Author Ohlenbusch, Andreas

21 to 29 of 29 Items
  • 2014 | Journal Article | Letter Note
    ​ ​An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype​
    Lehmann, J.; Schubert, S.; Schaefer, A.; Apel, A.; Laspe, P.; Schiller, S. & Ohlenbusch, A. et al.​ (2014) 
    British Journal of Dermatology, 171(4) pp. 903​-905​.​ DOI: https://doi.org/10.1111/bjd.13035 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Conference Abstract
    ​ ​A NOVEL MUTATION IN THE XPA GENE RESULTS IN TWO TRUNCATED PROTEIN VARIANTS AND LEADS TO A SEVERE XP/NEUROLOGICAL SYMPTOMS PHENOTYPE​
    Lehmann, J.; Schubert, S.; Schaefer, A.; Laspe, P.; Ohlenbusch, A.; Gratchev, A. & Emmert, S.​ (2015)
    Anticancer Research, 35(6) 
    Athens​: Int Inst Anticancer Research.
    ​Details  WoS 
  • 2015 | Journal Article
    ​ ​A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype​
    Lehmann, J.; Schubert, S.; Schaefer, A.; Laspe, P.; Haenssle, H. A.; Ohlenbusch, A. & Gratchev, A. et al.​ (2015) 
    Journal of the European Academy of Dermatology and Venereology, 29(12) pp. 2479​-2482​.​ DOI: https://doi.org/10.1111/jdv.12841 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article
    ​ ​A unique chromosomal in-frame deletion identified among seven XP-C patients​
    Schubert, S.; Rieper, P.; Ohlenbusch, A.; Seebode, C.; Lehmann, J.; Gratchev, A. & Emmert, S.​ (2016) 
    Photodermatology Photoimmunology & Photomedicine, 32(5-6) pp. 276​-283​.​ DOI: https://doi.org/10.1111/phpp.12251 
    ​Details  DOI  PMID  PMC  WoS 
  • 2017 | Journal Article
    ​ ​Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease​
    Jaszczuk, I.; Schlotawa, L.; Dierks, T.; Ohlenbusch, A.; Koppenhöfer, D.; Babicz, M. & Lejman, M. et al.​ (2017) 
    Molecular Genetics and Metabolism, 121(3) pp. 252​-258​.​ DOI: https://doi.org/10.1016/j.ymgme.2017.05.013 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine​
    Lehmann, J.; Schubert, S.; Seebode, C.; Apel, A.; Ohlenbusch, A. & Emmert, S.​ (2017) 
    Oncotarget, 9(1) pp. 1012​-1027​.​ DOI: https://doi.org/10.18632/oncotarget.23105 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient​
    Schlotawa, L.; Dierks, T.; Christoph, S.; Cloppenburg, E.; Ohlenbusch, A.; Korenke, G. C. & Gärtner, J. ​ (2019) 
    JIMD Reports, 49(1) pp. 48​-52​.​ DOI: https://doi.org/10.1002/jmd2.12074 
    ​Details  DOI 
  • 2021 | Journal Article | Research Paper | 
    ​ ​A novel remitting leukodystrophy associated with a variant in FBP2​
    Gizak, A.; Diegmann, S.; Dreha-Kulaczewski, S.; Wiśniewski, J.; Duda, P.; Ohlenbusch, A. & Huppke, B. et al.​ (2021) 
    Brain Communications, 3(2) pp. fcab036​.​ DOI: https://doi.org/10.1093/braincomms/fcab036 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy​
    Reinert, M.-C.; Pacheu-Grau, D.; Catarino, C. B.; Klopstock, T.; Ohlenbusch, A.; Schittkowski, M. & Wilichowski, E. et al.​ (2021) 
    Orphanet Journal of Rare Diseases, 16(1) art. 64​.​ DOI: https://doi.org/10.1186/s13023-021-01690-y 
    ​Details  DOI  PMID  PMC 

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Göttingen All

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