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Results: 1 to 20 of 27

1.

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
[PubMed - as supplied by publisher]
2.

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
[PubMed - in process]
3.

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, Emerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2014 Jun 11. doi: 10.1038/ejhg.2014.109. [Epub ahead of print]

PMID:
24916641
[PubMed - as supplied by publisher]
4.

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.

PMID:
24465906
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
24163128
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
22345400
[PubMed - indexed for MEDLINE]
Free Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
21726432
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
21478499
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
21118999
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
21109530
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
20618940
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
19733072
[PubMed - indexed for MEDLINE]
Free Article
18.

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
[PubMed - indexed for MEDLINE]
19.

PBX1 is dispensable for neural commitment of RA-treated murine ES cells.

Jürgens AS, Kolanczyk M, Moebest DC, Zemojtel T, Lichtenauer U, Duchniewicz M, Gantert MP, Hecht J, Hattenhorst U, Burdach S, Dorn A, Kamps MP, Beuschlein F, Räpple D, Scheele JS.

In Vitro Cell Dev Biol Anim. 2009 May-Jun;45(5-6):252-63. doi: 10.1007/s11626-008-9162-5. Epub 2009 Jan 16.

PMID:
19148706
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin.

Kolanczyk M, Kühnisch J, Kossler N, Osswald M, Stumpp S, Thurisch B, Kornak U, Mundlos S.

BMC Med. 2008 Jul 31;6:21. doi: 10.1186/1741-7015-6-21.

PMID:
18671844
[PubMed - indexed for MEDLINE]
Free PMC Article

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