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Journal Article (42)

  1. 1.
    Journal Article
    Lohan, S.; Spielmann, M.; Doelken, S. C.; Flottmann, R.; Muhammad, F.; Baig, S. M.; Wajid, M.; Hulsemann, W.; Habenicht, R.; Kjaer, K. W. et al.; Patil, S. J.; Girisha, K. M.; Abarca-Barriga, H. H.; Mundlos, S.; Klopocki, E.: Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clinical Genetics: an international journal of genetics in medicine 86 (4), pp. 318 - 325 (2014)
  2. 2.
    Journal Article
    Tayebi, N.; Jamsheer, A.; Flöttmann, R.; Sowinska-Seidler, A.; Doelken, S. C.; Oehl-Jaschkowitz, B.; Hülsemann, W.; Habenicht, R.; Klopocki, E.; Mundlos, S. et al.; Spielmann, M.: Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Orphanet Journal of Rare Diseases 2014, 9:108 (2014)
  3. 3.
    Journal Article
    Kalsoom, U. E.; Klopocki, E.; Wasif, N.; Tariq, M.; Khan, S.; Hecht, J.; Krawitz, P.; Mundlos, S.; Ahmad, W.: Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. Journal of Medical Genetics 50 (1), pp. 47 - 53 (2013)
  4. 4.
    Journal Article
    Villavicencio-Lorini, P.; Klopocki, E.; Trimborn, M.; Koll, R.; Mundlos, S.; Horn, D.: Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 2012, p. e - e (2012)
  5. 5.
    Journal Article
    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), pp. 629 - 635 (2012)
  6. 6.
    Journal Article
    Ott, C. E.; Hein, H.; Lohan, S.; Hoogeboom, J.; Foulds, N.; Grunhagen, J.; Stricker, S.; Villavicencio-Lorini, P.; Klopocki, E.; Mundlos, S.: Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. Journal of Medical Genetics (London) 49 (7), pp. 437 - 441 (2012)
  7. 7.
    Journal Article
    Rosenfeld, J. A.; Traylor, R. N.; Schaefer, G. B.; McPherson, E. W.; Ballif, B. C.; Klopocki, E.; Mundlos, S.; Shaffer, L. G.; Aylsworth, A. S.: Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 20 (7), pp. 754 - 761 (2012)
  8. 8.
    Journal Article
    Klopocki, E.; Kaehler, C.; Foulds, N.; Shah, H.; Joseph, B.; Vogel, H.; Luttgen, S.; Bald, R.; Besoke, R.; Held, K. et al.; Mundlos, S.; Kurth, I.: Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 20 (6), pp. 705 - 708 (2012)
  9. 9.
    Journal Article
    Klopocki, E.; Lohan, S.; Doelken, S. C.; Stricker, S.; Ockeloen, C. W.; Soares Thiele de Aguiar, R.; Lezirovitz, K.; Netto, M.; Jamsheer, A.; Shah, H. et al.; Kurth, I.; Habenicht, R.; Warman, M.; Devriendt, K.; Kordass, U.; Hempel, M.; Rajab, A.; Makitie, O.; Naveed, M.; Radhakrishna, U.; Antonarakis, S. E.; Horn, D.; Mundlos, S.: Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics (London) 49 (2), pp. 119 - 125 (2012)
  10. 10.
    Journal Article
    Klopocki, E.; Lohan, S.; Doelken, S. C.; Stricker, S.; Ockeloen, C. W.; Soares Thiele de Aguiar, R.; Lezirovitz, K.; Mingroni Netto, R. C.; Jamsheer, A.; Shah, H. et al.; Kurth, I.; Habenicht, R.; Warman, M.; Devriendt, K.; Kordass, U.; Hempel, M.; Rajab, A.; Makitie, O.; Naveed, M.; Radhakrishna, U.; Antonarakis, S. E.; Horn, D.; Mundlos, S.: Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet 49 (2), pp. 119 - 125 (2012)
  11. 11.
    Journal Article
    Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K. et al.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.: Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. American Journal of Human Genetics 88 (1), pp. 70 - 75 (2011)
  12. 12.
    Journal Article
    Busche, A.; Graul-Neumann, L. M.; Zweier, C.; Rauch, A.; Klopocki, E.; Horn, D.: Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. Eur J Med Genet 54 (3), pp. 256 - 61 (2011)
  13. 13.
    Journal Article
    Hagen, A.; Bigl, A.; Wand, D.; Klopocki, E.; Heller, R.; Siekmeyer, M.; Siekmeyer, W.; Kiess, W.; Merkenschlager, A.: Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings. Am J Med Genet A 155A (12), pp. 3075 - 81 (2011)
  14. 14.
    Journal Article
    Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K. et al.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.: Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet 88 (1), pp. 70 - 5 (2011)
  15. 15.
    Journal Article
    Kortum, F.; Das, S.; Flindt, M.; Morris-Rosendahl, D. J.; Stefanova, I.; Goldstein, A.; Horn, D.; Klopocki, E.; Kluger, G.; Martin, P. et al.; Rauch, A.; Roumer, A.; Saitta, S.; Walsh, L. E.; Wieczorek, D.; Uyanik, G.; Kutsche, K.; Dobyns, W. B.: The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 48 (6), pp. 396 - 406 (2011)
  16. 16.
    Journal Article
    Liu, Z.; Fusi, A.; Klopocki, E.; Schmittel, A.; Tinhofer, I.; Nonnenmacher, A.; Keilholz, U.: Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients. J Transl Med 9, p. 70 (2011)
  17. 17.
    Journal Article
    Rump, P.; Jongbloed, J. D.; Sikkema-Raddatz, B.; Mundlos, S.; Klopocki, E.; van der Luijt, R. B.: Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. Am J Med Genet A 155A (10), pp. 2566 - 70 (2011)
  18. 18.
    Journal Article
    Spielmann, M.; Reichelt, G.; Hertzberg, C.; Trimborn, M.; Mundlos, S.; Horn, D.; Klopocki, E.: Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Eur J Med Genet 54 (4), pp. e441 - 5 (2011)
  19. 19.
    Journal Article
    Turkmen, S.; Riehn, M.; Klopocki, E.; Molkentin, M.; Reinhardt, R.; Burmeister, T.: A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1. Genes Chromosomes Cancer 50 (6), pp. 389 - 96 (2011)
  20. 20.
    Journal Article
    Horn, D.; Kapeller, J.; Rivera-Brugues, N.; Moog, U.; Lorenz-Depiereux, B.; Eck, S.; Hempel, M.; Wagenstaller, J.; Gawthrope, A.; Monaco, A. P. et al.; Bonin, M.; Riess, O.; Wohlleber, E.; Illig, T.; Bezzina, C. R.; Franke, A.; Spranger, S.; Villavicencio-Lorini, P.; Seifert, W.; Rosenfeld, J.; Klopocki, E.; Rappold, G. A.; Strom, T. M.: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Human Mutation 31 (11), pp. E1851 - E1860 (2010)
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