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APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations.
Shen J, van den Bogaard EH, Kouwenhoven EN, Bykov VJ, Rinne T, Zhang Q, Tjabringa GS, Gilissen C, van Heeringen SJ, Schalkwijk J, van Bokhoven H, Wiman KG, Zhou H. Shen J, et al. Among authors: gilissen c. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2157-62. doi: 10.1073/pnas.1201993110. Epub 2013 Jan 25. Proc Natl Acad Sci U S A. 2013. PMID: 23355676 Free PMC article.
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: gilissen c. 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.
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
Khandelwal KD, Ishorst N, Zhou H, Ludwig KU, Venselaar H, Gilissen C, Thonissen M, van Rooij IA, Dreesen K, Steehouwer M, van de Vorst M, Bloemen M, van Beusekom E, Roosenboom J, Borstlap W, Admiraal R, Dormaar T, Schoenaers J, Vander Poorten V, Hens G, Verdonck A, Bergé S, Roeleveldt N, Vriend G, Devriendt K, Brunner HG, Mangold E, Hoischen A, van Bokhoven H, Carels CE. Khandelwal KD, et al. Among authors: gilissen c. J Dent Res. 2017 Feb;96(2):179-185. doi: 10.1177/0022034516678829. Epub 2016 Nov 13. J Dent Res. 2017. PMID: 27834299
Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Khandelwal KD, van den Boogaard MH, Mehrem SL, Gebel J, Fagerberg C, van Beusekom E, van Binsbergen E, Topaloglu O, Steehouwer M, Gilissen C, Ishorst N, van Rooij IALM, Roeleveld N, Christensen K, Schoenaers J, Bergé S, Murray JC, Hens G, Devriendt K, Ludwig KU, Mangold E, Hoischen A, Zhou H, Dötsch V, Carels CEL, van Bokhoven H. Khandelwal KD, et al. Among authors: gilissen c. Eur J Hum Genet. 2019 Jul;27(7):1101-1112. doi: 10.1038/s41431-019-0370-0. Epub 2019 Mar 8. Eur J Hum Genet. 2019. PMID: 30850703 Free PMC article. Clinical Trial.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Roscioli T, et al. Among authors: gilissen c. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253. Nat Genet. 2012. PMID: 22522421 Free PMC article.
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H. Kleefstra T, et al. Among authors: gilissen c. Am J Hum Genet. 2012 Jul 13;91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003. Epub 2012 Jun 21. Am J Hum Genet. 2012. PMID: 22726846 Free PMC article.
Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.
Hoebel AK, Drichel D, van de Vorst M, Böhmer AC, Sivalingam S, Ishorst N, Klamt J, Gölz L, Alblas M, Maaser A, Keppler K, Zink AM, Dixon MJ, Dixon J, Hemprich A, Kruse T, Graf I, Dunsche A, Schmidt G, Daratsianos N, Nowak S, Aldhorae KA, Nöthen MM, Knapp M, Thiele H, Gilissen C, Reutter H, Hoischen A, Mangold E, Ludwig KU. Hoebel AK, et al. Among authors: gilissen c. J Dent Res. 2017 Oct;96(11):1314-1321. doi: 10.1177/0022034517722761. Epub 2017 Aug 2. J Dent Res. 2017. PMID: 28767323
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jablonska J, Rydzanicz M, Stawiński P, Ciara E, Khan MI, Henkes A, Hoischen A, Gilissen C, van de Vorst M, Cremers FPM, Płoski R, Chrzanowska KH. Tracewska AM, et al. Among authors: gilissen c. Genes (Basel). 2019 Nov 21;10(12):959. doi: 10.3390/genes10120959. Genes (Basel). 2019. PMID: 31766579 Free PMC article.
Extending the allelic spectrum at noncoding risk loci of orofacial clefting.
Thieme F, Henschel L, Hammond NL, Ishorst N, Hausen J, Adamson AD, Biedermann A, Bowes J, Zieger HK, Maj C, Kruse T, Buness A, Hoischen A, Gilissen C, Kreusch T, Jäger A, Gölz L, Braumann B, Aldhorae K, Rojas-Martinez A, Krawitz PM, Mangold E, Dixon MJ, Ludwig KU. Thieme F, et al. Among authors: gilissen c. Hum Mutat. 2021 Aug;42(8):1066-1078. doi: 10.1002/humu.24219. Epub 2021 Jun 3. Hum Mutat. 2021. PMID: 34004033
256 results