Mundlos S - Search Results

1

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.

Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Krüger U, Hecht J, Mundlos S, Robinson PN. Ehmke N, et al. Among authors: mundlos s. Am J Med Genet A. 2014 Dec;164A(12):3170-5. doi: 10.1002/ajmg.a.36772. Epub 2014 Oct 20. Am J Med Genet A. 2014. PMID: 25331754 Review.

2

A single amphioxus and sea urchin runt-gene suggests that runt-gene duplications occurred in early chordate evolution.

Stricker S, Poustka AJ, Wiecha U, Stiege A, Hecht J, Panopoulou G, Vilcinskas A, Mundlos S, Seitz V. Stricker S, et al. Among authors: mundlos s. Dev Comp Immunol. 2003 Sep;27(8):673-84. doi: 10.1016/s0145-305x(03)00037-5. Dev Comp Immunol. 2003. PMID: 12798364

3

Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.

Robinson PN, Böhme U, Lopez R, Mundlos S, Nürnberg P. Robinson PN, et al. Among authors: mundlos s. Hum Mol Genet. 2004 Sep 1;13(17):1969-78. doi: 10.1093/hmg/ddh207. Epub 2004 Jul 14. Hum Mol Genet. 2004. PMID: 15254011

4

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.

Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S. Albrecht AN, et al. Among authors: mundlos s. Hum Mol Genet. 2004 Oct 15;13(20):2351-9. doi: 10.1093/hmg/ddh277. Epub 2004 Aug 27. Hum Mol Genet. 2004. PMID: 15333588

5

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome.

Booms P, Pregla R, Ney A, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, Robinson PN. Booms P, et al. Among authors: mundlos s. Hum Genet. 2005 Jan;116(1-2):51-61. doi: 10.1007/s00439-004-1194-7. Epub 2004 Oct 23. Hum Genet. 2005. PMID: 15517394

6

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.

7

A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis.

Booms P, Ney A, Barthel F, Moroy G, Counsell D, Gille C, Guo G, Pregla R, Mundlos S, Alix AJ, Robinson PN. Booms P, et al. Among authors: mundlos s. J Mol Cell Cardiol. 2006 Feb;40(2):234-46. doi: 10.1016/j.yjmcc.2005.11.009. J Mol Cell Cardiol. 2006. PMID: 16442122

8

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

9

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.

10

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S. Hoffmann K, et al. Among authors: mundlos s. Am J Hum Genet. 2006 Aug;79(2):303-12. doi: 10.1086/506257. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826520 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

404 results

Search Page

Filters