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Zeitschriftenartikel (67)

  1. 1.
    Zeitschriftenartikel
    Knaus, A.; Awaya, T.; Helbig, I.; Afawi, Z.; Pendziwiat, M.; Abu-Rachma, J.; Thompson, M. D.; Cole, D. E.; Skinner, S.; Annese, F. et al.; Canham, N.; Schweiger, M. R.; Robinson, P. N.; Mundlos, S.; Kinoshita, T.; Munnich, A.; Murakami, Y.; Horn, D.; Krawitz, P. M.: Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Human Mutations 37 (8), S. 737 - 744 (2016)
  2. 2.
    Zeitschriftenartikel
    Olech, E. M.; Zemojtel, T.; Sowinska-Seidler, A.; Mundlos, S.; Robinson, P. N.; Karczewski, M.; Jamsheer, A.: Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. Polish Journal of Pathology 67 (1), S. 78 - 83 (2016)
  3. 3.
    Zeitschriftenartikel
    Fischer-Zirnsak, B.; Escande-Beillard, N.; Ganesh, J.; Tan, Y. X.; Bughaili, M. A.; Lin, A. E.; Sahai, I.; Bahena, P.; Reichert, S. L.; Loh, A. et al.; Wright, G. D.; Liu, J.; Rahikkala, E.; Pivnick, E. K.; Choudhri, A. F.; Krüger, U.; Zemojtel, T.; van Ravenswaaij-Arts, C.; Mostafavi, R.; Stolte-Dijkstra, I.; Symoens, S.; Pajunen, L.; Al-Gazali, L.; Meierhofer, D.; Robinson, P. N.; Mundlos, S.; Villarroel, C. E.: Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. The American Journal of Human Genetics 97 (3), S. 483 - 492 (2015)
  4. 4.
    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)
  5. 5.
    Zeitschriftenartikel
    Emmerich, D.; Zemojtel, T.; Hecht, J.; Krawitz, P.; Spielmann, M.; Kühnisch, J.; Kobus, K.; Oßwald, M.; Heinrich, V.; Berlien, P. et al.; Müller, U.; Mautner, V.-F.; Wimmer, K.; Robinson, P. N.; Vingron, M.; Tinschert, S.; Mundlos, S.; Kolanczyk, M.: Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 23 (6), S. 1870 - 1873 (2015)
  6. 6.
    Zeitschriftenartikel
    Kolanczyk, M.; Krawitz, P.; Hecht, J.; Hupalowska, A.; Miaczynska, M.; Marschner, K.; Schlack, C.; Emerich, D.; Kobus, K.; Kornak, U. et al.; Robinson, P. N.; Plecko, B.; Grangl, G.; Uhrig, S.; Mundlos, S.; Horn, D.: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European journal of human genetics 23, 720 (2015)
  7. 7.
    Zeitschriftenartikel
    Zemojtel, T.; Köhler, S.; Mackenroth, L.; Jäger, M.; Hecht, J.; Krawitz, P.; Graul-Neumann, L.; Doelken, S.; Ehmke, N.; Spielmann, M. et al.; Oien, N. C.; Schweiger, M. R.; Krüger, U.; Frommer, G.; Fischer, B.; Kornak, U.; Flöttmann, R.; Ardeshirdavani, A.; Moreau, Y.; Lewis, S. E.; Haendel, M.; Smedley, D.; Horn, D.; Mundlos, S.; Robinson, P. N.: Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Madicine 6 (252), 252ra123 (2014)
  8. 8.
    Zeitschriftenartikel
    Howard, M. F.; Murakami, Y.; Pagnamenta, A. T.; Daumer-Haas, C.; Fischer, B.; Hecht, J.; Keays, D. A.; Knight, S. J.; Kolsch, U.; Kruger, U. et al.; Leiz, S.; Maeda, Y.; Mitchell, D.; Mundlos, S.; Phillips, J. A.,. 3.; Robinson, P. N.; Kini, U.; Taylor, J. C.; Horn, D.; Kinoshita, T.; Krawitz, P. M.: Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. The American Journal of Human Genetics 94 (2), S. 278 - 287 (2014)
  9. 9.
    Zeitschriftenartikel
    Aydin, A.; Desai, N.; Bernhardt, A. M.; Treede, H.; Detter, C.; Sheikhzadeh, S.; Rybczynski, M.; Hillebrand, M.; Lorenzen, V.; Mortensen, K. et al.; Robinson, P. N.; Berger, J.; Reichenspurner, H.; Meinertz, T.; Willems, S.; von Kodolitsch, Y.: Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease. International Journal of Cardiology (164(3)), S. 301 - 305 (2013)
  10. 10.
