Mutations in different components of FGF signaling in LADD syndrome
Wollnik, Bernd, Rohmann, Edyta, Brunner, Han G, Kayserili, Hülya, Uyguner, Oya, Nürnberg, Gudrun, Lew, Erin D, Dobbie, Angus, Eswarakumar, Veraragavan P, Uzumcu, Abdullah, Ulubil-Emeroglu, Melike, Leroy, Jules G, Li, Yun, Becker, Christian, Lehnerdt, Kai, Cremers, Cor W R J, Yüksel-Apak, Memnune, Nürnberg, Peter, Kubisch, Christian, Schlessinger, Joseph, van Bokhoven, Hans
Published in Nature genetics (01.04.2006)
Published in Nature genetics (01.04.2006)
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Journal Article
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, Boi‐Dinh, Kayserili, Hülya, Ai, Minrong, Freudenberg, Jan, Üzümcü, Abdullah, Uyguner, Oya, Bartels, Cynthia F., Höning, Stefan, Ramirez, Alfredo, Hanisch, Franz‐Georg, Nürnberg, Gudrun, Nürnberg, Peter, Warman, Matthew L., Wollnik, Bernd, Kubisch, Christian, Netzer, Christian
Published in Human mutation (01.04.2009)
Published in Human mutation (01.04.2009)
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Journal Article
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
Kalay, Ersan, Uzumcu, Abdullah, Krieger, Elmar, Çaylan, Refik, Uyguner, Oya, Ulubil-Emiroglu, Melike, Erdol, Hidayet, Kayserili, Hülya, Hafiz, Gunter, Başerer, Nermin, Heister, Angelien J.G.M., Hennies, Hans C., Nürnberg, Peter, Başaran, Seher, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Wollnik, Bernd, Kremer, Hannie
Published in American journal of medical genetics. Part A (15.10.2007)
Published in American journal of medical genetics. Part A (15.10.2007)
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Journal Article
A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene
Büyüköztürk, Suna, MD, Eroğlu, Belgin Kesim, MD, Gelincik, Asl, MD, Üzümcü, Abdullah, PhD, Özşeker, Ferhan, MD, Çolakoğlu, Bahattin, MD, Dal, Murat, MD, Uyguner, Z. Oya, PhD
Published in Journal of allergy and clinical immunology (01.04.2009)
Published in Journal of allergy and clinical immunology (01.04.2009)
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Journal Article
Ataxia with vitamin E deficiency associated with deafness
Kara, Bülent, Uzümcü, Abdullah, Uyguner, Oya, Rosti, Rasim Ozgür, Koçbaş, Ayça, Ozmen, Meral, Kayserili, Hülya
Published in Turkish journal of pediatrics (01.09.2008)
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Published in Turkish journal of pediatrics (01.09.2008)
Journal Article
Letter to the editor: A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene
Buyukozturk, Suna, Eroglu, Belgin Kesim, Gelincik, Asli, Uzumcu, Abdullah, Ozseker, Ferhan, Colakoglu, Bahattin, Dal, Murat, Uyguner, Z Oya
Published in Journal of allergy and clinical immunology (01.04.2009)
Published in Journal of allergy and clinical immunology (01.04.2009)
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Journal Article
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
Kalay, Ersan, Li, Yun, Uzumcu, Abdullah, Uyguner, Oya, Collin, Rob W., Caylan, Refik, Ulubil-Emiroglu, Melike, Kersten, Ferry F.J., Hafiz, Gunter, van Wijk, Erwin, Kayserili, Hulya, Rohmann, Edyta, Wagenstaller, Janine, Hoefsloot, Lies H., Strom, Tim M., Nürnberg, Gudrun, Baserer, Nermin, den Hollander, Anneke I., Cremers, Frans P.M., Cremers, Cor W.R.J., Becker, Christian, Brunner, Han G., Nürnberg, Peter, Karaguzel, Ahmet, Basaran, Seher, Kubisch, Christian, Kremer, Hannie, Wollnik, Bernd
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
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Journal Article
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome
Uzumcu, Abdullah, Karaman, Birsen, Toksoy, Guven, Uyguner, Z. Oya, Candan, Sukru, Eris, Hacer, Tatli, Burak, Geckinli, Bilge, Yuksel, Adnan, Kayserili, Hulya, Basaran, Seher
Published in European journal of medical genetics (01.09.2009)
Published in European journal of medical genetics (01.09.2009)
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Journal Article
Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome
Uzumcu, Abdullah, Candan, Sukru, Toksoy, Guven, Uyguner, Z. Oya, Karaman, Birsen, Eris, Hacer, Tatli, Burak, Kayserili, Hulya, Yuksel, Adnan, Geckinli, Bilge, Yuksel-Apak, Memnune, Basaran, Seher
Published in Journal of genetics and genomics (01.04.2009)
Published in Journal of genetics and genomics (01.04.2009)
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Journal Article
Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome
Uzumcu, Abdullah, Candan, Sukru, Toksoy, Guven, Uyguner, Z Oya, Karaman, Birsen, Eris, Hacer, Tatli, Burak, Kayserili, Hulya, Yuksel, Adnan, Geckinli, Bilge, Yuksel-Apak, Memnune, Basaran, Seher
Published in Journal of genetics and genomics (01.04.2009)
Published in Journal of genetics and genomics (01.04.2009)
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Journal Article
Mutational screening of BASP1 and transcribed processed pseudogene TP[Psi]g-BASP1 in patients with Moebius syndrome
Uzumcu, Abdullah, Candan, Sukru, Toksoy, Guven, Uyguner, ZOya, Karaman, Birsen, Eris, Hacer, Tatli, Burak, Kayserili, Hulya, Yuksel, Adnan, Geckinli, Bilge, Yuksel-Apak, Memnune, Basaran, Seher
Published in Journal of genetics and genomics (01.04.2009)
Published in Journal of genetics and genomics (01.04.2009)
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Journal Article
Erratum: Mutations in different components of FGF signaling in LADD syndrome
Rohmann, Edyta, Brunner, Han G, Kayserili, Hülya, Uyguner, Oya, Nürnberg, Gudrun, Lew, Erin D, Dobbie, Angus, Eswarakumar, Veraragavan P, Uzumcu, Abdullah, Ulubil-Emeroglu, Melike, Leroy, Jules G, Li, Yun, Becker, Christian, Lehnerdt, Kai, Cremers, Cor W R J, Yüksel-Apak, Memnune, Nürnberg, Peter, Kubisch, Christian, Schlessinger, Joseph, van Bokhoven, Hans, Wollnik, Bernd
Published in Nature genetics (01.04.2006)
Published in Nature genetics (01.04.2006)
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Journal Article
Mutational screening of BASP1 and transcribed processed pseudogene TPψg-BASP1 in patients with Moebius syndrome
Abdullah Uzumcu Sukru Candan Guven Toksoy Z. Oya Uyguner Birsen Karaman Hacer Eris Burak Tatli Hulya Kayserili Adnan Yuksel Bilge Geckinli Memnune Yuksel-Apak Seher Basaran
Published in Journal of genetics and genomics (2009)
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Published in Journal of genetics and genomics (2009)
Journal Article
A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene
Büyüköztürk, Suna, Eroğlu, Belgin Kesim, Gelincik, Asli, Uzümcü, Abdullah, Ozşeker, Ferhan, Colakoğlu, Bahattin, Dal, Murat, Uyguner, Z Oya
Published in The Journal of allergy and clinical immunology (01.04.2009)
Published in The Journal of allergy and clinical immunology (01.04.2009)
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