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Journal Article (19)

  1. 1.
    Journal Article
    Jensen, L. R.; Chen, W.; Moser, B.; Lipkowitz, B.; Schroeder, C.; Musante, L.; Tzschach, A.; Kalscheuer, V. M.; Meloni, I.; Raynaud, M. et al.; van Esch, H.; Chelly, J.; de Brouwer, A. P.; Hackett, A.; van der Haar, S.; Henn, W.; Gecz, J.; Riess, O.; Bonin, M.; Reinhardt, R.; Ropers, H. H.; Kuss, A. W.: Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet 19 (6), pp. 717 - 20 (2011)
  2. 2.
    Journal Article
    Pak, C.; Garshasbi, M.; Kahrizi, K.; Gross, C.; Apponi, L. H.; Noto, J. J.; Kelly, S. M.; Leung, S. W.; Tzschach, A.; Behjati, F. et al.; Abedini, S. S.; Mohseni, M.; Jensen, L. R.; Hu, H.; Huang, B.; Stahley, S. N.; Liu, G.; Williams, K. R.; Burdick, S.; Feng, Y.; Sanyal, S.; Bassell, G. J.; Ropers, H. H.; Najmabadi, H.; Corbett, A. H.; Moberg, K. H.; Kuss, A. W.: Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A 108 (30), pp. 12390 - 5 (2011)
  3. 3.
    Journal Article
    Santos-Reboucas, C. B.; Fintelman-Rodrigues, N.; Jensen, L. R.; Kuss, A. W.; Ribeiro, M. G.; Campos, M.; Santos, J. M.; Pimentel, M. M.: A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. Neurosci Lett 498 (1), pp. 67 - 71 (2011)
  4. 4.
    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)
  5. 5.
    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)
  6. 6.
    Journal Article
    Frints, S. G. M.; Lenzner, S.; Bauters, M.; Jensen, L. R.; Van Esch, H.; des Portes, V.; Moog, U.; Macville, M. V. E.; van Roozendaal, K.; Schrander-Stumpel, C. T. R. M. et al.; Tzschach, A.; Marynen, P.; Fryns, J.-P.; Hame, B.; van Bokhoven, H.; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; Raynaud, M.; Ropers, H. H.; Froyen, G.; Kuss, A. W.: MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. European Journal of Human Genetics 16 (9), pp. 1029 - 1037 (2008)
  7. 7.
    Journal Article
    Motazacker, M. M.; Rost, B. R.; Hucho, T.; Garshasb, M.; Kahriz, K.; Ullmann, R.; Abedini, S. S.; Nieh, S. E.; Amini, S. H.; Goswami, C. et al.; Tzschach, A.; Jensen, L. R.; Schmitz, D.; Ropers, H.-H.; Najmabadi, H.; Kuss, A. W.: A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. The American Journal of Human Genetics: AJHG 81 (4), pp. 792 - 798 (2007)
  8. 8.
    Journal Article
    Najmabadi, H.; Motazacker, M. M.; Garshasbi, M.; Kahrizi, K.; Tzschach, A.; Chen, W.; Behjati, F.; Hadavi, V.; Nieh, S. E.; Abedini, S. S. et al.; Vazifehmand, R.; Firouzabadi, S. G.; Jamali, P.; Falah, M.; Seifati, S. M.; Grüters, A.; Lenzner, S.; Jensen, L. R.; Rüschendorf, F.; Kuss, A. W.; Ropers, H.-H.: Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Human Genetics 121 (1), pp. 43 - 48 (2007)
  9. 9.
    Journal Article
    de Brouwer, A. P.M.; Yntema, H. G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A. R.; de Vries, B. B. A.; van Bokhoven, H.; van Esch, H.; Frints, S. G. M.; Froyen, G. et al.; Fryns, J.-P.; Raynaud, M.; Moizard, M.-P.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; Beldjord, C.; des Portes, V.; Chelly, J.; Turner, G.; Fullston, T.; Gecz, J.; Kuss, A. W.; Tzschach, A.; Jensen, L. R.; Lenzner, S.; Kalscheuer, V. M.; Ropers, H.-H.; Hamel, B. C.J.: Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human Mutation 28 (2), pp. 207 - 208 (2007)
  10. 10.
