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Page 1
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Bisschoff IJ, et al. Among authors: zeschnigk c. Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23033313 Free PMC article.
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Müller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F. Morris-Rosendahl DJ, et al. Among authors: zeschnigk c. Eur J Hum Genet. 2010 Oct;18(10):1100-6. doi: 10.1038/ejhg.2010.79. Epub 2010 May 26. Eur J Hum Genet. 2010. PMID: 20512159 Free PMC article.
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Morris-Rosendahl DJ, Najm J, Lachmeijer AM, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, Kutsche K, Uyanik G. Morris-Rosendahl DJ, et al. Among authors: zeschnigk c. Clin Genet. 2008 Nov;74(5):425-33. doi: 10.1111/j.1399-0004.2008.01093.x. Clin Genet. 2008. PMID: 18954413
Filamin A mutation is one cause of FG syndrome.
Unger S, Mainberger A, Spitz C, Bähr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ. Unger S, et al. Among authors: zeschnigk c. Am J Med Genet A. 2007 Aug 15;143A(16):1876-9. doi: 10.1002/ajmg.a.31751. Am J Med Genet A. 2007. PMID: 17632775
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J. Uyanik G, et al. Among authors: zeschnigk c. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. Neurology. 2007. PMID: 17664403