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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.
Brady PD, Delle Chiaie B, Christenhusz G, Dierickx K, Van Den Bogaert K, Menten B, Janssens S, Defoort P, Roets E, Sleurs E, Keymolen K, De Catte L, Deprest J, de Ravel T, Van Esch H, Fryns JP, Devriendt K, Vermeesch JR. Brady PD, et al. Among authors: de ravel t, de catte l. Genet Med. 2014 Jun;16(6):469-76. doi: 10.1038/gim.2013.168. Epub 2013 Oct 31. Genet Med. 2014. PMID: 24177055 Free article.
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: de ravel t, de die smulders c. 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
Subtelomeric imbalances in phenotypically normal individuals.
Balikova I, Menten B, de Ravel T, Le Caignec C, Thienpont B, Urbina M, Doco-Fenzy M, de Rademaeker M, Mortier G, Kooy F, van den Ende J, Devriendt K, Fryns JP, Speleman F, Vermeesch JR. Balikova I, et al. Among authors: de rademaeker m, de ravel t. Hum Mutat. 2007 Oct;28(10):958-67. doi: 10.1002/humu.20537. Hum Mutat. 2007. PMID: 17492636
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.
Brison N, Van Den Bogaert K, Dehaspe L, van den Oever JM, Janssens K, Blaumeiser B, Peeters H, Van Esch H, Van Buggenhout G, Vogels A, de Ravel T, Legius E, Devriendt K, Vermeesch JR. Brison N, et al. Among authors: de ravel t. Genet Med. 2017 Mar;19(3):306-313. doi: 10.1038/gim.2016.113. Epub 2016 Sep 1. Genet Med. 2017. PMID: 27584908 Free article.
161 results