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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. Wieczorek D, et al. Among authors: devriendt k. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1. Hum Mol Genet. 2013. PMID: 23906836 Free article.
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Lüdecke HJ, et al. Among authors: devriendt k. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112658 Free PMC article.
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: devriendt k. 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.
The causality of de novo copy number variants is overestimated.
Vermeesch JR, Balikova I, Schrander-Stumpel C, Fryns JP, Devriendt K. Vermeesch JR, et al. Among authors: devriendt k. Eur J Hum Genet. 2011 Nov;19(11):1112-3. doi: 10.1038/ejhg.2011.83. Epub 2011 May 18. Eur J Hum Genet. 2011. PMID: 21587321 Free PMC article. No abstract available.
Array-based approaches in prenatal diagnosis.
Brady PD, Devriendt K, Deprest J, Vermeesch JR. Brady PD, et al. Among authors: devriendt k. Methods Mol Biol. 2012;838:151-71. doi: 10.1007/978-1-61779-507-7_7. Methods Mol Biol. 2012. PMID: 22228011
590 results