Zeitschriftenartikel (1248)

1081.
Zeitschriftenartikel
Huang, L.; Jolly, L. A.; Willis-Owen, S.; Gardner, A.; Kumar, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M. et al.; Hackett, A.; Field, M.; Froyen, G.; Hu, H. C.; Haas, S.; Ropers, H.-H.; Kalscheuer, V. M.; Corbett, M. A.; Gecz, J.: A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics 91 (4), S. 694 - 702 (2012)
1082.
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Kämpjärvi, K.; Mäkinen, N.; Kilpivaara, O.; Arola, J.; Heinonen, H.-R.; Böhm, J.; Abdel-Wahab, O.; Lehtonen, H. J.; Pelttari, L. M.; Mehine, M. et al.; Schrewe, H.; Nevanlinna, H.; Levine, R. L.; Hokland, P.; Böhling, T.; Mecklin, J.-P.; Bützow, R.; Aaltonen, L. A.; Vahteristo, P.: Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer. British Journal of Cancer 107, S. 1761 - 1765 (2012)
1083.
Zeitschriftenartikel
Wittler, L.; Hilger, A.; Proske, J.; Pennimpede, T.; Draaken, M.; Ebert, A.-K.; Rösch, W.; Stein, R.; Nöthen, M. M.; Reutter, H. et al.; Ludwig, M.: Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias. Gene 506 (2), S. 392 - 395 (2012)
1084.
Zeitschriftenartikel
Parsons, M. J.; Grimm, C.; Paya-Cano, J. L.; Fernandes, C.; Liu, L.; Philip, V. M.; Chesler, E. J.; Nietfeld, W.; Lehrach, H.; Schalkwyk, L. C.: Genetic variation in hippocampal microRNA expression differences in C57BL/6 J X DBA/2 J (BXD) recombinant inbred mouse strains. BMC Genomics 13, S. 476 (2012)
1085.
Zeitschriftenartikel
Zanni, G.; Cali, T.; Kalscheuer, V. M.; Ottolini, D.; Barresi, S.; Lebrun, N.; Montecchi-Palazzi, L.; Hu, H.; Chelly, J.; Bertini, E. et al.; Brini, M.; Carafoli, E.: Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proceedings of the National Academy of Sciences of the United States of America 109 (36), S. 14514 - 14519 (2012)
1086.
Zeitschriftenartikel
Bucsenez, M.; Rüping, B.; Behrens, S.; Twyman, R. M.; Noll, G. A.; Prüfer, D.: Multiple cis-regulatory elements are involved in the complex regulation of the sieve element-specific MtSEO-F1 promoter from Medicago truncatula. Plant Biology 14 (5), S. 714 - 724 (2012)
1087.
Zeitschriftenartikel
Lill, C. M.; Bertram, L.: Developing the "next generation" of genetic association databases for complex diseases. Human Mutation 33 (9), S. 1366 - 1372 (2012)
1088.
Zeitschriftenartikel
Lill, C. M.; Liu, T.; Schjeide, B. M.; Roehr, J. T.; Akkad, D. A.; Damotte, V.; Alcina, A.; Ortiz, M. A.; Arroyo, R.; de Lapuente, A. L. et al.; Blaschke, P.; Winkelmann, A.; Gerdes, L. A.; Luessi, F.; Fernadez, O.; Izquierdo, G.; Antiguedad, A.; Hoffjan, S.; Cournu-Rebeix, I.; Gromöller, S.; Faber, H.; Liebsch, M.; Meissner, E.; Chanvillard, C.; Touze, E.; Pico, F.; Corcia, P.; Dörner, T.; Steinhagen-Thiessen, E.; Baeckman, L.; Heekeren, H. R.; Li, S. C.; Lindenberger, U.; Chan, A.; Hartung, H. P.; Aktas, O.; Lohse, P.; Kumpfel, T.; Kubisch, C.; Epplen, J. T.; Zettl, U. K.; Fontaine, B.; Vandenbroeck, K.; Matesanz, F.; Urcelay, E.; Bertram, L.; Zipp, F.: Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects. Journal of Medical Genetics (London) 49 (9), S. 558 - 562 (2012)
1089.
Zeitschriftenartikel
Ricciardi, S.; Ungaro, F.; Hambrock, M.; Rademacher, N.; Stefanelli, G.; Brambilla, D.; Sessa, A.; Magagnotti, C.; Bachi, A.; Giarda, E. et al.; Verpelli, C.; Kilstrup-Nielsen, C.; Sala, C.; Kalscheuer, V. M.; Broccoli, V.: CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nature Cell Biology 14 (9), S. 911 - 923 (2012)
1090.