    Journal Article
    Jensen, L. R.; Lenzner, S.; Mose, B.; Freude, K.; Tzschach, A.; Chen, W.; Fryns, J.-P.; Chelly, J.; Turner, G.; Moraine, C. et al.; Hamel, B.; Ropers, H.-H.; Kuss, A. w.: X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (1), pp. 68 - 75 (2007)
  11. 11.
    Journal Article
    Jensen, L. R.; Lenzner, S.; Mose, B.; Freude, K.; Tzschach, A.; Chen, W.; Fryns, J.-P.; Chelly, J.; Turner, G.; Moraine, C. et al.; Hamel, B.; Ropers, H.-H.; Kuss, A. w.: X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (1), pp. 68 - 75 (2007)
  12. 12.
    Journal Article
    Budny, B.; Chen, W.; Omran, H.; Fliegauf, M.; Tzschach, A.; Wisniewska, M.; Jensen, L. R.; Raynaud, M.; Shoichet, S. A.; Badura, M. et al.; Lenzner, S.; Latos-Bielenska, A.; Ropers, H.-H.: A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Human Genetics 120 (2), pp. 171 - 178 (2006)
  13. 13.
    Journal Article
    Tzschach, A.; Lenzner, S.; Moser, B.; Reinhardt, R.; Chelly, J.; Fryns, J.-P.; Kleefstra, T.; Raynaud, M.; Turner, G.; Ropers, H.-H. et al.; Kuss, A.; Jensen, L. R.: Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation 27 (4), p. 389 - 389 (2006)
  14. 14.
    Journal Article
    Tzschach, A.; Lenzner, S.; Moser, B.; Reinhardt, R.; Chelly, J.; Fryns, J.-P.; Kleefstra, T.; Raynaud, M.; Turner, G.; Ropers, H.-H. et al.; Kuss, A.; Jensen, L. R.: Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation 27 (4), p. 389 - 389 (2006)
  15. 15.
    Journal Article
    Jensen, L. R.; Amende, M.; Gurok, U.; Moser, B.; Gimme, V.; Tzschach, A.; Janecke, A. R.; Tariverdian, G.; Chelly, J.; Fryns, J.-P. et al.; Van Esch, H.; Kleefstra, T.; Hame, B.; Moraine, C.; Gécz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V. M.; Ropers, H.-H.; Lenzner, S.: : Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 76 (2), pp. 227 - 236 (2005)
  16. 16.
    Journal Article
    Jensen, L. R.; Amende, M.; Gurok, U.; Moser, B.; Gimme, V.; Tzschach, A.; Janecke, A. R.; Tariverdian, G.; Chelly, J.; Fryns, J.-P. et al.; Van Esch, H.; Kleefstra, T.; Hame, B.; Moraine, C.; Gécz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V. M.; Ropers, H.-H.; Lenzner, S.: : Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 76 (2), pp. 227 - 236 (2005)
  17. 17.
    Journal Article
    Freude, K.; Hoffmann, K.; Jensen, L.-R.; Delatycki, M. B.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.-P. et al.; Chelly, J.; Gécz, J.; Lenzner, S.; Kalscheuer, V. M.; Ropers, H.-H.: Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics 75 (2), pp. 305 - 309 (2004)
  18. 18.
    Journal Article
    Kalscheuer, V. M.; Freude, K.; Musante, L.; Jensen, L. R.; Yntema, H. G.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S. et al.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.-C.; Shoichet, S.; Hagens, O.; Tao, J.; van Bokhoven, H.; Turner, G.; Chelly, J.; Moraine, C.; Fryns, J.-P.; Nuber, U.; Hoeltzenbein, M.; Scharff, C.; Scherthan, H.; Lenzner, S.; Hamel, B. C. J.; Schweiger, S.; Ropers, H.-H.: Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics 35 (4), pp. 313 - 315 (2003)
  19. 19.
    Journal Article
    Tümer, Z.; Croucher, P. J. P.; Jensen, L. R.; Hampe, J.; Hansen, C.; Kalscheuer, V.; Ropers, H. H.; Tommerup, N.; Schreiber, S.: Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2). Gene 288 (1-2), pp. 179 - 185 (2002)
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