Mundlos S - Search Results

1

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S. Lupiáñez DG, et al. Among authors: mundlos s. Cell. 2015 May 21;161(5):1012-1025. doi: 10.1016/j.cell.2015.04.004. Epub 2015 May 7. Cell. 2015. PMID: 25959774 Free PMC article.

2

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.

Niedermaier M, Schwabe GC, Fees S, Helmrich A, Brieske N, Seemann P, Hecht J, Seitz V, Stricker S, Leschik G, Schrock E, Selby PB, Mundlos S. Niedermaier M, et al. Among authors: mundlos s. J Clin Invest. 2005 Apr;115(4):900-9. doi: 10.1172/JCI23675. J Clin Invest. 2005. PMID: 15841179 Free PMC article.

3

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

Tufan F, Cefle K, Türkmen S, Türkmen A, Zorba U, Dursun M, Oztürk S, Palandüz S, Ecder T, Mundlos S, Horn D. Tufan F, et al. Among authors: mundlos s. Am J Med Genet A. 2005 Jul 15;136(2):185-9. doi: 10.1002/ajmg.a.30785. Am J Med Genet A. 2005. PMID: 15952209

4

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Among authors: mundlos s. Am J Med Genet A. 2006 Apr 15;140(8):873-7. doi: 10.1002/ajmg.a.31163. Am J Med Genet A. 2006. PMID: 16528753

5

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep.

Hecht J, Kuhl H, Haas SA, Bauer S, Poustka AJ, Lienau J, Schell H, Stiege AC, Seitz V, Reinhardt R, Duda GN, Mundlos S, Robinson PN. Hecht J, et al. Among authors: mundlos s. BMC Genomics. 2006 Jul 5;7:172. doi: 10.1186/1471-2164-7-172. BMC Genomics. 2006. PMID: 16822315 Free PMC article.

6

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Among authors: mundlos s. Eur J Hum Genet. 2006 Dec;14(12):1274-9. doi: 10.1038/sj.ejhg.5201696. Epub 2006 Aug 9. Eur J Hum Genet. 2006. PMID: 16896345

7

Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment.

Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S, Robinson PN. Guo G, et al. Among authors: mundlos s. Circulation. 2006 Oct 24;114(17):1855-62. doi: 10.1161/CIRCULATIONAHA.105.601674. Epub 2006 Oct 9. Circulation. 2006. PMID: 17030689

8

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

Castori M, Brancati F, Mingarelli R, Mundlos S, Dallapiccola B. Castori M, et al. Among authors: mundlos s. Am J Med Genet A. 2007 Jan 15;143A(2):195-9. doi: 10.1002/ajmg.a.31433. Am J Med Genet A. 2007. PMID: 17163524

9

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: mundlos s. 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.

10

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R. Klopocki E, et al. Among authors: mundlos s. Eur J Pediatr. 2008 Aug;167(8):903-8. doi: 10.1007/s00431-007-0616-7. Epub 2007 Oct 12. Eur J Pediatr. 2008. PMID: 17932688 Free PMC article.

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