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Page 1
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. Among authors: avci s. 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
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.
Kardelen AD, Toksoy G, Baş F, Yavaş Abalı Z, Gençay G, Poyrazoğlu Ş, Bundak R, Altunoğlu U, Avcı Ş, Najaflı A, Uyguner O, Karaman B, Başaran S, Darendeliler F. Kardelen AD, et al. Among authors: avci s. J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):206-215. doi: 10.4274/jcrpe.0032. Epub 2018 Mar 29. J Clin Res Pediatr Endocrinol. 2018. PMID: 29595516 Free PMC article.
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
Baş F, Toksoy G, Ergun-Longmire B, Uyguner ZO, Abalı ZY, Poyrazoğlu Ş, Karaman V, Avcı Ş, Altunoğlu U, Bundak R, Karaman B, Başaran S, Darendeliler F. Baş F, et al. Among authors: avci s. J Steroid Biochem Mol Biol. 2018 Jul;181:88-97. doi: 10.1016/j.jsbmb.2018.04.001. Epub 2018 Apr 4. J Steroid Biochem Mol Biol. 2018. PMID: 29626607
Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.
Türkyilmaz G, Avcı S, Sıvrıkoz T, Erturk E, Altunoglu U, Turkyilmazlmaz SE, Kalelioglu IH, Has R, Yuksel A. Türkyilmaz G, et al. Among authors: avci s. Fetal Pediatr Pathol. 2019 Apr;38(2):127-137. doi: 10.1080/15513815.2018.1556367. Epub 2019 Jan 2. Fetal Pediatr Pathol. 2019. PMID: 30600745
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.
Toksoy G, Uludağ Alkaya D, Bagirova G, Avcı Ş, Aghayev A, Günes N, Altunoğlu U, Alanay Y, Başaran S, Berkay EG, Karaman B, Celkan TT, Apak H, Kayserili H, Tüysüz B, Uyguner ZO. Toksoy G, et al. Among authors: avci s. Mol Syndromol. 2020 Nov;11(4):183-196. doi: 10.1159/000509838. Epub 2020 Sep 23. Mol Syndromol. 2020. PMID: 33224012 Free PMC article.
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Akcan N, Uyguner O, Baş F, Altunoğlu U, Toksoy G, Karaman B, Avcı Ş, Yavaş Abalı Z, Poyrazoğlu Ş, Aghayev A, Karaman V, Bundak R, Başaran S, Darendeliler F. Akcan N, et al. Among authors: avci s. J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):153-171. doi: 10.4274/jcrpe.galenos.2022.2021-9-19. Epub 2022 Feb 9. J Clin Res Pediatr Endocrinol. 2022. PMID: 35135181 Free PMC article.
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome.
Karakilic-Ozturan E, Altunoglu U, Ozturk AP, Kardelen Al AD, Yavas Abali Z, Avci S, Wollnik B, Poyrazoglu S, Bas F, Uyguner ZO, Kayserili H, Darendeliler F. Karakilic-Ozturan E, et al. Among authors: avci s. Am J Med Genet A. 2022 Jul;188(7):2061-2070. doi: 10.1002/ajmg.a.62742. Epub 2022 Apr 8. Am J Med Genet A. 2022. PMID: 35393770
172 results