Mundlos S - Search Results

1

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

Degenkolbe E, Schwarz C, Ott CE, König J, Schmidt-Bleek K, Ellinghaus A, Schmidt T, Lienau J, Plöger F, Mundlos S, Duda GN, Willie BM, Seemann P. Degenkolbe E, et al. Among authors: mundlos s. Bone. 2015 Apr;73:111-9. doi: 10.1016/j.bone.2014.12.017. Epub 2014 Dec 24. Bone. 2015. PMID: 25543012

2

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S. Lehmann K, et al. Among authors: mundlos s. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82. doi: 10.1073/pnas.2133476100. Epub 2003 Oct 1. Proc Natl Acad Sci U S A. 2003. PMID: 14523231 Free PMC article.

3

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.

4

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S. Seemann P, et al. Among authors: mundlos s. J Clin Invest. 2005 Sep;115(9):2373-81. doi: 10.1172/JCI25118. Epub 2005 Aug 25. J Clin Invest. 2005. PMID: 16127465 Free PMC article.

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

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

Lehmann K, Seemann P, Boergermann J, Morin G, Reif S, Knaus P, Mundlos S. Lehmann K, et al. Among authors: mundlos s. Eur J Hum Genet. 2006 Dec;14(12):1248-54. doi: 10.1038/sj.ejhg.5201708. Epub 2006 Sep 6. Eur J Hum Genet. 2006. PMID: 16957682

7

Endochondral ossification in vitro is influenced by mechanical bending.

Trepczik B, Lienau J, Schell H, Epari DR, Thompson MS, Hoffmann JE, Kadow-Romacker A, Mundlos S, Duda GN. Trepczik B, et al. Among authors: mundlos s. Bone. 2007 Mar;40(3):597-603. doi: 10.1016/j.bone.2006.10.011. Epub 2006 Nov 30. Bone. 2007. PMID: 17141595

8

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.

9

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. Lehmann K, et al. Among authors: mundlos s. Am J Hum Genet. 2007 Aug;81(2):388-96. doi: 10.1086/519697. Epub 2007 Jun 8. Am J Hum Genet. 2007. PMID: 17668388 Free PMC article.

10

Brachydactyly type A2 associated with a defect in proGDF5 processing.

Plöger F, Seemann P, Schmidt-von Kegler M, Lehmann K, Seidel J, Kjaer KW, Pohl J, Mundlos S. Plöger F, et al. Among authors: mundlos s. Hum Mol Genet. 2008 May 1;17(9):1222-33. doi: 10.1093/hmg/ddn012. Epub 2008 Jan 18. Hum Mol Genet. 2008. PMID: 18203755

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