Prof. Dr. Bernd Wollnik

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unigoe
 

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  • 2012 | Journal Article | Research Paper
    ​ ​A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss​
    von Ameln, S.; Wang, G.; Boulouiz, R.; Rutherford, M. A.; Smith, G. M.; Li, Y.   & Pogoda, H.-M. et al.​ (2012) 
    American journal of human genetics, 91(5) pp. 919​-927​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.09.002 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid​
    Laue, K.; Pogoda, H.-M.; Daniel, P. B.; van Haeringen, A.; Alanay, Y.; von Ameln, S. & Rachwalski, M. et al.​ (2011) 
    American journal of human genetics, 89(5) pp. 595​-606​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.09.015 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome​
    Borck, G.; Wunram, H.; Steiert, A.; Volk, A. E.; Koerber, F.; Roters, S. & Herkenrath, P. et al.​ (2011) 
    Human Genetics, 129(1) pp. 45​-50​.​ DOI: https://doi.org/10.1007/s00439-010-0896-2 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42​
    Borck, G.; Rehman, A. U.; Lee, K.; Pogoda, H.-M.; Kakar, N.; von Ameln, S. & Grillet, N. et al.​ (2011) 
    American journal of human genetics, 88(2) pp. 127​-137​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.12.011 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Letter Note
    ​ ​First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis​
    Li, Y. ; Pabst, S.; Kubisch, C.; Grohe, C. & Wollnik, B. ​ (2010) 
    Thorax, 65(10) pp. 939​-940​.​ DOI: https://doi.org/10.1136/thx.2010.138743 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​A Mutation in the Signal Sequence of LRP5 in a Family With an Osteoporosis-Pseudoglioma Syndrome (OPPG)-Like Phenotype Indicates a Novel Disease Mechanism for Trinucleotide Repeats​
    Chung, B.-D.; Kayserili, H.; Ai, M.; Freudenberg, J.; Uezmcue, A.; Uyguner, O. & Bartels, C. F. et al.​ (2009) 
    Human Mutation, 30(4) pp. 641​-648​.​ DOI: https://doi.org/10.1002/humu.20916 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Letter Note
    ​ ​A Novel Mutation in the Espin Gene Causes Autosomal Recessive Nonsyndromic Hearing Loss But No Apparent Vestibular Dysfunction in a Moroccan Family​
    Boulouiz, R.; Li, Y. ; Soualhine, H.; Abidi, O.; Chafik, A.; Nürnberg, G. & Becker, C. et al.​ (2008) 
    American Journal of Medical Genetics, 146A(23) pp. 3086​-3089​.​ DOI: https://doi.org/10.1002/ajmg.a.32525 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C​
    Boulouiz, R.; Li, Y. ; Abidi, O.; Bolz, H. J.; Chafik, A.; Kubisch, C. & Rouba, H. et al.​ (2007) 
    Molecular vision, 13(204-08) pp. 1862​-1865​.​
    ​Details  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss​
    Kalay, E.; Li, Y.; Uzumcu, A.; Uyguner, O.; Collin, R. W. J.; Caylan, R. & Ulubil-Emiroglu, M. et al.​ (2006) 
    Human Mutation, 27(7) pp. 633​-639​.​ DOI: https://doi.org/10.1002/humu.20368 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Mutations in different components of FGF signaling in LADD syndrome​
    Rohmann, E.; Brunner, H. G.; Kayserili, H.; Uyguner, O.; Nürnberg, G.; Lew, E. D. & Dobbie, A. et al.​ (2006) 
    Nature Genetics, 38(4) pp. 414​-417​.​ DOI: https://doi.org/10.1038/ng1757 
    ​Details  DOI  PMID  PMC  WoS 
  • 1997 | Journal Article | Research Paper
    ​ ​Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias​
    Wollnik, B. ; Schroeder, B. C.; Kubisch, C.; Esperer, H. D.; Wieacker, P. & Jentsch, T. J.​ (1997) 
    Human Molecular Genetics, 6(11) pp. 1943​-1949​.​ DOI: https://doi.org/10.1093/hmg/6.11.1943 
    ​Details  DOI  PMID  PMC  WoS 
  • 1993 | Journal Article | Research Paper
    ​ ​Immediate-early gene induction by repetitive mechanical but not electrical activity in adult rat cardiomyocytes​
    Kubisch, C.; Wollnik, B. ; Maass, A.; Meyer, R.; Vetter, H. & Neyses, L.​ (1993) 
    FEBS Letters, 335(1) pp. 37​-40​.​ DOI: https://doi.org/10.1016/0014-5793(93)80434-V 
    ​Details  DOI  PMID  PMC  WoS 

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