Zeitschriftenartikel (1119)

921.
Zeitschriftenartikel
Xue, Y.; Chen, Y.; Ayub, Q.; Huang, N.; Ball, E. V.; Mort, M.; Phillips, A. D.; Shaw, K.; Stenson, P. D.; Cooper, D. N. et al.; Tyler-Smith, C.; The 1000 Genomes Project Consortium; Timmermann, B.; Lehrach, H.; Herwig, R.: Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing. The American Journal of Human Genetics 91 (6), S. 1022 - 1031 (2012)
922.
Zeitschriftenartikel
Bulk, E.; Yu, J.; Hascher, A.; Koschmieder, S.; Wiewrodt, R.; Krug, U.; Timmermann, B.; Marra, A.; Hillejan, L.; Wiebe, K. et al.; Berdel, W. E.; Schwab, A.; Müller-Tidow, C.: Mutations of the EPHB6 receptor tyrosine kinase induce a pro-metastatic phenotype in non-small cell lung cancer. PLoS One 7 (12), e44591 (2012)
923.
Zeitschriftenartikel
Haghighi, A.; Nikuei, P.; Haghighi-Kakhki, H.; N, H. S.-G.; Baghestani, S.; Krawitz, P. M.; Hecht, J.; Mundlos, S.: Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis. British Journal of Dermatology 2012, S. e - e (2012)
924.
Zeitschriftenartikel
Gonzalez-Perez, P.; Lu, Y. B.; Chian, R. J.; Sapp, P. C.; Tanzi, R. E.; Bertram, L.; McKenna-Yasek, D.; Gao, F. B.; Brown, R. H.: Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. Neurobiology of Disease 48 (3), S. 391 - 398 (2012)
925.
Zeitschriftenartikel
Lim, B. N.; Choong, Y. S.; Ismail, A.; Glökler, J.; Konthur, Z.; Lim, T. S.: Directed evolution of nucleotide-based libraries using lambda exonuclease. Biotechniques 53 (6), S. 357 - 364 (2012)
926.
Zeitschriftenartikel
Pennimpede, T.; Proske, J.; Koenig, A.; Vidigal, J. A.; Morkel, M.; Bramsen, J. B.; Herrmann, B. G.; Wittler, L.: In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. Developmental Biology 372 (1), S. 55 - 67 (2012)
927.
Zeitschriftenartikel
Türkmen, S.; Timmermann, B.; Bartels, G.; Gröger, D.; Meyer, C.; Schwartz, S.; Haferlach, C.; Rieder, H.; Gökbuget, N.; Hoelzer, D. et al.; Marschalek, R.; Burmeister, T.: Involvement of the MLL gene in adult T-lymphoblastic leukemia. Genes, Chromosomes and Cancer 51 (12), S. 1114 - 1124 (2012)
928.
Zeitschriftenartikel
van Delft, J.; Gaj, S.; Lienhard, M.; Albrecht, M.; Kirpiy, A.; Brauers, K.; Claessen, S.; Lizarraga, D.; Lehrach, H.; Herwig, R. et al.; Kleinjans, J.: RNA-Seq provides new insights in the transcriptome responses induced by the carcinogen benzo[a]pyrene. Toxicological Sciences 130 (2), S. 427 - 439 (2012)
929.
Zeitschriftenartikel
Makrantonaki, E.; Brink, T.; Zampeli, V.; Elewa, R. M.; Mlody, B.; Hossini, A. M.; Hermes, B.; Krause, U.; Knolle, J.; Abdallah, M. et al.; Adjaye, J.; Zouboulis, C. C.: Identification of biomarkers of human skin ageing in both genders. Wnt signalling - a label of skin ageing? PLoS One 7 (11), S. e50393 (2012)
930.
Zeitschriftenartikel
Villavicencio-Lorini, P.; Klopocki, E.; Trimborn, M.; Koll, R.; Mundlos, S.; Horn, D.: Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 2012, S. e - e (2012)
931.
Zeitschriftenartikel
Kähler, C.; Isensee, J.; Nonhoff, U.; Terrey, M.; Hucho, T.; Lehrach, H.; Krobitsch, S.: Ataxin-2-like is a regulator of stress granules and processing bodies. PLoS One 7 (11), S. e50134 - e50134 (2012)
932.
Zeitschriftenartikel
Farrall, A.; Riemer, P.; Leushacke, M.; Sreekumar, A.; Grimm, C.; Hermann, B. G.; Morkel, M.: Wnt and BMP signals control intestinal adenoma cell fates. International Journal of Cancer 131 (10), S. 2242 - 2252 (2012)
933.
