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Bernd Wollnik

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TOP 3
N Bögershausen; E Bruford; Bernd Wollnik
Response to Diaz.
N Bögershausen; Bernd Wollnik
Unmasking Kabuki syndrome.
N Bögershausen; E Bruford; Bernd Wollnik
Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.

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All Publications

2013: N Bögershausen; E Bruford; Bernd Wollnik
Response to Diaz.
Clinical genetics 2013;83(3):296.
2013: N Bögershausen; Bernd Wollnik
Unmasking Kabuki syndrome.
Clinical genetics 2013;83(3):201-11.
2013: N Bögershausen; E Bruford; Bernd Wollnik
Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.
Clinical genetics 2013;83(3):212-4.
2013: Nadine Reintjes; Edyta Rohmann; Rita Schmutzler; Alexandra Becker; Yun Li; Bernd Wollnik
Activating somatic FGFR2 mutations in breast cancer.
PloS one 2013;8(3):e60264.
2012: Simon von Ameln; Geng Wang; Bernd Wollnik; Omar Abidi; Abdelhamid Barakat; Guntram Borck; Redouane Boulouiz; Richard J Goodyear; Matthias Hammerschmidt; Kay Hofmann; Jason S Hong; Carla M Koehler; Yun Li; Tobias Moser; Gudrun Nürnberg; Peter Nürnberg; Hans-Martin Pogoda; Guy P Richardson; Mark A Rutherford; Geoffrey M Smith; Barbara Stiller; Michael A Teitell; Alexander E Volk; Christian Kubisch
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
American journal of human genetics 2012;91(5):919-27.
2012: Oliver Semler; Daniel Swan; Brunhilde Wirth; Bernd Wollnik; Katharina Zimmermann; Eckhard Schoenau; Jutta Becker; Stefan K Bohlander; Peer Eysel; Lutz Garbes; Sandra Iden; Katharina Keupp; Friederike Koerber; Christian Netzer
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
American journal of human genetics 2012;91(2):349-57.
2012: Memnune Yuksel-Apak; Selcuk Apak; Nina Bögershausen; Karl-Heinz Grzeschik; Ayan Gülgören; Birsen Karaman; Hulya Kayserili; Yun Li; Esther Milz; Gudrun Nürnberg; Peter Nürnberg; Barbara Pawlik; Oya Uyguner; Bernd Wollnik
A large duplication involving the IHH locus mimics acrocallosal syndrome.
European journal of human genetics : EJHG 2012;20(6):639-44.
2012: P V Asharani; Jutta Becker; Nurten A Akarsu; Janine Altmüller; Peter Frommolt; Daniel S Greenspan; Matthias Hammerschmidt; Katharina Keupp; Yun Li; Christian Netzer; Peter Nürnberg; Esther Pohl; Eckhard Schönau; Oliver Semler; Carmen Sonntag; Holger Thiele; Wenshen Wang; Radu Wirth; Bernd Wollnik; Gökhan Yigit; Katharina Zimmermann; Thomas J Carney
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
American journal of human genetics 2012;90(4):661-74.
2011: Yun Li; Esther Milz; Barbara Pawlik; Nadine Plume; Esther Pohl; Eva-Christina Prott; Martin Rachwalski; Pelin Ozlem Simsek Kiper; Michaela Thoenes; Gülen Eda Utine; Dagmar Wieczorek; Yasemin Alanay; Beate Albrecht; Koray Boduroglu; Nina Bögershausen; Guntram Borck; Stephanie Demuth; Katja Frankenbusch; Gabriele Gillessen-Kaesbach; Katharina Keupp; Margret Lehmkühler; Gökhan Yigit; Bernd Wollnik
A mutation screen in patients with Kabuki syndrome.
Human genetics 2011;130(6):715-24.
2011: Kathrin Laue; Tim Morgan; Peter Nikkels; Hans-Martin Pogoda; Martin Rachwalski; Yasemin Alanay; Wilhelm Bloch; Martijn H Breuning; Philip B Daniel; Mary J Gray; Matthias Hammerschmidt; Christian Kubisch; Gregory M Sawyer; Andrew J Sutherland-Smith; Arie van Haeringen; Simon von Ameln; Bernd Wollnik; Stephen P Robertson
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
American journal of human genetics 2011;89(5):595-606.
