Zeitschriftenartikel (1124)

701.
Zeitschriftenartikel
Kang, J.; Lienhard, M.; Pastor, W. A.; Chawla, A.; Novotny, M.; Tsagaratou, A.; Lasken, R. S.; Thompson, E. C.; Surani, M. A.; Koralov, S. B. et al.; Kalantry, S.; Chavez, L.; Rao, A.: Simultaneous deletion of the methylcytosine oxidases Tet1 and Tet3 increases transcriptome variability in early embryogenesis. Proceedings of the National Academy of Sciences of the United States of America 112 (31), S. E4236 - E4245 (2015)
702.
Zeitschriftenartikel
Flöttmann, R.; Knaus, A.; Zemojtel, T.; Robinson, P. N.; Mundlos, S.; Horn, D.; Spielmann, M.: FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics 58 (8), S. 376 - 380 (2015)
703.
Zeitschriftenartikel
Glémin, S.; Arndt, P. F.; Messer, P. W.; Petrov, D.; Galtier, N.; Duret, L.: Quantification of GC-biased gene conversion in the human genome. Genome Research 25 (8), S. 1215 - 1228 (2015)
704.
Zeitschriftenartikel
Lelieveld, S. H.; Spielmann, M.; Mundlos, S.; Veltman, J. A.; Gilissen, C.: Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations 36 (8), S. 815 - 822 (2015)
705.
Zeitschriftenartikel
Shehata, S. N.; Deak, M.; Morrice, N. A.; Ohta, E.; Hunter, R. W.; Kalscheuer, V. M.; Sakamoto, K.: Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16. Biochemical Journal 469 (3), S. 409 - 420 (2015)
706.
Zeitschriftenartikel
Stange, K.; Ott, C. E.; Schmidt-von Kegler, M.; Gillesen-Kaesbach, G.; Mundlos, S.; Dathe, K.; Seemann, P.: Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? JOURNAL OF HUMAN GENETICS 60 (8), S. 419 - 425 (2015)
707.
Zeitschriftenartikel
Flöttmann, R.; Wagner, J.; Kobus, K.; Curry, C. J.; Savarirayan, R.; Nishimura, G.; Yasui, N.; Spranger, J.; Van Esch, H.; Lyons, M. J. et al.; DuPont, B. R.; Dwivedi, A.; Klopocki, E.; Horn, D.; Mundlos, S.; Spielmann, M.: Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 52 (7), S. 476 - 483 (2015)
708.
Zeitschriftenartikel
Francioli, L. C.; Polak, P. P.; Koren, A.; Menelaou, A.; Chun, S.; Renkens, I.; Genome of the Netherlands, C.; van Duijn, C. M.; Swertz, M.; Wijmenga, C. et al.; van Ommen, G.; Slagboom, P. E.; Boomsma, D. I.; Ye, K.; Guryev, V.; Arndt, P. F.; Kloosterman, W. P.; de Bakker, P. I.; Sunyaev, S. R.: Genome-wide patterns and properties of de novo mutations in humans. Nature Genetics 47 (7), S. 822 - 826 (2015)
709.
Zeitschriftenartikel
Pasqualini, L.; Bu, H.; Puhr, M.; Narisu, N.; Rainer, J.; Schlick, B.; Schäfer, G.; Angelova, M.; Trajanoski, Z.; Börno, S. T. et al.; Schweiger, M. R.; Fuchsberger, C.; Klocker, H.: miR-22 and miR-29a are members of the androgen receptor cistrome modulating LAMC1 and Mcl-1 in prostate cancer. Molecular Endocrinology 29 (7), S. 1037 - 1054 (2015)
710.
Zeitschriftenartikel
Jolly, L. A.; Nguyen, L. S.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V. M. et al.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.: HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. Human Molecular Genetics 24 (12), S. 3335 - 3347 (2015)
711.
Zeitschriftenartikel
Chaban, Y.; Lurz, R.; Brasilès, S.; Cornilleau, C.; Karreman, M.; Zinn-Justin, S.; Tavares, P.; Orlova, E. V.: Structural rearrangements in the phage head-to-tail interface during assembly and infection. Proceedings of the National Academy of Sciences of the United States of America 112 (22), S. 7009 - 7014 (2015)
712.
