler P, Fryns JP, Van de Ven W, Devriendt K. Van Esch H, et al. Among authors: devriendt k. Clin Genet. 1999 Apr;55(4):269-76. doi: 10.1034/j.1399-0004.1999.550410.x. Clin Genet. 1999. PMID: 10361989
Occipital Horn syndrome in a 2-year-old boy.
De Paepe A, Loeys B, Devriendt K, Fryns JP. De Paepe A, et al. Among authors: devriendt k. Clin Dysmorphol. 1999 Jul;8(3):179-83. Clin Dysmorphol. 1999. PMID: 10457850
592 results