2011: Jutta Becker; Oliver Semler; Christian Gilissen; Yun Li; Hanno Jörn Bolz; Cecilia Giunta; Carsten Bergmann; Marianne Rohrbach; Friederike Koerber; Katharina Zimmermann; Petra de Vries; Brunhilde Wirth; Eckhard Schoenau; Bernd Wollnik; Joris Veltman; Alexander Hoischen; Christian Netzer
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
American journal of human genetics 2011;88(3):362-71.
2011: Hulya Kayserili; Bernd Wollnik; GS Güven; Melike Ulubil Emiroğlu; Nermin Başerer; Z Oya Uyguner
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
American journal of medical genetics. Part A 2011;155A(1):180-5.
2011: Guntram Borck; Heidrun Wunram; Angela Steiert; Alexander E Volk; Friederike Körber; Sigrid Roters; Peter Herkenrath; Bernd Wollnik; Deborah J Morris-Rosendahl; Christian Kubisch
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
Human genetics 2011;129(1):45-50.
2010: Yun Li; Kathrin Laue; Samia A Temtamy; Mona Aglan; L Damla Kotan; Gökhan Yigit; Husniye Canan; Barbara Pawlik; Gudrun Nürnberg; Emma L Wakeling; Oliver W Quarrell; Ingelore Baessmann; Matthew B Lanktree; Mustafa Yilmaz; Robert A Hegele; Khalda Amr; Klaus W May; Peter Nürnberg; A Kemal Topaloglu; Matthias Hammerschmidt; Bernd Wollnik
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
American journal of human genetics 2010;87(6):757-67.
2010: Bernd Wollnik
A common mechanism for microcephaly.
Nature genetics 2010;42(11):923-4.
2010: Yun Li; Stefan Pabst; Christian Kubisch; Christian Grohé; Bernd Wollnik
First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis.
Thorax 2010;65(10):939-40.
2010: Yun Li; Barbara Pawlik; Nursel Elcioglu; Mona Aglan; Hulya Kayserili; Gökhan Yigit; Ferda Percin; Frances Goodman; Gudrun Nürnberg; Asim Cenani; Jill Urquhart; Boi-Dinh Chung; Samira Ismail; Khalda Amr; Ayca D Aslanger; Christian Becker; Christian Netzer; Peter J Scambler; Wafaa Eyaid; Hanan Hamamy; Jill Clayton-Smith; Raoul Hennekam; Peter Nürnberg; Joachim Herz; Samia A Temtamy; Bernd Wollnik
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
American journal of human genetics 2010;86(5):696-706.
2010: Yun Li; Esther Pohl; Redouane Boulouiz; Margit Schraders; Gudrun Nürnberg; Majida Charif; Ronald J C Admiraal; Simon von Ameln; Ingelore Baessmann; Mostafa Kandil; Joris Veltman; Peter Nürnberg; Christian Kubisch; Abdelhamid Barakat; Hannie Kremer; Bernd Wollnik
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
American journal of human genetics 2010;86(3):479-84.
2010: B Pawlik; A Mir; H Iqbal; Yun Li; Gudrun Nürnberg; Christian Becker; R Qamar; Peter Nürnberg; Bernd Wollnik
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.
Molecular syndromology 2010;1(1):27-34.
2009: Sagi Nahum; Sandra M Pasternack; Jana Pforr; Margarita Indelman; Bernd Wollnik; Reuven Bergman; Markus M Nöthen; Arne König; Ziad Khamaysi; Regina C Betz; Eli Sprecher
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
Archives of dermatological research 2009;301(5):391-3.
2009: Boi-Dinh Chung; Hulya Kayserili; Minrong Ai; Jan Freudenberg; Abdullah Uzümcü; Oya Uyguner; Cynthia F Bartels; Stefan Höning; Alfredo Ramirez; Franz-Georg Hanisch; Gudrun Nürnberg; Peter Nürnberg; Matthew L Warman; Bernd Wollnik; Christian Kubisch; Christian Netzer
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.
Human mutation 2009;30(4):641-8.
