Mundlos S - Search Results

1

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Stange K, Ott CE, Schmidt-von Kegler M, Gillesen-Kaesbach G, Mundlos S, Dathe K, Seemann P. Stange K, et al. Among authors: mundlos s. J Hum Genet. 2015 Aug;60(8):419-25. doi: 10.1038/jhg.2015.48. Epub 2015 May 21. J Hum Genet. 2015. PMID: 25994865

2

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S. Schwabe GC, et al. Among authors: mundlos s. Am J Hum Genet. 2000 Oct;67(4):822-31. doi: 10.1086/303084. Epub 2000 Sep 12. Am J Hum Genet. 2000. PMID: 10986040 Free PMC article.

3

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.

4

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.

5

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.

6

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S. Woods CG, et al. Among authors: mundlos s. Am J Hum Genet. 2006 Aug;79(2):402-8. doi: 10.1086/506332. Epub 2006 Jun 23. Am J Hum Genet. 2006. PMID: 16826533 Free PMC article.

7

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

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

Multiple roles for neurofibromin in skeletal development and growth.

Kolanczyk M, Kossler N, Kühnisch J, Lavitas L, Stricker S, Wilkening U, Manjubala I, Fratzl P, Spörle R, Herrmann BG, Parada LF, Kornak U, Mundlos S. Kolanczyk M, et al. Among authors: mundlos s. Hum Mol Genet. 2007 Apr 15;16(8):874-86. doi: 10.1093/hmg/ddm032. Epub 2007 Feb 22. Hum Mol Genet. 2007. PMID: 17317783

10

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.

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