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Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.
Toksoy G, Durmus H, Aghayev A, Bagirova G, Sevinc Rustemoglu B, Basaran S, Avci S, Karaman B, Parman Y, Altunoglu U, Yapici Z, Tekturk P, Deymeer F, Topaloglu H, Kayserili H, Oflazer-Serdaroglu P, Uyguner ZO. Toksoy G, et al. Neuromuscul Disord. 2019 Aug;29(8):601-613. doi: 10.1016/j.nmd.2019.03.012. Epub 2019 Mar 28. Neuromuscul Disord. 2019. PMID: 31443951
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 A, Karaman B, Toksoy G, Uyguner ZO, Candan S, Eris H, Tatli B, Geckinli B, Yuksel A, Kayserili H, Basaran S. Uzumcu A, et al. Among authors: toksoy g. Eur J Med Genet. 2009 Sep-Oct;52(5):315-20. doi: 10.1016/j.ejmg.2009.05.003. Epub 2009 May 19. Eur J Med Genet. 2009. PMID: 19460469
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
Baş F, Uyguner ZO, Darendeliler F, Aycan Z, Çetinkaya E, Berberoğlu M, Şiklar Z, Öcal G, Darcan Ş, Gökşen D, Topaloğlu AK, Yüksel B, Özbek MN, Ercan O, Evliyaoğlu O, Çetinkaya S, Şen Y, Atabek E, Toksoy G, Aydin BK, Bundak R. Baş F, et al. Among authors: toksoy g. Endocrine. 2015 Jun;49(2):479-91. doi: 10.1007/s12020-014-0498-1. Epub 2014 Dec 11. Endocrine. 2015. PMID: 25500790
Idiopathic angioedema with F12 mutation: is it a new entity?
Gelincik A, Demir S, Olgaç M, Karaman V, Toksoy G, Çolakoğlu B, Büyüköztürk S, Uyguner ZO. Gelincik A, et al. Among authors: toksoy g. Ann Allergy Asthma Immunol. 2015 Feb;114(2):154-6. doi: 10.1016/j.anai.2014.11.018. Epub 2014 Dec 15. Ann Allergy Asthma Immunol. 2015. PMID: 25524745 No abstract available.
52 results