Journal Article (51)

21.
Journal Article
Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K. et al.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.: Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet 88 (1), pp. 70 - 5 (2011)
22.
Journal Article
Kohler, S.; Bauer, S.; Mungall, C. J.; Carletti, G.; Smith, C. L.; Schofield, P.; Gkoutos, G. V.; Robinson, P. N.: Improving ontologies by automatic reasoning and evaluation of logical definitions. BMC Bioinformatics 12, p. 418 (2011)
23.
Journal Article
Kolanczyk, M.; Mautner, V.; Kossler, N.; Nguyen, R.; Kuhnisch, J.; Zemojtel, T.; Jamsheer, A.; Wegener, E.; Thurisch, B.; Tinschert, S. et al.; Holtkamp, N.; Park, S. J.; Birch, P.; Kendler, D.; Harder, A.; Mundlos, S.; Kluwe, L.: MIA is a potential biomarker for tumour load in neurofibromatosis type 1. BMC Med 9, p. 82 (2011)
24.
Journal Article
Kolanczyk, M.; Pech, M.; Zemojte, T.; Yamamoto, H.; Mikula, I.; Calvaruso, M.-A.; van den Brand, M.; Richter, R.; Fischer, B.; Ritz, A. et al.; Kossler, N.; Thurisch, B.; Spoerle, R.; Smeitink, J.; Kornak, U.; Chan, D.; Vingron, M.; Martasek, P.; Lightowlers, R. N.; Nijtmans, L.; Schuelke, M.; Nierhaus, K. H.; Mundlos, S.: NOA1 is an essential GTPase required for mitochondrial protein synthesis. Molecular Biology of the Cell 22 (1), pp. 1 - 11 (2011)
25.
Journal Article
Kornak, U.: Animal models with pathological mineralization phenotypes. Joint Bone Spine 78 (6), pp. 561 - 7 (2011)
26.
Journal Article
Kortum, F.; Das, S.; Flindt, M.; Morris-Rosendahl, D. J.; Stefanova, I.; Goldstein, A.; Horn, D.; Klopocki, E.; Kluger, G.; Martin, P. et al.; Rauch, A.; Roumer, A.; Saitta, S.; Walsh, L. E.; Wieczorek, D.; Uyanik, G.; Kutsche, K.; Dobyns, W. B.: The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 48 (6), pp. 396 - 406 (2011)
27.
Journal Article
Kossler, N.; Stricker, S.; Rodelsperger, C.; Robinson, P. N.; Kim, J.; Dietrich, C.; Osswald, M.; Kuhnisch, J.; Stevenson, D. A.; Braun, T. et al.; Mundlos, S.; Kolanczyk, M.: Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 20 (14), pp. 2697 - 709 (2011)
28.
Journal Article
Lange, C.; Li, C.; Manjubala, I.; Wagermaier, W.; Kuhnisch, J.; Kolanczyk, M.; Mundlos, S.; Knaus, P.; Fratzl, P.: Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite. J Struct Biol 176 (2), pp. 159 - 67 (2011)
29.
Journal Article
Leushacke, M.; Sporle, R.; Bernemann, C.; Brouwer-Lehmitz, A.; Fritzmann, J.; Theis, M.; Buchholz, F.; Herrmann, B. G.; Morkel, M.: An RNA interference phenotypic screen identifies a role for FGF signals in colon cancer progression. PLoS ONE 6 (8), p. e23381 - e23381 (2011)
30.
Journal Article
Lindblom, A.; Robinson, P. N.: Bioinformatics for human genetics: promises and challenges. Hum Mutat 32 (5), pp. 495 - 500 (2011)
31.
Journal Article
Liu, Z.; Fusi, A.; Klopocki, E.; Schmittel, A.; Tinhofer, I.; Nonnenmacher, A.; Keilholz, U.: Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients. J Transl Med 9, p. 70 (2011)
32.
Journal Article
Marchal, J. A.; Ghani, M.; Schindler, D.; Gavvovidis, I.; Winkler, T.; Esquitino, V.; Sternberg, N.; Busche, A.; Krawitz, P.; Hecht, J. et al.; Robinson, P.; Mundlos, S.; Graul-Neumann, L.; Sperling, K.; Trimborn, M.; Neitzel, H.: Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Cell Cycle 10 (17), pp. 2967 - 77 (2011)
33.
Journal Article
Mohamed, M.; Kouwenberg, D.; Gardeitchik, T.; Kornak, U.; Wevers, R. A.; Morava, E.: Metabolic cutis laxa syndromes. J Inherit Metab Dis 34 (4), pp. 907 - 16 (2011)
34.
Journal Article
Morava, E.; Kuhnisch, J.; Drijvers, J. M.; Robben, J. H.; Cremers, C.; van Setten, P.; Branten, A.; Stumpp, S.; de Jong, A.; Voesenek, K. et al.; Vermeer, S.; Heister, A.; Claahsen-van der Grinten, H. L.; O'Neill, C. W.; Willemsen, M. A.; Lefeber, D.; Deen, P. M.; Kornak, U.; Kremer, H.; Wevers, R. A.: Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab 96 (1), pp. E189 - 98 (2011)
35.
Journal Article
Ott, C. E.; Grunhagen, J.; Jager, M.; Horbelt, D.; Schwill, S.; Kallenbach, K.; Guo, G.; Manke, T.; Knaus, P.; Mundlos, S. et al.; Robinson, P. N.: MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS ONE 6 (1), p. e16250 (2011)
36.
Journal Article
Pangrazio, A.; Cassani, B.; Guerrini, M. M.; Crockett, J. C.; Marrella, V.; Zammataro, L.; Strina, D.; Schulz, A.; Schlack, C.; Kornak, U. et al.; Mellis, D. J.; Duthie, A.; Helfrich, M. H.; Durandy, A.; Moshous, D.; Vellodi, A.; Chiesa, R.; Veys, P.; Iacono, N. L.; Vezzoni, P.; Fischer, A.; Villa, A.; Sobacchi, C.: RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. J Bone Miner Res (2011)
37.
Journal Article
Robinson, P. N.; Krawitz, P.; Mundlos, S.: Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet 80 (2), pp. 127 - 32 (2011)
38.
Journal Article
Rodelsperger, C.; Guo, G.; Kolanczyk, M.; Pletschacher, A.; Kohler, S.; Bauer, S.; Schulz, M. H.; Robinson, P. N.: Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Res 39 (7), pp. 2492 - 502 (2011)
39.
Journal Article
Rodelsperger, C.; Krawitz, P.; Bauer, S.; Hecht, J.; Bigham, A. W.; Bamshad, M.; de Condor, B. J.; Schweiger, M. R.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 27 (6), pp. 829 - 36 (2011)
40.
Journal Article
Rodelsperger, C.; Krawitz, P.; Bauer, S.; Hecht, J.; Bigham, A. W.; Bamshad, M.; de Condor, B. J.; Schweiger, M. R.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 27 (6), pp. 829 - 36 (2011)
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