Prof. Dr. Bernd Wollnik

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unigoe
 

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  • 2015 | Journal Article | Research Paper
    ​ ​Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes​
    Bramswig, N. C.; Luedecke, H.-J.; Alanay, Y.; Albrecht, B.; Barthelmie, A.; Boduroglu, K. & Braunholz, D. et al.​ (2015) 
    Human Genetics, 134(6) pp. 553​-568​.​ DOI: https://doi.org/10.1007/s00439-015-1535-8 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article | Research Paper
    ​ ​RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome​
    Boegershausen, N.; Tsai, I.-C.; Pohl, E.; Kiper, P. O. S.; Beleggia, F.; Percin, E. F. & Keupp, K. et al.​ (2015) 
    Journal of Clinical Investigation, 125(9) pp. 3585​-3599​.​ DOI: https://doi.org/10.1172/JCI80102 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article
    ​ ​Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis​
    Keupp, K.; Li, Y. ; Vargel, I.; Hoischen, A.; Richardson, R.; Neveling, K. & Alanay, Y. et al.​ (2013) 
    Molecular Genetics & Genomic Medicine, 1(4) pp. 223​-237​.​ DOI: https://doi.org/10.1002/mgg3.28 
    ​Details  DOI 
  • 2013 | Journal Article | Research Paper
    ​ ​Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome​
    Czeschik, J. C.; Voigt, C.; Alanay, Y.; Albrecht, B.; Avci, S.; FitzPatrick, D. & Goudie, D. R. et al.​ (2013) 
    Human Genetics, 132(8) pp. 885​-898​.​ DOI: https://doi.org/10.1007/s00439-013-1295-2 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling​
    Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Steiner-Haldenstaett, S.; Pohl, E.; Li, Y.   & Milz, E. et al.​ (2013) 
    Human Molecular Genetics, 22(25) pp. 5121​-5135​.​ DOI: https://doi.org/10.1093/hmg/ddt366 
    ​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 mutation screen in patients with Kabuki syndrome​
    Li, Y. ; Boegershausen, N.; Alanay, Y.; Kiper, P. O. S.; Plume, N.; Keupp, K. & Pohl, E. et al.​ (2011) 
    Human Genetics, 130(6) pp. 715​-724​.​ DOI: https://doi.org/10.1007/s00439-011-1004-y 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article
    ​ ​Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia​
    Uz, E.; Alanay, Y.; Aktas, D.; Vargel, I.; Gucer, S.; Tuncbilek, G. & Eggeling, F. von et al.​ (2010) 
    American journal of human genetics, 86(5) pp. 789​-796​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.04.002 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article
    ​ ​ALX4 dysfunction disrupts craniofacial and epidermal development​
    Kayserili, H.; Uz, E.; Niessen, C.; Vargel, I.; Alanay, Y.; Tuncbilek, G. & Yigit, G.  et al.​ (2009) 
    Human Molecular Genetics, 18(22) pp. 4357​-4366​.​ DOI: https://doi.org/10.1093/hmg/ddp391 
    ​Details  DOI  PMID  PMC  WoS 

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