Journal Article (223)

161.
Journal Article
Giannandrea, M.; Bianchi, V.; Mignogna, M. L.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L. et al.; Ropers, H.-H.; Tzschach, A.; Kalscheuer, V. M.; Oehl-Jaschkowitz, B.; Schwartz, C. E.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; de Brouwer, A. P.M.; Toniolo, D.; D'Adamo, P.: Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. The American Journal of Human Genetics 86 (2), pp. 185 - 195 (2010)
162.
Journal Article
Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A. C.; Oudakker, A. R.; Kjaergaard, S.; Vianna-Morgante, A. M.; Kleefstra, T.; Ruiter, M.; Jehee, F. S. et al.; Ullmann, R.; Schwartz, C. E.; Stratton, M.; Raymond, F. L.; Veltman, J. A.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J. H.M.; Hehir-Kwa, J. Y.; Froyen, G.; Chelly, J.; Ropers, H.-H.; Moraine, C.; Gècz, J.; Knijnenburg, J.; Kant, S. G.; Hamel, B. C.J.; Rosenberg, C.; van Bokhoven, H.; de Brouwer, A. P.M.: Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics. Part A. 152A (3), pp. 638 - 645 (2010)
163.
Journal Article
Mann, K.; Poustka, A. J.; Mann, M.: Phosphoproteomes of Strongylocentrotus purpuratus shell and tooth matrix: identification of a major acidic sea urchin tooth phosphoprotein, phosphodontin. Proteome Science 8 (1), pp. 6 - 20 (2010)
164.
Journal Article
Witte, F.; Bernatik, O.; Kirchner, K.; Masek, J.; Mahl, A.; Krejci, P.; Mundlos, S.; Schambony, A.; Bryja, V.; Stricker, S.: Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2. The FASEB Journal 24 (7), pp. 2417 - 2426 (2010)
165.
Journal Article
Jensen, L. R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Nümann, A.; Janecke, A. R.; Spörle, R.; Stricker, S.; Raynaud, M.; Nelson, J. et al.; Hackett, A.; Fryns, J.-P.; Chelly, J.; de Brouwer, A. P. M.; Hamel, B.; Gecz, J.; Ropers, H.-H.; Kuss, A. W.: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics 3, p. 2 - 2 (2010)
166.
Journal Article
Abi-Rached, L.; Kuhl, H.; Roos, C.; ten Hallers, B.; Zhu, B.; Carbone, L.; de Jong, P. J.; Mootnick, A. R.; Knaust, F.; Reinhardt, R. et al.; Parham, P.; Walter, L.: A small, variable, and irregular killer cell Ig-like receptor locus accompanies the absence of MHC-C and MHC-G in gibbons. Journal of Immunology 184 (3), pp. 1379 - 1391 (2010)
167.
Journal Article
Castaldi, P. J.; Cho, M. H.; Cohn, M.; Langerman, F.; Moran, S.; Tarragona, N.; Moukhachen, H.; Venugopal, R.; Hasimja, D.; Kao, E. et al.; Wallace, B.; Hersh, C. P.; Bagade, S.; Bertram, L.; Silverman, E. K.; Trikalinos, T. A.: The COPD genetic association compendium: a comprehensive online database of COPD genetic associations. Human Molecular Genetics 19 (3), pp. 526 - 534 (2010)
168.
Journal Article
Dreja, T.; Jovanovic, Z.; Rasche, A.; Kluge, R.; Herwig, R.; Tung, Y. C.; Joost, H. G.; Yeo, G. S.; Al-Hasani, H.: Diet-induced gene expression of isolated pancreatic islets from a polygenic mouse model of the metabolic syndrome. Diabetologia 53 (2), pp. 309 - 320 (2010)
169.
Journal Article
Haapasalo, A.; Viswanathan, J.; Bertram, L.; Soininen, H.; Tanzi, R. E.; Hiltunen, M.: Emerging role of Alzheimer's disease-associated ubiquilin-1 in protein aggregation. Biochemical Society Transactions 38, pp. 150 - 155 (2010)
170.
Journal Article
Jensen, L. R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Nümann, A.; Janecke, A. R.; Spörle, R.; Stricker, S.; Raynaud, M.; Nelson, J. et al.; Hackett, A.; Fryns, J.-P.; Chelly, J.; de Brouwer, A. P. M.; Hamel, B.; Gecz, J.; Ropers, H.-H.; Kuss, A. W.: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C. Pathogenetics 2 (3), p. 2 - 2 (2010)
171.
