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Zeitschriftenartikel (29)

  1. 1.
    Zeitschriftenartikel
    Hu, H.; Kahrizi, K.; Musante, L.; Fattahi, Z.; Herwig, R.; Hosseini, M.; Oppitz, C.; Abedini, S. S.; Suckow, V.; Farzaneh, L. et al.; Beheshtian, M.; Lipkowitz, B.; Akhtarkhavari, T.; Mehvari, S.; Otto, S.; Mohseni, M.; Arzhangi, S.; Jamali, P.; Mojahedi, F.; Taghdiri, M.; Papari, E.; Soltani Banavandi, M. J.; Akbari, S.; Tonekaboni, S. H.; Dehghani, H.; Ebrahimpou, M. R.; Bader, I.; Davarnia, B.; Cohen, M.; Khodaei, H.; Albrecht, B.; Azimi, S.; Zirn, B.; Bastami, M.; Wieczorek, D.; Bahrami, G.; Keleman, K.; Vahid, L. N.; Timmermann, B.; Pourfatemi, F.; Jankhah, A.; Chen, W.; Nikuei, P.; Kalscheuer, V. M.; Oladnabi, M.; Wienker, T. F.; Ropers, H.-H.; Najmabadi, H.: Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 24 (7) (2018)
  2. 2.
    Zeitschriftenartikel
    Musante, L.; Püttmann, L.; Kahrizi, K.; Garshasbi, M.; Hu, H.; Stehr, H.; Lipkowitz, B.; Otto, S.; Jensen, L. R.; Tzschach, A. et al.; Jamali, P.; Wienker, T. F.; Najmabadi, H.; Ropers, H. H.; Kuss, A. W.: Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Human Mutations 38 (6), S. 621 - 636 (2017)
  3. 3.
    Zeitschriftenartikel
    Hu, H.; Hübner, C.; Lukacs, Z.; Musante, L.; Gill, E.; Wienker, T. F.; Ropers, H. H.; Knierim, E.; Schuelke, M.: Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). European journal of human genetics 25 (2), S. 253 - 256 (2017)
  4. 4.
    Zeitschriftenartikel
    Iqbal, Z.; Püttmann, L.; Musante, L.; Razzaq, A.; Zahoor, M. Y.; Hu, H.; Wienker, T. F.; Garshasbi, M.; Fattahi, Z.; Gilissen, C. et al.; Vissers, L. E.; de Brouwer, A. P.; Veltman, J. A.; Pfundt, R.; Najmabadi, H.; Ropers, H. H.; Riazuddin, S.; Kahrizi, K.; van Bokhoven, H.: Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. European journal of human genetics 24 (3), S. 392 - 399 (2016)
  5. 5.
    Zeitschriftenartikel
    Hartmann, B.; Wai, T.; Hu, H.; MacVicar, T.; Musante, L.; Fischer-Zirnsak, B.; Stenzel, W.; Graf, R.; van den Heuvel, L.; Ropers, H. H. et al.; Wienker, T. F.; Hübner, C.; Langer, T.; Kaindl, A. M.: Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. eLife 5, e16078 (2016)
  6. 6.
    Zeitschriftenartikel
    Heidari, A.; Tongsook, C.; Najafipour, R.; Musante, L.; Vasli, N.; Garshasbi, M.; Hu, H.; Mittal, K.; McNaughton, A. J.; Sritharan, K. et al.; Hudson, M.; Stehr, H.; Talebi, S.; Moradi, M.; Darvish, H.; Arshad Rafiq, M.; Mozhdehipanah, H.; Rashidinejad, A.; Samiei, S.; Ghadami, M.; Windpassinger, C.; Gillessen-Kaesbach, G.; Tzschach, A.; Ahmed, I.; Mikhailov, A.; Stavropoulos, D. J.; Carter, M. T.; Keshavarz, S.; Ayub, M.; Najmabadi, H.; Liu, X.; Ropers, H. H.; Macheroux, P.; Vincent, J. B.: Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Human Molecular Genetics 24 (20), S. 5697 - 5710 (2015)
  7. 7.
    Zeitschriftenartikel
    Adegbola, A.; Musante, L.; Callewaert, B.; Maciel, P.; Hu, H.; Isidor, B.; Picker-Minh, S.; Le Caignec, C.; Delle Chiaie, B.; Vanakker, O. et al.; Menten, B.; Dheedene, A.; Bockaert, N.; Roelens, F.; Decaestecker, K.; Silva, J.; Soares, G.; Lopes, F.; Najmabadi, H.; Kahrizi, K.; Cox, G. F.; Angus, S. P.; Staropoli, J. F.; Fischer, U.; Suckow, V.; Bartsch, O.; Chess, A.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.; Kalscheuer, V. M.: Redefining the MED13L syndrome. European journal of human genetics 23 (10), S. 1308 - 1317 (2015)
  8. 8.
