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Results: 1 to 20 of 29

1.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278. No abstract available.

2.

Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient.

Kobus K, Hartl D, Ott CE, Osswald M, Huebner A, von der Hagen M, Emmerich D, Kühnisch J, Morreau H, Hes FJ, Mautner VF, Harder A, Tinschert S, Mundlos S, Kolanczyk M.

PLoS One. 2015 Mar 16;10(3):e0119030. doi: 10.1371/journal.pone.0119030. eCollection 2015.

3.

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson PN, Vingron M, Tinschert S, Mundlos S, Kolanczyk M.

Eur J Hum Genet. 2014 Oct 8. doi: 10.1038/ejhg.2014.210. [Epub ahead of print]

PMID:
25293717
4.

Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models.

Kühnisch J, Seto J, Lange C, Stumpp S, Kobus K, Grohmann J, Elefteriou F, Fratzl P, Mundlos S, Kolanczyk M.

Bone. 2014 Sep;66:155-62. doi: 10.1016/j.bone.2014.06.012. Epub 2014 Jun 17.

PMID:
24947449
5.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11.

PMID:
24916641
6.

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.

PLoS One. 2014 Jan 21;9(1):e86115. doi: 10.1371/journal.pone.0086115. eCollection 2014.

7.

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.

Hum Mol Genet. 2014 Mar 1;23(5):1250-9. doi: 10.1093/hmg/ddt515. Epub 2013 Oct 24.

8.

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S.

J Med Genet. 2013 Sep;50(9):579-84. doi: 10.1136/jmedgenet-2013-101659. Epub 2013 May 24.

PMID:
23709756
9.

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.

J Pediatr Orthop. 2013 Apr-May;33(3):269-75. doi: 10.1097/BPO.0b013e31828121b8. Review.

PMID:
23482262
10.

Deterioration of fracture healing in the mouse model of NF1 long bone dysplasia.

El Khassawna T, Toben D, Kolanczyk M, Schmidt-Bleek K, Koennecke I, Schell H, Mundlos S, Duda GN.

Bone. 2012 Oct;51(4):651-60. doi: 10.1016/j.bone.2012.07.011. Epub 2012 Jul 31.

PMID:
22868293
11.

The transcription factor c-Maf controls touch receptor development and function.

Wende H, Lechner SG, Cheret C, Bourane S, Kolanczyk ME, Pattyn A, Reuter K, Munier FL, Carroll P, Lewin GR, Birchmeier C.

Science. 2012 Mar 16;335(6074):1373-6. doi: 10.1126/science.1214314. Epub 2012 Feb 16.

12.

Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite.

Lange C, Li C, Manjubala I, Wagermaier W, Kühnisch J, Kolanczyk M, Mundlos S, Knaus P, Fratzl P.

J Struct Biol. 2011 Nov;176(2):159-67. doi: 10.1016/j.jsb.2011.08.003. Epub 2011 Aug 10.

PMID:
21855638
13.

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.

BMC Med. 2011 Jul 4;9:82. doi: 10.1186/1741-7015-9-82.

14.

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.

Hum Mol Genet. 2011 Jul 15;20(14):2697-709. doi: 10.1093/hmg/ddr149. Epub 2011 Apr 9.

15.

NOA1 is an essential GTPase required for mitochondrial protein synthesis.

Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, van den Brand M, Richter R, Fischer B, Ritz A, Kossler N, Thurisch B, Spoerle R, Smeitink J, Kornak U, Chan D, Vingron M, Martasek P, Lightowlers RN, Nijtmans L, Schuelke M, Nierhaus KH, Mundlos S.

Mol Biol Cell. 2011 Jan 1;22(1):1-11. doi: 10.1091/mbc.E10-07-0643. Epub 2010 Nov 30.

16.

Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions.

Rödelsperger C, Guo G, Kolanczyk M, Pletschacher A, Köhler S, Bauer S, Schulz MH, Robinson PN.

Nucleic Acids Res. 2011 Apr;39(7):2492-502. doi: 10.1093/nar/gkq1081. Epub 2010 Nov 24.

17.

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.

Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S.

BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110.

18.

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.

Am J Med Genet A. 2009 Oct;149A(10):2327-38. doi: 10.1002/ajmg.a.33045. Review.

PMID:
19764036
19.

Duplication of fgfr1 permits Fgf signaling to serve as a target for selection during domestication.

Rohner N, Bercsényi M, Orbán L, Kolanczyk ME, Linke D, Brand M, Nüsslein-Volhard C, Harris MP.

Curr Biol. 2009 Oct 13;19(19):1642-7. doi: 10.1016/j.cub.2009.07.065. Epub 2009 Sep 3.

20.

The Spt-Ada-Gcn5-acetyltransferase complex interaction motif of E2a is essential for a subset of transcriptional and oncogenic properties of E2a-Pbx1.

Scheele JS, Kolanczyk M, Gantert M, Zemojtel T, Dorn A, Sykes DB, Möbest DC, Kamps MP, Räpple D.

Leuk Lymphoma. 2009 May;50(5):816-28. doi: 10.1080/10428190902836107. Erratum in: Leuk Lymphoma. 2009 Jul;50(7):1235. Duchniewicz, Marlena [removed]. Leuk Lymphoma. 2009 Nov;50(11):1904. Sykes, David P [corrected to Sykes, David B].

PMID:
19399691
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