2009: Burak Durmaz; Bernd Wollnik; Ozgur Cogulu; Yun Li; Hasan Tekgul; Filiz Hazan; Ferda Ozkinay
Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings.
Journal of neurology 2009;256(3):416-9.
2009: Firdevs Baş; Hulya Kayserili; Feyza Darendeliler; Oya Uyguner; Hülya Günöz; Memnune Yüksel-Apak; Fatmahan Atalar; Rüveyde Bundak; Robert C Wilson; Maria I New; Bernd Wollnik; Nurçin Saka
CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
Journal of clinical research in pediatric endocrinology 2009;1(3):116-28.
2008: Redouane Boulouiz; Yun Li; hafid soualhine; Omar Abidi; Abdelaziz Chafik; Gudrun Nürnberg; Christian Becker; Peter Nürnberg; Christian Kubisch; Bernd Wollnik; Abdelhamid Barakat
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.
American journal of medical genetics. Part A 2008;146A(23):3086-9.
2008: Can Hasdemir; Hikmet H Aydin; Selen Sahin; Bernd Wollnik
Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor.
Anadolu kardiyoloji dergisi : AKD = the Anatolian journal of cardiology 2008;8(5):E35-6.
2008: N Hilgert; F Alasti; Nele Dieltjens; B Pawlik; Bernd Wollnik; O Uyguner; S Delmaghani; D Weil; C Petit; E Danis; T Yang; E Pandelia; Michael B Petersen; Dirk Goossens; J D Favero; Mohammad Hossein Sanati; R J H Smith; Guy Van Camp
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
Clinical genetics 2008;74(3):223-32.
2008: Rob W J Collin; Ersan Kalay; Muhammad Tariq; Theo Peters; Bert van der Zwaag; Hanka Venselaar; Jaap Oostrik; Kwanghyuk Lee; Zubair M Ahmed; Refik Caylan; Yun Li; Henk A Spierenburg; Erol Eyupoglu; Angelien Heister; Saima Riazuddin; Elif Bahat; Muhammad Ansar; Selcuk Arslan; Bernd Wollnik; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Wasim Ahmad; Frans P M Cremers; Gert Vriend; Thomas B Friedman; Sheikh Amer Riazuddin; Suzanne M Leal; Hannie Kremer
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
American journal of human genetics 2008;82(1):125-38.
2008: Yuksel Kaplan; I Vargel; Tulay Kansu; B Akin; Edyta Rohmann; S Kamaci; E Uz; Tayfun Ozcelik; Bernd Wollnik; Nurten A Akarsu
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.
The British journal of ophthalmology 2008;92(1):135-41.
2008: Stefan Pabst; Bernd Wollnik; Edyta Rohmann; Y Hintz; K Glänzer; Hans Vetter; Georg Nickenig; Christian Grohé
A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.
Clinical research in cardiology : official journal of the German Cardiac Society 2008;97(1):39-42.
2007: Erin Lew; Jae Hyun Bae; Edyta Rohmann; Bernd Wollnik; Joseph Schlessinger
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(50):19802-7.
2007: Ersan Kalay; Abdullah Uzumcu; Elmar Krieger; Refik Caylan; Oya Uyguner; Melike Ulubil-Emiroglu; Hidayet Erdol; Hulya Kayserili; Gunter Hafiz; Nermin Başerer; Angelien J G M Heister; Hans Christian Hennies; Peter Nürnberg; Seher Başaran; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Bernd Wollnik; Hannie Kremer
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.
American journal of medical genetics. Part A 2007;143A(20):2382-9.
2007: Imad Shams; Edyta Rohmann; Veraragavan Eswarakumar; Erin Lew; satoru yuzawa; Bernd Wollnik; Joseph Schlessinger; Irit Lax
Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway.
Molecular and cellular biology 2007;27(19):6903-12.
2007: Rob W J Collin; Ersan Kalay; Jaap Oostrik; Refik Caylan; Bernd Wollnik; Selçuk Arslan; Anneke I den Hollander; Yelda Birinci; Peter Lichtner; Tim M Strom; Bayram Toraman; Lies Hoefsloot; Cor W R J Cremers; Han G Brunner; Frans P M Cremers; Ahmet Karaguzel; Hannie Kremer
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Human mutation 2007;28(7):718-23.
