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Page 1
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.
Keupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, Alanay Y, Uz E, Elcioğlu N, Rachwalski M, Kamaci S, Tunçbilek G, Akin B, Grötzinger J, Konas E, Mavili E, Müller-Newen G, Collmann H, Roscioli T, Buckley MF, Yigit G, Gilissen C, Kress W, Veltman J, Hammerschmidt M, Akarsu NA, Wollnik B. Keupp K, et al. Among authors: rachwalski m. Mol Genet Genomic Med. 2013 Nov;1(4):223-37. doi: 10.1002/mgg3.28. Epub 2013 Aug 19. Mol Genet Genomic Med. 2013. PMID: 24498618 Free PMC article.
A mutation screen in patients with Kabuki syndrome.
Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B. Li Y, et al. Among authors: rachwalski m. Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24. Hum Genet. 2011. PMID: 21607748
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP. Laue K, et al. Among authors: rachwalski m. Am J Hum Genet. 2011 Nov 11;89(5):595-606. doi: 10.1016/j.ajhg.2011.09.015. Epub 2011 Oct 20. Am J Hum Genet. 2011. PMID: 22019272 Free PMC article.
Current concepts in cleft care: A multicenter analysis.
Thiele OC, Kreppel M, Dunsche A, Eckardt AM, Ehrenfeld M, Fleiner B, Gaßling V, Gehrke G, Gerressen M, Gosau M, Gröbe A, Haßfeld S, Heiland M, Hoffmeister B, Hölzle F, Klein C, Krüger M, Kübler AC, Kübler NR, Kuttenberger JJ, Landes C, Lauer G, Martini M, Merholz ET, Mischkowski RA, Al-Nawas B, Nkenke E, Piesold JU, Pradel W, Rasse M, Rachwalski M, Reich RH, Rothamel D, Rustemeyer J, Scheer M, Schliephake H, Schmelzeisen R, Schramm A, Schupp W, Spitzer WJ, Stocker E, Stoll C, Terheyden H, Voigt A, Wagner W, Weingart D, Werkmeister R, Wiltfang J, Ziegler CM, Zöller JE. Thiele OC, et al. Among authors: rachwalski m. J Craniomaxillofac Surg. 2018 Apr;46(4):705-708. doi: 10.1016/j.jcms.2018.01.014. Epub 2018 Feb 6. J Craniomaxillofac Surg. 2018. PMID: 29526412
26 results