Bernd Wollnik

Summary

Affiliation: Istanbul University
Country: Turkey

Publications

  1. ncbi Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family
    Bernd Wollnik
    Institute of Child Health, Division of Medical Genetics, Istanbul University, Millet Cad, Capa, 34390, Istanbul, Turkey
    Ann Genet 45:213-7. 2002
  2. ncbi Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss
    O Uyguner
    Division of Medical Genetics, Child Health Institute, Istanbul University, Istanbul, Turkey
    Clin Genet 64:65-9. 2003
  3. ncbi Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
    Bernd Wollnik
    Division of Medical Genetics, Child Health Institute, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 122:42-5. 2003
  4. doi A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient
    Hulya Kayserili
    Medical Genetics Department, Istanbul University, Turkey
    Am J Med Genet A 155:180-5. 2011
  5. doi ALX4 dysfunction disrupts craniofacial and epidermal development
    Hulya Kayserili
    Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    Hum Mol Genet 18:4357-66. 2009
  6. pmc CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children
    Firdevs Bas
    Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul, Turkey
    J Clin Res Pediatr Endocrinol 1:116-28. 2009
  7. pmc A large duplication involving the IHH locus mimics acrocallosal syndrome
    Memnune Yuksel-Apak
    Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    Eur J Hum Genet 20:639-44. 2012
  8. ncbi Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region
    Nursel H Elcioglu
    Genetic Disorders Unit, Department of Pediatrics, Marmara University Medical Faculty, Istanbul, Turkey
    Am J Med Genet A 143:1308-12. 2007
  9. ncbi Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)
    Robert Hering
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    Hum Mutat 24:321-9. 2004
  10. ncbi [Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss]
    Fusun Duzcan
    Department of Medical Biology, Medicine Faculty of Pamukkale University, Denizli, Turkey
    Kulak Burun Bogaz Ihtis Derg 11:85-8. 2003