2007: Nursel Elcioglu; Burcu Akin; Ebru Toker; Mustafa Elcioglu; Ali Kaya; Timur Tuncali; Bernd Wollnik; Stella Hornby; Nurten A Akarsu
Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region.
American journal of medical genetics. Part A 2007;143A(12):1308-12.
2007: Laura Crisponi; Giangiorgio Crisponi; Alessandra Meloni; Mohammad R Toliat; Gudrun Nurnberg; Gianluca Usala; Manuela Uda; Marco Masala; Wolfgang Hohne; Christian Becker; Mara Marongiu; Francesca Chiappe; Robert Kleta; Anita Rauch; Bernd Wollnik; Friedrich Strasser; Thomas Reese; Cornelis Jakobs; Gerhard Kurlemann; Antonio Cao; Peter Nurnberg; Frank Rutsch
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
American journal of human genetics 2007;80(5):971-81.
2007: Oya Uyguner; Hulya Kayserili; Yun Li; Birsen Karaman; Gudrun Nürnberg; Hans Christian Hennies; Christian Becker; Peter Nürnberg; S Başaran; Memnune Y Apak; Bernd Wollnik
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.
Clinical genetics 2007;71(3):212-9.
2007: Charles Antzelevitch; Guido D Pollevick; Jonathan M Cordeiro; Oscar Casis; Michael C Sanguinetti; Yoshiyasu Aizawa; Alejandra Guerchicoff; Ryan Pfeiffer; Antonio Oliva; Bernd Wollnik; Philip Gelber; Elias P Bonaros; Elena Burashnikov; Yuesheng Wu; John D Sargent; Stefan Schickel; Ralf Oberheiden; Atul Bhatia; Li-Fern Hsu; Michel Haïssaguerre; Rainer Schimpf; Martin Borggrefe; Christian Wolpert
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.
Circulation 2007;115(4):442-9.
2007: Redouane Boulouiz; Yun Li; Omar Abidi; Hanno Bolz; Abdelaziz Chafik; Christian Kubisch; Hassan Roub; Bernd Wollnik; Abdelhamid Barakat
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.
Molecular vision 2007;13():1862-5.
2006: Z O Uyguner; Aksel Siva; Hulya Kayserili; Sabahattin Saip; A Altintaş; Memnune Y Apak; Sait Albayram; N Işik; Gülsen Akman-Demir; M Taşyürekli; Buge Oz; Bernd Wollnik
The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome.
Journal of the neurological sciences 2006;246(1-2):123-30.
2006: Ersan Kalay; Yun Li; Abdullah Uzumcu; Oya Uyguner; Rob W J Collin; Refik Caylan; Melike Ulubil-Emiroglu; Ferry F J Kersten; Gunter Hafiz; Erwin van Wijk; Hulya Kayserili; Edyta Rohmann; Janine Wagenstaller; Lies Hoefsloot; Tim M Strom; Gudrun Nürnberg; Nermin Baserer; Anneke I den Hollander; Frans P M Cremers; Cor W R J Cremers; Christian Becker; Han G Brunner; Peter Nürnberg; Ahmet Karaguzel; Seher Basaran; Christian Kubisch; Hannie Kremer; Bernd Wollnik
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Human mutation 2006;27(7):633-9.
2006: Aris Anastasakis; Christina-Maria Kotta; Stavros Kyriakogonas; Bernd Wollnik; Artemisia Theopistou; Christodoulos I Stefanadis
Phenotype reveals genotype in a Greek long QT syndrome family.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2006;8(4):241-4.
2006: Edyta Rohmann; Han G Brunner; Hulya Kayserili; Oya Uyguner; Gudrun Nürnberg; Erin Lew; Angus Dobbie; Veraragavan Eswarakumar; Abdullah Uzumcu; Melike Ulubil-Emeroglu; Jules G Leroy; Yun Li; Christian Becker; Kai Lehnerdt; Cor W R J Cremers; Memnune Yüksel-Apak; Peter Nürnberg; Christian Kubisch; Chriütian Kubisch; Joseph Schlessinger; Hans van Bokhoven; Bernd Wollnik
Mutations in different components of FGF signaling in LADD syndrome.
Nature genetics 2006;38(4):414-7.