Journal Article
Meyerdierks, A.; Kube, M.; Kostadinov, I.; Teeling, H.; Glöckner, F. O.; Reinhardt, R.; Amann, R.: Metagenome and mRNA expression analyses of anaerobic methanotrophic archaea of the ANME-1 group. Environmental Microbiology 12 (2), pp. 422 - 439 (2010)
172.
Journal Article
Raabe, C. A.; Sanchez, C. P.; Randau, G.; Robeck, T.; Skryabin, B. V.; Chinni, S. V.; Kube, M.; Reinhardt, R.; Ng, G. H.; Manickam, R. et al.; Kuryshev, V. Y.; Lanzer, M.; Brosius, J.; Tang, T. H.; Rozhdestvensky, T. S.: A global view of the nonprotein-coding transcriptome in Plasmodium falciparum. Nucleic Acids Research 38 (2), pp. 608 - 617 (2010)
173.
Journal Article
Schaefer, A. S.; Richter, G. M.; Nothnagel, M.; Manke, T.; Dommisch, H.; Jacobs, G.; Arlt, A.; Rosenstiel, P.; Noack, B.; Groessner-Schreiber, B. et al.; Jepsen, S.; Loos, B. G.; Schreiber, S.: A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis. Human Molecular Genetics 19 (3), pp. 553 - 562 (2010)
174.
Journal Article
von Kodolitsch, Y.; Rybczynski, M.; Bernhardt, A.; Mir, T. S.; Treede, H.; Dodge-Khatami, A.; Robinson, P. N.; Sheikhzadeh, S.; Reichenspurner, H.; Meinertz, T.: Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? European Journal for Vascular Medicine 39 (1), pp. 17 - 32 (2010)
175.
Journal Article
Grohmann, M.; Hammer, P.; Walther, M.; Paulmann, N.; Büttner, A.; Eisenmenger, W.; Baghai, T. C.; Schüle, C.; Rupprecht, R.; Bader, M. et al.; Bondy, B.; Zill, P.; Priller, J.; Walther, D. J.: Alternative Splicing and Extensive RNA Editing of Human TPH2 Transcripts. PLoS ONE 5 (1), p. e8956 - e8956 (2010)
176.
Journal Article
Kuhl, H.; Beck, A.; Wozniak, G.; Canario, A. V. M.; Volckaert, F. A. M.; Reinhardt, R.: The European sea bass Dicentrarchus labrax genome puzzle: comparative BAC-mapping and low coverage shotgun sequencing. BMC Genomics 11, p. 11:68 - 11:68 (2010)
177.
Journal Article
Giedraitis, V.; Glaser, A.; Sarajarvi, T.; Brundin, R.; Gunnarsson, M. D.; Schjeide, B. M.; Tanzi, R. E.; Helisalmi, S.; Pirttila, T.; Kilander, L. et al.; Lannfelt, L.; Soininen, H.; Bertram, L.; Ingelsson, M.; Hiltunen, M.: CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid. Neuroscience Letters 469 (2), pp. 265 - 267 (2010)
178.
Journal Article
Sleegers, K.; Lambert, J. C.; Bertram, L.; Cruts, M.; Amouyel, P.; Van Broeckhoven, C.: The pursuit of susceptibility genes for Alzheimer's disease: progress and prospects. Trends in Genetics 26 (2), pp. 84 - 93 (2010)
179.
Journal Article
Bartsch, O.; Gebauer, K.; Lechno, S.; van Esch, H.; Froyen, G.; Bonin, M.; Jörg Seidel, J. S.; Thamm-Mücke, B.; Horn, D.; Klopock, E. et al.; Hertzberg, C.; Zechner, U.; Haaf, T.: Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. American Journal of Medical Genetics Part A 152A (2), pp. 305 - 312, (2010)
180.
Journal Article
Cheng, X.; Guerasimova, A.; Manke, T.; Rosenstiel, P.; Haas, S.; Warnatz, H. J.; Querfurth, R.; Nietfeld, W.; Vanhecke, D.; Lehrach, H. et al.; Yaspo, M. L.; Janitz, M.: Screening of human gene promoter activities using transfected-cell arrays. Gene 450 (1-2), pp. 48 - 54 (2010)
Go to Editor View