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Page 1
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.
Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Elefteriou F, et al. Among authors: kolanczyk m. Am J Med Genet A. 2009 Oct;149A(10):2327-38. doi: 10.1002/ajmg.a.33045. Am J Med Genet A. 2009. PMID: 19764036 Review.
Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium.
Stevenson DA, Little D, Armstrong L, Crawford AH, Eastwood D, Friedman JM, Greggi T, Gutierrez G, Hunter-Schaedle K, Kendler DL, Kolanczyk M, Monsell F, Oetgen M, Richards BS, Schindeler A, Schorry EK, Wilkes D, Viskochil DH, Yang FC, Elefteriou F. Stevenson DA, et al. Among authors: kolanczyk m. J Pediatr Orthop. 2013 Apr-May;33(3):269-75. doi: 10.1097/BPO.0b013e31828121b8. J Pediatr Orthop. 2013. PMID: 23482262 Review.
Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.
Kühnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, Grohmann J, Kossler N, Varga P, Osswald M, Emmerich D, Tinschert S, Thielemann F, Duda G, Seifert W, El Khassawna T, Stevenson DA, Elefteriou F, Kornak U, Raum K, Fratzl P, Mundlos S, Kolanczyk M. Kühnisch J, et al. Among authors: kolanczyk m. PLoS One. 2014 Jan 21;9(1):e86115. doi: 10.1371/journal.pone.0086115. eCollection 2014. PLoS One. 2014. PMID: 24465906 Free PMC article.
Neurofibromin (Nf1) is required for skeletal muscle development.
Kossler N, Stricker S, Rödelsperger C, Robinson PN, Kim J, Dietrich C, Osswald M, Kühnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M. Kossler N, et al. Among authors: kolanczyk m. Hum Mol Genet. 2011 Jul 15;20(14):2697-709. doi: 10.1093/hmg/ddr149. Epub 2011 Apr 9. Hum Mol Genet. 2011. PMID: 21478499 Free PMC article.
MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
Kolanczyk M, Mautner V, Kossler N, Nguyen R, Kühnisch J, Zemojtel T, Jamsheer A, Wegener E, Thurisch B, Tinschert S, Holtkamp N, Park SJ, Birch P, Kendler D, Harder A, Mundlos S, Kluwe L. Kolanczyk M, et al. BMC Med. 2011 Jul 4;9:82. doi: 10.1186/1741-7015-9-82. BMC Med. 2011. PMID: 21726432 Free PMC article.
NF1 is a critical regulator of muscle development and metabolism.
Sullivan K, El-Hoss J, Quinlan KG, Deo N, Garton F, Seto JT, Gdalevitch M, Turner N, Cooney GJ, Kolanczyk M, North KN, Little DG, Schindeler A. Sullivan K, et al. Among authors: kolanczyk m. Hum Mol Genet. 2014 Mar 1;23(5):1250-9. doi: 10.1093/hmg/ddt515. Epub 2013 Oct 24. Hum Mol Genet. 2014. PMID: 24163128 Free PMC article.
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. 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
31 results