Zeitschriftenartikel
Hammerl, J. A.; Roschanski, N.; Lurz, R.; Johne, R.; Lanka, E.; Hertwig, S.: The Molecular Switch of Telomere Phages: High Binding Specificity of the PY54 Cro Lytic Repressor to a Single Operator Site. Viruses 7 (6), S. 2771 - 2793 (2015)
713.
Zeitschriftenartikel
Bernal Ulloa, S. M.; Heinzmann, J.; Herrmann, D.; Timmermann, B.; Baulain, U.; Großfeld, R.; Diederich, M.; Lucas-Hahn, A.; Niemann, H.: Effects of different oocyte retrieval and in vitro maturation systems on bovine embryo development and quality. Zygote 23 (3), S. 367 - 377 (2015)
714.
Zeitschriftenartikel
Grote, P.; Herrmann, B. G.: Long noncoding RNAs in organogenesis: Making the difference. Trends in Genetics 31 (6), S. 329 - 335 (2015)
715.
Zeitschriftenartikel
Hossini, A. M.; Megges, M.; Prigione, A.; Lichtner, B.; Toliat, M. R.; Wruck, W.; Schröter, F.; Nuernberg, P.; Kroll, H.; Makrantonak, E. et al.; Zoubouli, C. C.; Adjaye, J.: Erratum: Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks. BMC Genomics 16, S. 84 (2015)
716.
Zeitschriftenartikel
Maass, P. G.; Aydin, A.; Luft, F. C.; Schachterle, C.; Weise, A.; Stricker, S.; Lindschau, C.; Vaegler, M.; Qadri, F.; Toka, H. R. et al.; Schulz, H.; Krawitz, P. M.; Parkhomchuk, D.; Hecht, J.; Hollfinger, I.; Wefeld-Neuenfeld, Y.; Bartels-Klein, E.; Muhl, A.; Kann, M.; Schuster, H.; Chitayat, D.; Bialer, M. G.; Wienker, T. F.; Ott, J.; Rittscher, K.; Liehr, T.; Jordan, J.; Plessis, G.; Tank, J.; Mai, K.; Naraghi, R.; Hodge, R.; Hopp, M.; Hattenbach, L. O.; Busjahn, A.; Rauch, A.; Vandeput, F.; Gong, M.; Ruschendorf, F.; Hübner, N.; Haller, H.; Mundlos, S.; Bilginturan, N.; Movsesian, M. A.; Klussmann, E.; Toka, O.; Bahring, S.: PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics 47 (6), S. 647 - 653 (2015)
717.
Zeitschriftenartikel
Shaw, M.; Yap, T. Y.; Henden, L.; Bahlo, M.; Gardner, A.; Kalscheuer, V. M.; Haan, E.; Christie, L.; Hackett, A.; Gecz, J.: Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics 58 (6-7), S. 364 - 368 (2015)
718.
Zeitschriftenartikel
Starick, S. R.; Ibn-Salem, J.; Jurk, M.; Hernandez, C.; Love, M. I.; Chung, H.-R.; Vingron, M.; Thomas-Chollier, M.; Meijsing, S. H.: ChIP-exo signal associated with DNA-binding motifs provides insight into the genomic binding of the glucocorticoid receptor and cooperating transcription factors. Genome Res 25 (6), S. 825 - 835 (2015)
719.
Zeitschriftenartikel
Sukalo, M.; Tilsen, F.; Kayserili, H.; Muller, D.; Tuysuz, B.; Ruddy, D. M.; Wakeling, E.; Orstavik, K. H.; Snape, K. M.; Trembath, R. et al.; De Smedt, M.; van der Aa, N.; Skalej, M.; Mundlos, S.; Wuyts, W.; Southgate, L.; Zenker, M.: DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Human Mutations 36 (6), S. 593 - 598 (2015)
720.
Zeitschriftenartikel
Schafer, S.; Adami, E.; Heinig, M.; Rodrigues, K. E.; Kreuchwig, F.; Silhavy, J.; van Heesch, S.; Simaite, D.; Rajewsky, N.; Cuppen, E. et al.; Pravenec, M.; Vingron, M.; Cook, S. A.; Hubner, N.: Translational regulation shapes the molecular landscape of complex disease phenotypes. Nat Commun 6, 6:7200 (2015)
Zur Redakteursansicht