2006: Y Li; Bernd Wollnik; Stefan Pabst; M Lennarz; Edyta Rohmann; A Gillissen; H Vetter; C Grohé
BTNL2 gene variant and sarcoidosis.
Thorax 2006;61(3):273-4.
2006: Abdullah Uzumcu; Elizabeth E Norgett; Aygun Dindar; Oya Uyguner; Kemal Nisli; Hulya Kayserili; S E Sahin; E Dupont; N J Severs; Irene M Leigh; Memnune Yuksel-Apak; David P Kelsell; Bernd Wollnik
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
Journal of medical genetics 2006;43(2):e5.
2005: Ersan Kalay; Arjan de Brouwer; Refik Caylan; Sander B Nabuurs; Bernd Wollnik; Ahmet Karaguzel; J G A M Heister; Hidayet Erdol; Frans P M Cremers; Cor W R J Cremers; Han G Brunner; Hannie Kremer
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Journal of molecular medicine (Berlin, Germany) 2005;83(12):1025-32.
2005: Ilana Chefetz; Raoul Heller; Assimina Galli-Tsinopoulou; Gabriele Richard; Bernd Wollnik; Margarita Indelman; Friederike Koerber; Orit Topaz; Reuven Bergman; Eli Sprecher; Eckhard Schoenau
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
Human genetics 2005;118(2):261-6.
2005: Turgut Tukel; Abdullah Uzumcu; A Gezer; Hulya Kayserili; Memnune Yuksel-Apak; Oya Uyguner; Sakir Humayun Gultekin; Hans Christian Hennies; Peter Nurnberg; Robert J Desnick; Bernd Wollnik
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.
Journal of medical genetics 2005;42(5):408-15.
2004: Robert Hering; Karsten M Strauss; Xiao Tao; Andreas Bauer; Dirk Woitalla; Eva-Maria Mietz; Slobodanka Petrovic; Peter Bauer; Wilhelm Schaible; Thomas Müller; Ludger Schöls; Christine Klein; Daniela Berg; Philipp T Meyer; Jörg B Schulz; Bernd Wollnik; Liang Tong; Rejko Krüger; Olaf Riess
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
Human mutation 2004;24(4):321-9.
2004: Seher Basaran; A Engur; M Aytan; Birsen Karaman; Asadollah Ghanbari; GÜVEN TOKSOY; Atil Yuksel; D Cankat; E Kervancioglu; Bernd Wollnik; M Bahceci; Memnune Yuksel-Apak
The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses.
Fetal diagnosis and therapy 2004;19(4):313-8.
2003: Turgut Tukel; Oya Uyguner; JQ Wei; Memnune Yuksel-Apak; Nurçin Saka; D X Song; Hulya Kayserili; Firdevs Bas; Hulya Gunoz; Robert C Wilson; Maria I New; Bernd Wollnik
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.
The Journal of clinical endocrinology and metabolism 2003;88(12):5893-7.
2003: Bernd Wollnik; Turgut Tukel; Oya Uyguner; Asadollah Ghanbari; Hulya Kayserili; Melike Emiroglu; Memnune Yuksel-Apak
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
American journal of medical genetics. Part A 2003;122A(1):42-5.
2003: Füsun Düzcan; Bernd Wollnik; Emre Tepeli; Fazil Necdet Ardiç; Oya Uyguner; Hüseyin Bağci
[Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss].
Kulak burun boğaz ihtisas dergisi : KBB = Journal of ear, nose, and throat 2003;11(3):85-8.
2003: Oya Uyguner; Melike Emiroglu; Abdullah Uzumcu; Gunter Hafiz; Asadollah Ghanbari; Nermin Baserer; Memnune Yuksel-Apak; Bernd Wollnik
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.
Clinical genetics 2003;64(1):65-9.
2003: Birsen Karaman; Bernd Wollnik; H Ermiş; Memnune Yüksel-Apak; S Başaran
A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.
Prenatal diagnosis 2003;23(4):336-9.
2003: William A Paznekas; Simeon Boyd; Robert E Shapiro; Otto Daniels; Bernd Wollnik; Catherine E Keegan; Jeffrey W Innis; Mary Beth Dinulos; Cathy Christian; Mark C Hannibal; Ethylin Jabs
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
American journal of human genetics 2003;72(2):408-18.
