Devriendt K - Search Results

1

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Bi W, et al. Among authors: devriendt k. Genome Res. 2002 May;12(5):713-28. doi: 10.1101/gr.73702. Genome Res. 2002. PMID: 11997338 Free PMC article.

2

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.

Thienpont B, Dimitriadou E, Theodoropoulos K, Breckpot J, Fryssira H, Kitsiou-Tzeli S, Tzoufi M, Vermeesch JR, Syrrou M, Devriendt K. Thienpont B, et al. Among authors: devriendt k. Eur J Med Genet. 2009 Nov-Dec;52(6):393-7. doi: 10.1016/j.ejmg.2009.09.005. Epub 2009 Sep 17. Eur J Med Genet. 2009. PMID: 19772953

3

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: devriendt k. 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

4

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.

Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL. Ockeloen CW, et al. Among authors: devriendt k. Genet Med. 2016 Nov;18(11):1158-1162. doi: 10.1038/gim.2016.10. Epub 2016 Mar 10. Genet Med. 2016. PMID: 26963285 Free PMC article.

5

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861 Free PMC article.

6

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: devriendt k. Am J Med Genet. 2002 Apr 1;108(4):310-4. doi: 10.1002/ajmg.10266. Am J Med Genet. 2002. PMID: 11920836

7

Chromosomal phenotypes and submicroscopic abnormalities.

Devriendt K, Vermeesch JR. Devriendt K, et al. Hum Genomics. 2004 Jan;1(2):126-33. doi: 10.1186/1479-7364-1-2-126. Hum Genomics. 2004. PMID: 15601540 Free PMC article. Review.

8

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.

Van Esch H, Hollanders K, Badisco L, Melotte C, Van Hummelen P, Vermeesch JR, Devriendt K, Fryns JP, Marynen P, Froyen G. Van Esch H, et al. Among authors: devriendt k. Hum Mol Genet. 2005 Jul 1;14(13):1795-803. doi: 10.1093/hmg/ddi186. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888481

9

Anterior cervical hypertrichosis and mental retardation.

Thienpont B, Vermeesch J, Devriendt K. Thienpont B, et al. Among authors: devriendt k. Clin Dysmorphol. 2006 Jul;15(3):189-190. doi: 10.1097/01.mcd.0000204988.39119.9d. Clin Dysmorphol. 2006. PMID: 16760744

10

Left-ventricular non-compaction in a patient with monosomy 1p36.

Thienpont B, Mertens L, Buyse G, Vermeesch JR, Devriendt K. Thienpont B, et al. Among authors: devriendt k. Eur J Med Genet. 2007 May-Jun;50(3):233-6. doi: 10.1016/j.ejmg.2007.01.002. Epub 2007 Jan 27. Eur J Med Genet. 2007. PMID: 17337261

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