    Zeitschriftenartikel
    Spielmann, M.; Brancati, F.; Krawitz, P. M.; Robinson, P. N.; Ibrahim, D. M.; Franke, M.; Hecht, J.; Lohan, S.; Dathe, K.; Nardone, A. M. et al.; Ferrari, P.; Landi, A.; Wittler, L.; Timmermann, B.; Chan, D.; Mennen, U.; Klopocki, E.; Mundlos, S.: Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. American Journal of Human Genetics 91 (4), S. 629 - 635 (2012)
  11. 11.
    Zeitschriftenartikel
    Krawitz, P. M.; Murakami, Y.; Hecht, J.; Kruger, U.; Holder, S. E.; Mortier, G. R.; Delle Chiaie, B.; De Baere, E.; Thompson, M. D.; Roscioli, T. et al.; Kielbasa, S. M.; Kinoshita, T.; Mundlos, S.; Robinson, P. N.; Horn, D.: Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics 91 (1), S. 146 - 151 (2012)
  12. 12.
    Zeitschriftenartikel
    Heinrich, V.; Stange, J.; Dickhaus, T.; Imkeller, P.; Kruger, U.; Bauer, S.; Mundlos, S.; Robinson, P. N.; Hecht, J.; Krawitz, P. M.: The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Research (London) 40 (6), S. 2426 - 2431 (2012)
  13. 13.
    Zeitschriftenartikel
    Murakami, Y.; Kanzawa, N.; Saito, K.; Krawitz, P. M.; Mundlos, S.; Robinson, P. N.; Karadimitris, A.; Maeda, Y.; Kinoshita, T.: Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. The Journal of Biological Chemistry 287 (9), S. 6318 - 6325 (2012)
  14. 14.
    Zeitschriftenartikel
    Aydin, A.; Mortensen, K.; Rybczynski, M.; Sheikhzadeh, S.; Willmann, S.; Bernhardt, A. M.; Hillebrand, M.; Stritzke, J.; Baulmann, J.; Schunkert, H. et al.; Keil, U.; Hense, H. W.; Meisinger, C.; Robinson, P. N.; Berger, J.; Willems, S.; Meinertz, T.; von Kodolitsch, Y.: Central pulse pressure and augmentation index in asymptomatic bicuspid aortic valve disease. Int J Cardiol 147 (3), S. 466 - 8 (2011)
  15. 15.
    Zeitschriftenartikel
    Bauer, S.; Robinson, P. N.; Gagneur, J.: Model-based gene set analysis for Bioconductor. Bioinformatics 27 (13), S. 1882 - 3 (2011)
  16. 16.
    Zeitschriftenartikel
    Dharmadasa, A.; Dean, M.; Lucas, D. N.; Rao, K.; Robinson, P. N.: SAFE handovers in obstetric anaesthesia. Int J Obstet Anesth 20 (2), S. 192 (2011)
  17. 17.
    Zeitschriftenartikel
    Guo, G.; Gehle, P.; Doelken, S.; Martin-Ventura, J. L.; von Kodolitsch, Y.; Hetzer, R.; Robinson, P. N.: Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. PLoS ONE 6 (5), S. e20138 (2011)
  18. 18.
    Zeitschriftenartikel
    Haworth, A.; Bertram, L.; Carrera, P.; Elson, J. L.; Braastad, C. D.; Cox, D. W.; Cruts, M.; den Dunnen, J. T.; Farrer, M. J.; Fink, J. K. et al.; Hamed, S. A.; Houlden, H.; Johnson, D. R.; Nuytemans, K.; Palau, F.; Rayan, D. L.; Robinson, P. N.; Salas, A.; Schule, B.; Sweeney, M. G.; Woods, M. O.; Amigo, J.; Cotton, R. G.; Sobrido, M. J.: Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 12 (3), S. 169 - 73 (2011)
  19. 19.
    Zeitschriftenartikel
    Haworth, A.; Bertram, L.; Carrera, P.; Elson, J. L.; Braastad, C. D.; Cox, D. W.; Cruts, M.; den Dunnen, J. T.; Farrer, M. J.; Fink, J. K. et al.; Hamed, S. A.; Houlden, H.; Johnson, D. R.; Nuytemans, K.; Palau, F.; Rayan, D. L.; Robinson, P. N.; Salas, A.; Schule, B.; Sweeney, M. G.; Woods, M. O.; Amigo, J.; Cotton, R. G.; Sobrido, M. J.: Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 12 (3), S. 169 - 73 (2011)
  20. 20.
    Zeitschriftenartikel
    Heinrich, V.; Stange, J.; Dickhaus, T.; Imkeller, P.; Kruger, U.; Bauer, S.; Mundlos, S.; Robinson, P. N.; Hecht, J.; Krawitz, P. M.: The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Res (2011)
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