PMC Links for GEO Profiles (Select 50023720) - PMC

Select item 56020091.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Jacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, Marieke F van Dooren, A Jeannette M Hoogeboom, Christian Beetz, Sven Günther, Frank J Magielsen, Charlotte W Ockeloen, Maria A Ramos-Arroyo, Rolph Pfundt, Helger G Yntema, Peter J van der Spek, Philip Stanier, Dagmar Wieczorek, Andrew O M Wilkie, Ans M W van den Ouweland, Irene M J Mathijssen, Jane A Hurst

Eur J Hum Genet. 2017 Oct; 25(10): 1126–1133. Published online 2017 Jul 26. doi: 10.1038/ejhg.2017.107

PMCID:: PMC5602009

Abstract Article PDF–1.1M

Select item 42599692.

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, Daniela Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton-Smith, Sarah B. Daly, Simon G. Williams, Sanjeev S. Bhaskar, Jill E. Urquhart, Beverley Anderson, James O’Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J. van Essen, Filiz Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar R. Lohmann, Kerstin U. Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R. Lemke, Charles Marques Lourenco, Ute Hehr, Eva-Christina Prott, Melanie Waldenberger, Anne C. Böhmer, Bernhard Horsthemke, Raymond T. O’Keefe, Thomas Meitinger, John Burn, Hermann-Josef Lüdecke, Tim M. Strom

Am J Hum Genet. 2014 Dec 4; 95(6): 698–707. doi: 10.1016/j.ajhg.2014.10.014

PMCID:: PMC4259969

Abstract Article PDF–1.3M

Select item 31780593.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 24383824.

Minor spliceosome components are predominantly localized in the nucleus

Heli K. J. Pessa, Cindy L. Will, Xiaojuan Meng, Claudia Schneider, Nicholas J. Watkins, Nina Perälä, Mariann Nymark, Janne J. Turunen, Reinhard Lührmann, Mikko J. Frilander

Proc Natl Acad Sci U S A. 2008 Jun 24; 105(25): 8655–8660. Published online 2008 Jun 16. doi: 10.1073/pnas.0803646105

PMCID:: PMC2438382

Abstract Article PDF–1.1M

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