Zeitschriftenartikel
Sobrido, M. J.; Cacheiro, P.; Carracedo, A.; Bertram, L.: Databases for neurogenetics: Introduction, overview, and challenges. Human Mutation 33 (9), S. 1311 - 1314 (2012)
1091.
Zeitschriftenartikel
Odoardi, F.; Sie, C.; Streyl, K.; Ulaganathan, V. K.; Schlaeger, C.; Lodygin, D.; Heckelsmiller, K.; Nietfeld, W.; Ellwart, J.; Klinkert, W. E. F. et al.; Lottaz, C.; Nosov, M.; Brinkmann, V.; Spang, R.; Lehrach, H.; Vingron, M.; Wekerle, H.; Fluegel-Koch, C.; Fluegel, A.: T cells become licensed in the lung to enter the central nervous system. Nature 488 (7413), S. 675 - 679 (2012)
1092.
Zeitschriftenartikel
Ralser, M.; Timmermann, B.: Genomanalyse von Modellorganismen: Saccharomyces cerevisiae. Biospektrum 18 (5), S. 504 - 507 (2012)
1093.
Zeitschriftenartikel
Cohrs, S.; Rodenbeck, A.; Riemann, D.; Szagun, B.; Jaehne, A.; Brinkmeyer, J.; Grunder, G.; Wienker, T.; Diaz-Lacava, A.; Mobascher, A. et al.; Dahmen, N.; Thuerauf, N.; Kornhuber, J.; Kiefer, F.; Gallinat, J.; Wagner, M.; Kunz, D.; Grittner, U.; Winterer, G.: Impaired sleep quality and sleep duration in smokers-results from the German Multicenter Study on Nicotine Dependence. Addiction Biology 2012, S. e - e (2012)
1094.
Zeitschriftenartikel
Wierling, C.; Kühn, A.; Hache, H.; Daskalaki, A.; Maschke-Dutz, E.; Peycheva, S.; Li, J.; Herwig, R.; Lehrach, H.: Prediction in the face of uncertainty: a Monte Carlo-based approach for systems biology of cancer treatment. Mutation Research-Genetic Toxixology and Environmental Mutagenesis 746 (2), S. 163 - 170 (2012)
1095.
Zeitschriftenartikel
Sharma, M.; Ioannidis, J. P.; Aasly, J. O.; Annesi, G.; Brice, A.; Van Broeckhoven, C.; Bertram, L.; Bozi, M.; Crosiers, D.; Clarke, C. et al.; Facheris, M.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilarino-Guell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; 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.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Krüger, R.: Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 79 (7), S. 659 - 667 (2012)
1096.
Zeitschriftenartikel
Ralser, M.; Kuhl, H.; Ralser, M.; Werber, M.; Lehrach, H.; Breitenbach, M.; Timmermann, B.: The Saccharomyces cerevisiae W303-K6001 cross-platform genome sequence: insights into ancestry and physiology of a laboratory mutt. Open Biology 2 (8), 120093 (2012)
1097.
Zeitschriftenartikel
Thomas-Chollier, M.; Darbo, E.; Herrmann, C.; Defrance, M.; Thieffry, D.; van Helden, J.: A complete workflow for the analysis of full-size ChIP-seq (and similar) data sets using peak-motifs. Nature Protocols 7 (8), S. 1551 - 1568 (2012)
1098.
Zeitschriftenartikel
Klatt, S.; Konthur, Z.: Secretory signal peptide modification for optimized antibody-fragment expression-secretion in Leishmania tarentolae. Microbial Cell Factories 11, 11:97 (2012)
1099.
Zeitschriftenartikel
Habermann, K.; Lange, B. M. H.: New insights into subcomplex assembly and modifications of centrosomal proteins. Cell Division 7 (1), 7:17 (2012)
1100.
Zeitschriftenartikel
Kim, H.-G.; Kim, H. T.; Leach, N. T.; Lan, F.; Ullmann, R.; Silahtaroglu, A.; Kurth, I.; Nowka, A.; Seong, I. S.; Shen, Y. et al.; Talkowski, M. E.; Ruderfer, D.; Lee, J. H.; Glotzbach, C.; Ha, K.; Kjaergaard, S.; Levin, A. V.; Romeike, B. F.; Kleefstra, T.; Bartsch, O.; Elsea, S. H.; Jabs, E. W.; Macdonald, M. E.; Harris, D. J.; Quade, B. J.; Ropers, H.-H.; Shaffer, L. G.; Kutsche, K.; Layman, L. C.; Tommerup, N.; Kalscheuer, V. M.; Shi, Y.; Morton, C. C.; Kim, C. H.; Gusella, J. F.: Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies. The American Journal of Human Genetics 91 (1), S. 56 - 72 (2012)
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