Prof. Dr. Bernd Wollnik

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  • 2015 | Journal Article
    ​ ​Mutations in CDK5RAP2 cause Seckel syndrome​
    Yigit, G. ; Brown, K. E.; Kayserili, H.; Pohl, E.; Caliebe, A.; Zahnleiter, D. & Rosser, E. et al.​ (2015) 
    Molecular Genetics & Genomic Medicine, 3(5) pp. 467​-480​.​ DOI: https://doi.org/10.1002/mgg3.158 
    ​Details  DOI 
  • 2012 | Journal Article | Research Paper | 
    ​ ​A large duplication involving the IHH locus mimics acrocallosal syndrome​
    Yüksel Apak, M.; Boegershausen, N.; Pawlik, B.; Li, Y. ; Apak, S.; Uyguner, O. & Milz, E. et al.​ (2012) 
    European Journal of Human Genetics, 20(6) pp. 639​-644​.​ DOI: https://doi.org/10.1038/ejhg.2011.250 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​A Novel Homozygous COL11A2 Deletion Causes a C-Terminal Protein Truncation With Incomplete mRNA Decay in a Turkish Patient​
    Kayserili, H.; Wollnik, B. ; Guven, G.; Emiroglu, M. U.; Baserer, N. & Uyguner, O.​ (2011) 
    American Journal of Medical Genetics, 155A(1) pp. 180​-185​.​ DOI: https://doi.org/10.1002/ajmg.a.33780 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article
    ​ ​CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children​
    Baş, F.; Kayserili, H.; Darendeliler, F.; Uyguner, O.; Günöz, H.; Yüksel Apak, M. & Atalar, F. et al.​ (2009) 
    Journal of Clinical Research in Pediatric Endocrinology, 1(3) pp. 116​-128​.​ DOI: https://doi.org/10.4008/jcrpe.v1i3.49 
    ​Details  DOI 
  • 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 
  • 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 | Research Paper
    ​ ​Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11​
    Hilgert, N.; Alasti, F.; Dieltjens, N.; Pawlik, B.; Wollnik, B. ; Uyguner, O. & Delmaghani, S. et al.​ (2008) 
    Clinical Genetics, 74(3) pp. 223​-232​.​ DOI: https://doi.org/10.1111/j.1399-0004.2008.01053.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​MY015A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation​
    Kalay, E.; Uzumcu, A.; Krieger, E.; Caylan, R.; Uyguner, O.; Ulubil-Emiroglu, M. & Erdol, H. et al.​ (2007) 
    American Journal of Medical Genetics, 143A(20) pp. 2382​-2389​.​ DOI: https://doi.org/10.1002/ajmg.a.31937 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3​
    Uyguner, O.; Kayserili, H.; Li, Y.; Karaman, B.; Nürnberg, G.; Hennies, H. C. & Becker, C. et al.​ (2007) 
    Clinical Genetics, 71(3) pp. 212​-219​.​ DOI: https://doi.org/10.1111/j.1399-0004.2007.00762.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Erratum | 
    ​ ​Erratum: 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. 495​-495​.​ DOI: https://doi.org/10.1038/ng0406-495 
    ​Details  DOI 
  • 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 
  • 2006 | Journal Article | Research Paper
    ​ ​The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome​
    Uyguner, O.; Siva, A.; Kayserili, H.; Saip, S.; Altintas, A.; Apak, M. Y. & Albayram, S. et al.​ (2006) 
    Journal of the Neurological Sciences, 246(1-2) pp. 123​-130​.​ DOI: https://doi.org/10.1016/j.jns.2006.02.021 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome​
    Uzumcu, A.; Norgett, E. E.; Dindar, A.; Uyguner, O.; Nisli, K.; Kayserili, H. & Sahin, S. E. et al.​ (2006) 
    Journal of Medical Genetics, 43(2) art. e5​.​ DOI: https://doi.org/10.1136/jmg.2005.032904 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter​
    Tukel, T.; Uzumcu, A.; Gezer, A.; Kayserili, H.; Apak, M. Y.; Uyguner, O. & Gultekin, S. et al.​ (2005) 
    Journal of Medical Genetics, 42(5) pp. 408​-415​.​ DOI: https://doi.org/10.1136/jmg.2004.026138 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency​
    Tukel, T.; Uyguner, O.; Wei, J. Q.; Yüksel Apak, M.; Saka, N.; Song, D. X. & Kayserili, H. et al.​ (2003) 
    The Journal of Clinical Endocrinology & Metabolism, 88(12) pp. 5893​-5897​.​ DOI: https://doi.org/10.1210/jc.2003-030813 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss​
    Uyguner, O.; Emiroglu, M. U.; Uzumcu, A.; Hafiz, G.; Ghanem, A.; Baserer, N. & Yüksel Apak, M. et al.​ (2003) 
    Clinical Genetics, 64(1) pp. 65​-69​.​ DOI: https://doi.org/10.1034/j.1399-0004.2003.00101.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations​
    Uyguner, O.; Jorge, E. G.; Cefle, A.; Baykal, T.; Kayserili, H.; Cefle, K. & Demirkol, M. et al.​ (2003) 
    Journal of Inherited Metabolic Disease, 26(1) pp. 17​-23​.​ DOI: https://doi.org/10.1023/A:1024063126954 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome​
    Wollnik, B. ; Tukel, T.; Uyguner, O.; Ghanem, A.; Kayserili, H.; Emiroglu, M. U. & Yüksel Apak, M.​ (2003) 
    American Journal of Medical Genetics, 122A(1) pp. 42​-45​.​ DOI: https://doi.org/10.1002/ajmg.a.20260 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor​
    Utku, U.; Celik, Y.; Uyguner, O.; Yüksel Apak, M. & Wollnik, B. ​ (2002) 
    European Journal of Neurology, 9(1) pp. 23​-28​.​ DOI: https://doi.org/10.1046/j.1468-1331.2002.00344.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family​
    Wollnik, B. ; Kayserili, H.; Uyguner, O.; Tukel, T. & Yüksel Apak, M.​ (2002) 
    Annales de Génétique, 45(4) art. PII S0003-3995(02)01144-9​.​ DOI: https://doi.org/10.1016/S0003-3995(02)01144-9 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family​
    Uyguner, O.; Tukel, T.; Baykal, C.; Eris, H.; Emiroglu, M. U.; Hafiz, G. & Ghanem, A. et al.​ (2002) 
    Clinical Genetics, 62(4) pp. 306​-309​.​ DOI: https://doi.org/10.1034/j.1399-0004.2002.620409.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​HKChIP2 is a functional modifier of hKv4.3 potassium channels: Cloning and expression of a short hKChIP2 splice variant​
    Decher, N.; Uyguner, O.; Scherer, C. R.; Karaman, B.; Yüksel Apak, M.; Busch, A. E. & Steinmeyer, K. et al.​ (2001) 
    Cardiovascular Research, 52(2) art. PII S0008-6363(01)00374-1​.​ DOI: https://doi.org/10.1016/S0008-6363(01)00374-1 
    ​Details  DOI  PMID  PMC  WoS 

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