Zeitschriftenartikel
Vowinckel, J.; Stahlberg, S.; Paulmann, N.; Bluemlein, K.; Grohmann, M.; Ralser, M.; Walther, D. J.: Histaminylation of glutamine residues is a novel posttranslational modification implicated in G-protein signaling. FEBS Letters 586 (21), S. 3819 - 3824 (2012)
934.
Zeitschriftenartikel
Abecasis, G. R.; Auton, A.; Brooks, L. D.; DePristo, M. A.; Durbin, R. M.; Handsaker, R. E.; Kang, H. M.; Marth, G. T.; McVean, G. A.; The 1000 Genomes Project Consortium et al.; Sudbrak, R.; Albrecht, M.; Amstislavskiy, V.; Borodina, T. A.; Davydov, A.; Herwig, R.; Lienhard, M.; Mertes, F.; Sultan, M.; Timmermann, B.; Yaspo, M. L.; Lehrach, H.: An integrated map of genetic variation from 1,092 human genomes. Nature 491 (7422), S. 56 - 65 (2012)
935.
Zeitschriftenartikel
Bluemlein, K.; Glückmann, M.; Grüning, N.-M.; Feichtinger, R.; Krueger, A.; Wamelink6,, M.; Lehrach, H.; Tate, S.; Neureiter, D.; Kofler, B. et al.; Ralser, M.: Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis. Oncotarget 3 (11), S. 1356 - 1356 (2012)
936.
Zeitschriftenartikel
Bluemlein, K.; Glückmann, M.; Grüning, N.-M.; Feichtinger, R.; Krüger, A.; Wamelink, M.; Lehrach, H.; Tate, S.; Neureiter, D.; Kofler, B. et al.; Ralser, M.: Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis. Oncotarget 3 (11), S. 1356 - 1369 (2012)
937.
Zeitschriftenartikel
Börno, S.; Fischer, A.; Kerick, M.; Falth, M.; Laible, M.; Brase, J. C.; Kuner, R.; Dahl, A.; Grimm, C.; Sayanjali, B. et al.; Isau, M.; Röhr, C.; Wunderlich, A.; Timmermann, B.; Claus, R.; Plass, C.; Graefen, M.; Simon, R.; Demichelis, F.; Rubin, M. A.; Sauter, G.; Schlomm, T.; Sültmann, H.; Lehrach, H.; Schweiger, M. R.: Genome-wide DNA methylation events in TMPRSS2-ERG fusion-negative prostate cancers implicate an EZH2-dependent mechanism with miR-26a hypermethylation. Cancer Discovery 2 (11), S. 1024 - 1035 (2012)
938.
Zeitschriftenartikel
Fischer, B.; Dimopoulou, A.; Egerer, J.; Gardeitchik, T.; Kidd, A.; Jost, D.; Kayserili, H.; Alanay, Y.; Tantcheva-Poor, I.; Mangold, E. et al.; Daumer-Haas, C.; Phadke, S.; Peirano, R. I.; Heusel, J.; Desphande, C.; Gupta, N.; Nanda, A.; Felix, E.; Berry-Kravis, E.; Kabra, M.; Wevers, R. A.; van Maldergem, L.; Mundlos, S.; Morava, E.; Kornak, U.: Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Human Genetics 131 (11), S. 1761 - 1773 (2012)
939.
Zeitschriftenartikel
Hucho, T.; Suckow, V.; Joseph, E. K.; Kuhn, J.; Schmoranzer, J.; Dina, O. A.; Chen, X.; Karst, M.; Bernateck, M.; Levine, J. D. et al.; Ropers, H.-H.: Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli. Journal of Neurochemistry: official journal of the International Society for Neurochemistry 123 (4), S. 589 - 601 (2012)
940.
Zeitschriftenartikel
Sharma, M.; Ioannidis, J. P.; Aasly, J. O.; Annesi, G.; Brice, A.; Bertram, L.; Bozi, M.; Barcikowska, M.; Crosiers, D.; Clarke, C. E. et al.; Facheris, M. F.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilarino-Guell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B. S.; Jamrozik, Z.; Krygowska-Wajs, A.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Libioulle, C.; Murata, M.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Meitnger, T.; Zimprich, A.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Strom, T. M.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Van Broeckhoven, C.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yomono, H. S.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Krüger, R.: A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Journal of Medical Genetics (London) 49 (11), S. 721 - 726 (2012)
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