    Zeitschriftenartikel
    Ito, H.; Shiwaku, H.; Yoshida, C.; Homma, H.; Luo, H.; Chen, X.; Fujita, K.; Musante, L.; Fischer, U.; Frints, S. G. et al.; Romano, C.; Ikeuchi, Y.; Shimamura, T.; Imoto, S.; Miyano, S.; Muramatsu, S. I.; Kawauchi, T.; Hoshino, M.; Sudol, M.; Arumughan, A.; Wanker, E. E.; Rich, T.; Schwartz, C.; Matsuzaki, F.; Bonni, A.; Kalscheuer, V. M.; Okazawa, H.: In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells. Molecular Psychiatry 20 (4), S. 459 - 471 (2015)
  9. 9.
    Zeitschriftenartikel
    Iqbal, Z.; Willemsen, M. H.; Papon, M. A.; Musante, L.; Benevento, M.; Hu, H.; Venselaar, H.; Wissink-Lindhout, W. M.; Vulto-van Silfhout, A. T.; Vissers, L. E. et al.; de Brouwer, A. P.; Marouillat, S.; Wienker, T. F.; Ropers, H. H.; Kahrizi, K.; Nadif Kasri, N.; Najmabadi, H.; Laumonnier, F.; Kleefstra, T.; van Bokhoven, H.: Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. The American Journal of Human Genetics 96 (3), S. 386 - 396 (2015)
  10. 10.
    Zeitschriftenartikel
    Larti, F.; Kahrizi, K.; Musante, L.; Hu, H.; Papari, E.; Fattahi, Z.; Bazazzadegan, N.; Liu, Z.; Banan, M.; Garshasbi, M. et al.; Wienker, T. F.; Ropers, H.-H.; Galjart, N.; Najmabadi, H.: A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. European journal of human genetics 23 (3), S. 331 - 336 (2015)
  11. 11.
    Zeitschriftenartikel
    Davarniya, B.; Hu, H.; Kahrizi, K.; Musante, L.; Fattahi, Z.; Hosseini, M.; Maqsoud, F.; Farajollahi, R.; Wienker, T. F.; Ropers, H. H. et al.; Najmabadi, H.: The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. PLoS One 10 (8), e0129631 (2015)
  12. 12.
    Zeitschriftenartikel
    Hu, H.; Matter, M. L.; Issa-Jahns, L.; Jijiwa, M.; Kraemer, N.; Musante, L.; de la Vega, M.; Ninnemann, O.; Schindler, D.; Damatova, N. et al.; Eirich, K.; Sifringer, M.; Schrotter, S.; Eickholt, B. J.; van den Heuvel, L.; Casamina, C.; Stoltenburg-Didinger, G.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.: Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Annals of Clinical and Translational Neurology 1 (12), S. 1024 - 1035 (2014)
  13. 13.
    Zeitschriftenartikel
    Hu, H.; Wienker, T. F.; Musante, L.; Kalscheuer, V. M.; Kahrizi, K.; Najmabadi, H.; Ropers, H. H.: Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Human Mutation 35 (12), S. 1427 - 1435 (2014)
  14. 14.
    Zeitschriftenartikel
    Reuter, M. S.; Musante, L.; Hu, H.; Diederich, S.; Sticht, H.; Ekici, A. B.; Uebe, S.; Wienker, T. F.; Bartsch, O.; Zechner, U. et al.; Oppitz, C.; Keleman, K.; Jamra, R. A.; Najmabadi, H.; Schweiger, S.; Reis, A.; Kahrizi, K.: NDST1 missense mutations in autosomal recessive intellectual disability. American Journal of Medical Genetics Part A 164A (11), S. 2753 - 2763 (2014)
  15. 15.
    Zeitschriftenartikel
    Hu, H.; Suckow, V.; Musante, L.; Roggenkamp, V.; Kraemer, N.; Ropers, H. H.; Hübner, C.; Wienker, T. F.; Kaindl, A. M.: Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. Cell Cycle 13 (10), S. 1650 - 1651 (2014)
  16. 16.
    Zeitschriftenartikel
    Musante, L.; Ropers, H.-H.: Genetics of recessive cognitive disorders. Trends in Genetics 30 (1), S. 32 - 39 (2014)
  17. 17.
    Zeitschriftenartikel
    Puettmann, L.; Stehr, H.; Garshasbi, M.; Hu, H.; Kahrizi, K.; Lipkowitz, B.; Jamali, P.; Tzschach, A.; Najmabadi, H.; Ropers, H. H. et al.; Musante, L.; Kuss, A. W.: A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. American Journal of Medical Genetics Part A 161A (8), S. 1915 - 1922 (2013)
  18. 18.
    Zeitschriftenartikel
    Bainbridge, M. N.; Hu, H.; Muzny, D. M.; Musante, L.; Lupski, J. R.; Graham, B. H.; Chen, W.; Gripp, K. W.; Jenny, K.; Wienker, T. F. et al.; Yang, Y.; Sutton, V. R.; Gibbs, R. A.; Ropers, H. H.: De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine 5 (2) (2013)
  19. 19.
    Zeitschriftenartikel
    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), S. 717 - 20 (2011)
  20. 20.
    Zeitschriftenartikel
    Kunde, S. A.; Musante, L.; Grimme, A.; Fischer, U.; Muller, E.; Wanker, E. E.; Kalscheuer, V. M.: The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet 20 (24), S. 4916 - 31 (2011)
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