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Results: 1 to 20 of 31

1.

RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.

Akilzhanova A, Guelly C, Nuralinov O, Nurkina Z, Nazhat D, Smagulov S, Tursunbekov A, Alzhanova A, Rashbayeva G, Abdrakhmanov A, Dosmagambet S, Trajanoski S, Zhumadilov Z, Sharman A, Bekbosynova M.

PLoS One. 2014 Jun 30;9(6):e101059. doi: 10.1371/journal.pone.0101059. eCollection 2014.

2.

Hypoxia increases membrane metallo-endopeptidase expression in a novel lung cancer ex vivo model - role of tumor stroma cells.

Leithner K, Wohlkoenig C, Stacher E, Lindenmann J, Hofmann NA, Gallé B, Guelly C, Quehenberger F, Stiegler P, Smolle-Jüttner FM, Philipsen S, Popper HH, Hrzenjak A, Olschewski A, Olschewski H.

BMC Cancer. 2014 Jan 25;14:40. doi: 10.1186/1471-2407-14-40.

3.

Cross-platform microarray meta-analysis for the mouse jejunum selects novel reference genes with highly uniform levels of expression.

Meyer FR, Grausgruber H, Binter C, Mair GE, Guelly C, Vogl C, Steinborn R.

PLoS One. 2013 May 9;8(5):e63125. doi: 10.1371/journal.pone.0063125. Print 2013.

4.

Chordoma characterization of significant changes of the DNA methylation pattern.

Rinner B, Weinhaeusel A, Lohberger B, Froehlich EV, Pulverer W, Fischer C, Meditz K, Scheipl S, Trajanoski S, Guelly C, Leithner A, Liegl B.

PLoS One. 2013;8(3):e56609. doi: 10.1371/journal.pone.0056609. Epub 2013 Mar 22.

5.

Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases.

Rinner B, Gallè B, Trajanoski S, Fischer C, Hatz M, Maierhofer T, Michelitsch G, Moinfar F, Stelzer I, Pfragner R, Guelly C.

BMC Genomics. 2012 Nov 5;13:594. doi: 10.1186/1471-2164-13-594.

6.

TRPV4 mutations in children with congenital distal spinal muscular atrophy.

Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C.

Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25.

PMID:
22526352
7.

Accession-specific haplotypes of the internal transcribed spacer region in Arabidopsis thaliana--a means for barcoding populations.

Simon UK, Trajanoski S, Kroneis T, Sedlmayr P, Guelly C, Guttenberger H.

Mol Biol Evol. 2012 Sep;29(9):2231-9. doi: 10.1093/molbev/mss093. Epub 2012 Mar 14.

8.

Establishment and detailed functional and molecular genetic characterisation of a novel sacral chordoma cell line, MUG-Chor1.

Rinner B, Froehlich EV, Buerger K, Knausz H, Lohberger B, Scheipl S, Fischer C, Leithner A, Guelly C, Trajanoski S, Szuhai K, Liegl B.

Int J Oncol. 2012 Feb;40(2):443-51. doi: 10.3892/ijo.2011.1235. Epub 2011 Oct 14.

PMID:
22002331
9.

Alterations in lipid metabolism mediate inflammation, fibrosis, and proliferation in a mouse model of chronic cholestatic liver injury.

Moustafa T, Fickert P, Magnes C, Guelly C, Thueringer A, Frank S, Kratky D, Sattler W, Reicher H, Sinner F, Gumhold J, Silbert D, Fauler G, Höfler G, Lass A, Zechner R, Trauner M.

Gastroenterology. 2012 Jan;142(1):140-151.e12. doi: 10.1053/j.gastro.2011.09.051. Epub 2011 Oct 14.

PMID:
22001865
10.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.

Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A.

Neurology. 2011 Aug 9;77(6):540-8. doi: 10.1212/WNL.0b013e318228fc70. Epub 2011 Jul 13.

11.

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

Auer-Grumbach M, Weger M, Fink-Puches R, Papić L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C.

Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15.

12.

Evaluation of mutations in the isocitrate dehydrogenase genes in therapy-related and secondary acute myeloid leukaemia identifies a patient with clonal evolution to IDH2 R172K homozygosity due to uniparental disomy.

Pichler MM, Bodner C, Fischer C, Deutsch AJ, Hiden K, Beham-Schmid C, Linkesch W, Guelly C, Sill H, Wölfler A.

Br J Haematol. 2011 Mar;152(5):669-72. doi: 10.1111/j.1365-2141.2010.08404.x. Epub 2011 Jan 20. No abstract available.

PMID:
21250968
13.

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

Guelly C, Zhu PP, Leonardis L, Papić L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M.

Am J Hum Genet. 2011 Jan 7;88(1):99-105. doi: 10.1016/j.ajhg.2010.12.003. Epub 2010 Dec 30.

14.

The dermoscopical and histopathological patterns of nevi correlate with the frequency of BRAF mutations.

Zalaudek I, Guelly C, Pellacani G, Hofmann-Wellenhof R, Trajanoski S, Kittler H, Scope A, Marghoob AA, Longo C, Leinweber B, Ferrara G, Saida T, Grichnik JM, Argenziano G, Becker JC.

J Invest Dermatol. 2011 Feb;131(2):542-5. doi: 10.1038/jid.2010.332. Epub 2010 Nov 11. No abstract available.

15.

The impact of PCR-generated recombination on diversity estimation of mixed viral populations by deep sequencing.

Görzer I, Guelly C, Trajanoski S, Puchhammer-Stöckl E.

J Virol Methods. 2010 Oct;169(1):248-52. doi: 10.1016/j.jviromet.2010.07.040. Epub 2010 Aug 4.

PMID:
20691210
16.

Octamer-binding factor 6 (Oct-6/Pou3f1) is induced by interferon and contributes to dsRNA-mediated transcriptional responses.

Hofmann E, Reichart U, Gausterer C, Guelly C, Meijer D, Müller M, Strobl B.

BMC Cell Biol. 2010 Aug 5;11:61. doi: 10.1186/1471-2121-11-61.

17.

Deep sequencing reveals highly complex dynamics of human cytomegalovirus genotypes in transplant patients over time.

Görzer I, Guelly C, Trajanoski S, Puchhammer-Stöckl E.

J Virol. 2010 Jul;84(14):7195-203. doi: 10.1128/JVI.00475-10. Epub 2010 May 12.

18.

Loss of PTEN/MMAC1 activity is a rare and late event in the pathogenesis of nephroblastomas.

Grill C, Guelly C, Ebner B, Leuschner I, Hauser-Kronberger C, Hoefler G, Guertl B.

Hum Pathol. 2010 Aug;41(8):1172-7. doi: 10.1016/j.humpath.2009.10.024. Epub 2010 Apr 8.

PMID:
20381115
19.

Replicative senescence-associated gene expression changes in mesenchymal stromal cells are similar under different culture conditions.

Schallmoser K, Bartmann C, Rohde E, Bork S, Guelly C, Obenauf AC, Reinisch A, Horn P, Ho AD, Strunk D, Wagner W.

Haematologica. 2010 Jun;95(6):867-74. doi: 10.3324/haematol.2009.011692. Epub 2010 Jan 6.

20.

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C.

Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.

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