Collaborators

Detail Information

Publications25

  1. ncbi Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family
    Bernd Wollnik
    Institute of Child Health, Division of Medical Genetics, Istanbul University, Millet Cad, Capa, 34390, Istanbul, Turkey
    Ann Genet 45:213-7. 2002
    ..Our findings indicate that ulnar-mammary syndrome shows a wide range of phenotypes even within the same family and provide further evidence that haploinsufficiency of TBX3 is the disease-causing mechanism...
  2. ncbi Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss
    O Uyguner
    Division of Medical Genetics, Child Health Institute, Istanbul University, Istanbul, Turkey
    Clin Genet 64:65-9. 2003
    ..Furthermore, mutations in other gap- and tight-junction proteins are not a frequent cause of hearing loss in Turkey...
  3. ncbi Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
    Bernd Wollnik
    Division of Medical Genetics, Child Health Institute, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 122:42-5. 2003
    ..Molecular analysis of four additional Turkish families with variable clinical expression of WS-I identified two missense mutations, one splice-site mutation, and one small insertion in the PAX3 gene...
  4. doi A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient
    Hulya Kayserili
    Medical Genetics Department, Istanbul University, Turkey
    Am J Med Genet A 155:180-5. 2011
    ....
  5. doi ALX4 dysfunction disrupts craniofacial and epidermal development
    Hulya Kayserili
    Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    Hum Mol Genet 18:4357-66. 2009
    ..Hair follicle-like structures were present but showed altered differentiation. Our data indicate that ALX4 plays a critical role both in craniofacial development as in skin and hair follicle development in human...
  6. pmc CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children
    Firdevs Bas
    Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul, Turkey
    J Clin Res Pediatr Endocrinol 1:116-28. 2009
    ..Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene...
  7. pmc A large duplication involving the IHH locus mimics acrocallosal syndrome
    Memnune Yuksel-Apak
    Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    Eur J Hum Genet 20:639-44. 2012
    ..To our knowledge, this is the first report of a human phenotype similar to the Dbf mutant and strikingly overlapping with ACS that is caused by a copy number variation involving the IHH locus on chromosome 2q35...
  8. ncbi Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region
    Nursel H Elcioglu
    Genetic Disorders Unit, Department of Pediatrics, Marmara University Medical Faculty, Istanbul, Turkey
    Am J Med Genet A 143:1308-12. 2007
    ..Macrophthalmia, colobomatous, with microcornea (MACOM) is proposed as the gene symbol for this malformation linked to 2p23-p16...
  9. ncbi Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)
    Robert Hering
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    Hum Mutat 24:321-9. 2004
    ....
  10. ncbi [Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss]
    Fusun Duzcan
    Department of Medical Biology, Medicine Faculty of Pamukkale University, Denizli, Turkey
    Kulak Burun Bogaz Ihtis Derg 11:85-8. 2003
    ..Molecular analysis of the index patient documented that autosomal recessive non-syndromic hearing loss resulted from the homozygous 35delG mutation in the connexin 26 gene...
  11. pmc The antihistamine fexofenadine does not affect I(Kr) currents in a case report of drug-induced cardiac arrhythmia
    Constanze R Scherer
    Aventis Pharma Deutschland GmbH, Cardiovascular Diseases, 65926 Frankfurt am Main, Germany
    Br J Pharmacol 137:892-900. 2002
    ..Our results strongly indicate that QT lengthening and cardiac arrhythmia in the reported case of drug-induced LQT are not due to the K897T exchange or to an inhibitory effect of fexofenadine on cardiac I(Kr) currents. British Journal of..
  12. pmc Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35
    Rob W J Collin
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 82:125-38. 2008
    ..Our data indicate that ESRRB is essential for inner-ear development and function. To our knowledge, this is the first report of pathogenic mutations of an estrogen-related receptor gene...
  13. ncbi Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C
    Redouane Boulouiz
    Department of Genetics, Institute Pasteur du Maroc, Casablanca, Morocco
    Mol Vis 13:1862-5. 2007
    ..Molecular genetic diagnosis in Usher syndrome is well established and identification of the underlying mutations in Usher patients is important for confirmation of the clinical diagnosis and genetic counseling...
  14. ncbi MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
    Ersan Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 143:2382-9. 2007
    ....
  15. pmc Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
    Laura Crisponi
    Istituto di Neurogenetica e Neurofarmacologia Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Italy
    Am J Hum Genet 80:971-81. 2007
    ..We suggest that the syndromes can comprise a family of "CNTF-receptor-related disorders," of which Crisponi syndrome would be the newest member and allelic to CISS1...
  16. pmc Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation
    Erin D Lew
    Department of Pharmacology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA
    Proc Natl Acad Sci U S A 104:19802-7. 2007
    ....
  17. pmc Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway
    Imad Shams
    Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520, USA
    Mol Cell Biol 27:6903-12. 2007
    ....
  18. ncbi Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment
    Rob W J Collin
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 28:718-23. 2007
    ..Together, our data indicate that also nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population...
  19. pmc Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
    Charles Antzelevitch
    Masonic Medical Research Laboratory, 2150 Bleecker St, Utica, NY 13501, USA
    Circulation 115:442-9. 2007
    ..We describe a new clinical entity that consists of an ST-segment elevation in the right precordial ECG leads, a shorter-than-normal QT interval, and a history of sudden cardiac death...
  20. ncbi Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
    Ersan Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 27:633-9. 2006
    ..Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea...
  21. ncbi Phenotype reveals genotype in a Greek long QT syndrome family
    Aris Anastasakis
    Division of Inherited Cardiovascular Diseases, 1st Department of Cardiology, University of Athens Medical School, l99 Michalakopoulou Street, Athens 11528, Greece
    Europace 8:241-4. 2006
    ..Thus, genotype-phenotype correlations are often a helpful tool in the management of LQTS patients and their families...
  22. ncbi Mutations in different components of FGF signaling in LADD syndrome
    Edyta Rohmann
    Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany
    Nat Genet 38:414-7. 2006
    ..These findings increase the spectrum of anomalies associated with abnormal FGF signaling...
  23. ncbi A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification
    Ilana Chefetz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, 9602, Haifa, Israel
    Hum Genet 118:261-6. 2005
    ..The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC...
  24. pmc Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
    William A Paznekas
    Department of Pediatrics, Center for Craniofacial Development and Disorders, McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 72:408-18. 2003
    ..Expression patterns and phenotypic features of gja1 animal mutants, reported elsewhere, are compatible with the pleiotropic clinical presentation of oculodentodigital dysplasia...
  25. ncbi Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family
    Serap Ozden
    Department of Ophthalmology, Medical Faculty, Pamukkale University, Denizli, Turkey
    Ophthalmic Genet 23:29-36. 2002
    ..To describe the clinical features, mode of inheritance, and linkage analysis of ten affected members of a three-generation family with progressive optic atrophy and progressive hearing loss...