High-ranking Publications
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Dirk J. Lefeber, Arjan P. M. de Brouwer, Eva Morava, Moniek Riemersma, Janneke H. M. Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M. R. van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grunewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A. Wevers Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation. PLoS Genetics, 10 December 2011 Volume 7, Issue 12, 1002427
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Adriaan G. Holleboom, Helen Karlsson, Ruei-Shiuan Lin, Thomas M. Beres, Jeroen A. Sierts, Daniel S. Herman, Erik S.G. Stroes, Johannes M. Aerts, John J.P. Kastelein, Mohammad M. Motazacker, Geesje M. Dallinga-Thie, Johannes H.M. Levels, Aeilko H. Zwinderman, Jonathan G. Seidman, Christine E. Seidman, Stefan Ljunggren, Dirk J. Lefeber, Eva Morava, Ron A. Wevers, Timothy A. Fritz, Lawrence A. Tabak, Mats Lindahl, G. Kees Hovingh, Jan Albert Kuivenhoven. Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man. Cell Metabolism, Volume 14, Issue 6, 811-818, 7 December 2011
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Jessica Nouws, Leo G. J. Nijtmans, Jan A. Smeitink, and Rutger O. Vogel. Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. Brain (2011) first published online October 27, 2011
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Marjan J. Smeulders, Thomas R. M. Barends, Arjan Pol, Anna Scherer, Marcel H. Zandvoort, Anikó Udvarhelyi, Ahmad F. Khadem, Andreas Menzel, John Hermans, Robert L. Shoeman, Hans J. C. T. Wessels, Lambert P. van den Heuvel, Lina Russ, Ilme Schlichting, Mike S. M. Jetten, Huub J. M. Op den Camp.Evolution of a new enzyme for carbon disulphide conversion by an acidothermophilic archaeon. Nature 478,412–416.19 October 2011.
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Boran Kartal, Wouter J. Maalcke, Naomi M. de Almeida, Irina Cirpus, Jolein Gloerich, Wim Geerts, Huub J. M. Op den Camp, Harry R. Harhangi, Eva M. Janssen-Megens, Kees-Jan Francoijs, Hendrik G. Stunnenberg, Jan T. Keltjens, Mike S. M. Jetten, Marc Strous. Molecular mechanism of anaerobic ammonium oxidation. Nature 2011; 02 October 2011
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van den Broek L, Backx AP, Coolen H, Wijburg FA, Wevers R, Morava E, Neeleman C. Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I. Pediatrics. 2011 127:1343-6
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Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Ounap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H. FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol. 2011 Aug 3. read more..
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Alexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, Christian Gilissen, Lisenka E L M Vissers, Petra de Vries, Irene Janssen, Bart van Lier, Rob Hastings, Sarah F Smithson, Ruth Newbury-Ecob, Susanne Kjaergaard, Judith Goodship, Ruth McGowan, Deborah Bartholdi, Anita Rauch, Maarit Peippo, Jan M Cobben, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Joris A Veltman, Han G Brunner, Bert B B A de Vries
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genetics Volume 43,Pages 729–731 2011 June 2011
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H.L. Claahsen-van der Grinten, N.M.M.L. Stikkelbroeck, B.J. Otten, A.R.M.M. Hermus
Congenital adrenal hyperplasia — Pharmacologic interventions from the prenatal
phase to adulthood. Pharmacology & Therapeutics May 2011. Article in Press
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Stanescu HC, Arcos-Burgos M, Medlar A, Bockenhauer D, Kottgen A, Dragomirescu
L, Voinescu C, Patel N, Pearce K, Hubank M, Stephens HA, Laundy V, Padmanabhan S,
Zawadzka A, Hofstra JM, Coenen MJ, den Heijer M, Kiemeney LA, Bacq-Daian D,
Stengel B, Powis SH, Brenchley P, Feehally J, Rees AJ, Debiec H, Wetzels JF,
Ronco P, Mathieson PW, Kleta R. Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med. 2011 Feb 17;364(7):616-26.
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Galesloot TE, Vermeulen SH, Geurts-Moespot AJ, Klaver SM, Kroot JJ, van Tienoven D, Wetzels JF, Kiemeney LA, Sweep FC, den Heijer M, Swinkels DW. Blood Journal 2011 Apr 28.
Serum hepcidin: reference ranges and biochemical correlates in the general population.
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Wanten G, Calder PC, Forbes A. Managing adult patients who need home parenteral nutrition.; British Medical Journal 2011 Mar 18;342:d1447.
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