2003: Oya Uyguner; E Goicoechea de Jorge; Ayse Cefle; Tolunay Baykal; Hulya Kayserili; Kivanc Cefle; Mübeccel Demirkol; Memnune Yuksel-Apak; S Rodriguez de Córdoba; Bernd Wollnik
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.
Journal of inherited metabolic disease 2003;26(1):17-23.
2002: Constanze R Scherer; Christian Lerche; Niels Decher; Adrienne T Dennis; Patrick Maier; Eckhard Ficker; Andreas E Busch; Bernd Wollnik; Klaus Steinmeyer
The antihistamine fexofenadine does not affect I(Kr) currents in a case report of drug-induced cardiac arrhythmia.
British journal of pharmacology 2002;137(6):892-900.
2002: Bernd Wollnik; Hulya Kayserili; Oya Uyguner; Turgut Tukel; Memnune Yuksel-Apak
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.
Annales de génétique 2002;45(4):213-7.
2002: Oya Uyguner; Turgut Tukel; Can Baykal; H Eris; Melike Emiroglu; Gunter Hafiz; Asadollah Ghanbari; Nermin Baserer; Memnune Yuksel-Apak; Bernd Wollnik
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
Clinical genetics 2002;62(4):306-9.
2002: Serap Ozden; Füsun Düzcan; Bernd Wollnik; Ozan G Cetin; Türker Sahiner; Ismet Bayramoğlu; Memnune Yüksel-Apak; Hüseyin Bağci
Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family.
Ophthalmic genetics 2002;23(1):29-36.
2002: Simeon Boyd; Arnab B Chowdry; Robert E Shapiro; William A Paznekas; A E Wandstrat; J W Choi; Laura Kasch; G Zhang; Bernd Wollnik; Catherine E Burgess; Martin Schalling; Michael Lovett; Ethylin Jabs
Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms.
Cytogenetic and genome research 2002;98(1):29-37.
2002: Ufuk Utku; Yahya Celik; Oya Uyguner; Memnune Yüksel-Apak; Bernd Wollnik
CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2002;9(1):23-8.
2001: Niels Decher; Oya Uyguner; Constanze R Scherer; Birsen Karaman; Memnune Yüksel-Apak; Andreas E Busch; Klaus Steinmeyer; Bernd Wollnik
hKChIP2 is a functional modifier of hKv4.3 potassium channels: cloning and expression of a short hKChIP2 splice variant.
Cardiovascular research 2001;52(2):255-64.
2001: Sibylle Jakubiczka; Thomas Bettecken; G Koch; B Tüysüz; Bernd Wollnik; Peter Wieacker
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.
Clinical dysmorphology 2001;10(3):197-201.
1998: Michael Pusch; R Magrassi; Bernd Wollnik; F Conti
Activation and inactivation of homomeric KvLQT1 potassium channels.
Biophysical journal 1998;75(2):785-92.
1997: Bernd Wollnik; Björn C Schroeder; Christian Kubisch; H D Esperer; P Wieacker; Thomas J Jentsch
Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.
Human molecular genetics 1997;6(11):1943-9.
1997: Bernd Wollnik; Christian Kubisch; Klaus Steinmeyer; Michael Pusch
Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.
Human molecular genetics 1997;6(5):805-11.
1995: A Maass; Christian Grohé; Christian Kubisch; Bernd Wollnik; Hans Vetter; Ludwig Neyses
Hormonal induction of an immediate-early gene response in myogenic cell lines--a paradigm for heart growth.
European heart journal 1995;16 Suppl C():12-4.
1993: Christian Kubisch; Bernd Wollnik; A Maass; Rainer Meyer; Hans Vetter; Ludwig Neyses
Immediate-early gene induction by repetitive mechanical but not electrical activity in adult rat cardiomyocytes.
FEBS letters 1993;335(1):37-40.
1993: Bernd Wollnik; Christian Kubisch; A Maass; Hans Vetter; Ludwig Neyses
Hyperosmotic stress induces immediate-early gene expression in ventricular adult cardiomyocytes.
Biochemical and biophysical research communications 1993;194(2):642-6.