Ott CE - Search Results

1

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U. Fischer B, et al. Among authors: ott ce. Mol Genet Metab. 2014 Aug;112(4):310-6. doi: 10.1016/j.ymgme.2014.05.003. Epub 2014 May 21. Mol Genet Metab. 2014. PMID: 24913064

2

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. Klopocki E, et al. Among authors: ott ce. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21. Am J Hum Genet. 2007. PMID: 17236129 Free PMC article.

3

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K. Michalk A, et al. Among authors: ott ce. Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006. Am J Hum Genet. 2008. PMID: 18252226 Free PMC article.

4

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA. Brunetti-Pierri N, et al. Among authors: ott ce. Am J Med Genet A. 2008 Nov 1;146A(21):2804-9. doi: 10.1002/ajmg.a.32530. Am J Med Genet A. 2008. PMID: 18831060

5

Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts.

Ott CE, Bauer S, Manke T, Ahrens S, Rödelsperger C, Grünhagen J, Kornak U, Duda G, Mundlos S, Robinson PN. Ott CE, et al. J Bone Miner Res. 2009 Jul;24(7):1247-62. doi: 10.1359/jbmr.090206. J Bone Miner Res. 2009. PMID: 19257815 Free article.

6

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Dathe K, Kjaer KW, Brehm A, Meinecke P, Nürnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S. Dathe K, et al. Among authors: ott ce. Am J Hum Genet. 2009 Apr;84(4):483-92. doi: 10.1016/j.ajhg.2009.03.001. Epub 2009 Mar 26. Am J Hum Genet. 2009. PMID: 19327734 Free PMC article.

7

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

Köhler S, Schulz MH, Krawitz P, Bauer S, Dölken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN. Köhler S, et al. Among authors: ott ce. Am J Hum Genet. 2009 Oct;85(4):457-64. doi: 10.1016/j.ajhg.2009.09.003. Am J Hum Genet. 2009. PMID: 19800049 Free PMC article.

8

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Ott CE, et al. Hum Mutat. 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298. Hum Mutat. 2010. PMID: 20648631

9

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites.

Ott CE, Grünhagen J, Jäger M, Horbelt D, Schwill S, Kallenbach K, Guo G, Manke T, Knaus P, Mundlos S, Robinson PN. Ott CE, et al. PLoS One. 2011 Jan 31;6(1):e16250. doi: 10.1371/journal.pone.0016250. PLoS One. 2011. PMID: 21305018 Free PMC article.

10

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing.

Jäger M, Ott CE, Grünhagen J, Hecht J, Schell H, Mundlos S, Duda GN, Robinson PN, Lienau J. Jäger M, et al. Among authors: ott ce. BMC Genomics. 2011 Mar 24;12:158. doi: 10.1186/1471-2164-12-158. BMC Genomics. 2011. PMID: 21435219 Free PMC article.

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