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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Dundar M, Fahrioglu U, Yildiz SH, Bakir-Gungor B, Temel SG, Akin H, Artan S, Cora T, Sahin FI, Dursun A, Sezer O, Gurkan H, Erdogan M, Gunduz CNS, Bisgin A, Ozdemir O, Ulgenalp A, Percin EF, Yildirim ME, Tekes S, Bagis H, Yuce H, Duman N, Bozkurt G, Yararbas K, Yildirim MS, Arman A, Mihci E, Eraslan S, Altintas ZM, Aymelek HS, Ruhi HI, Tatar A, Ergoren MC, Cetin GO, Altunoglu U, Caglayan AO, Yuksel B, Ozkul Y, Saatci C, Kenanoglu S, Karasu N, Dundar B, Ozcelik F, Demir M, Siniksaran BS, Kulak H, Kiranatlioglu K, Baysal K, Kazimli U, Akalin H, Dundar A, Boz M, Bayram A, Subasioglu A, Colak FK, Karaduman N, Gunes MC, Kandemir N, Aynekin B, Emekli R, Sahin IO, Ozdemir SY, Onal MG, Senel AS, Poyrazoglu MH, Kisaarslan ANP, Gursoy S, Baskol M, Calis M, Demir H, Zararsiz GE, Erdogan MO, Elmas M, Solak M, Ulu MS, Thahir A, Aydin Z, Atasever U, Sag SO, Aliyeva L, Alemdar A, Dogan B, Erguzeloglu CO, Kaya N, Ozkinay F, Cogulu O, Durmaz A, Onay H, Karaca E, Durmaz B, Aykut A, Cilingir O, Aras BD, Gokalp EE, Arslan S, Temena A, Haziyeva K, Kocagil S, Bas H, Susam E, Keklikci AR, Sarac E, Kocak N, Nergiz S, Terzi YK, Dincer SA, Baskin ES, Genc GC, Bahadir O, Sanri A, Yigit S, Tozkir H, Yalcinte… See abstract for full author list ➔ Dundar M, et al. Among authors: uyguner zo. Funct Integr Genomics. 2022 Jun;22(3):291-315. doi: 10.1007/s10142-021-00819-3. Epub 2022 Jan 31. Funct Integr Genomics. 2022. PMID: 35098403
Mild nasal clefting may be predictive for ALX4 heterozygotes.
Altunoglu U, Satkın B, Uyguner ZO, Kayserili H. Altunoglu U, et al. Among authors: uyguner zo. Am J Med Genet A. 2014 Aug;164A(8):2054-8. doi: 10.1002/ajmg.a.36578. Epub 2014 Apr 24. Am J Med Genet A. 2014. PMID: 24764194
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: uyguner zo. 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
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Berkay EG, Elkanova L, Kalaycı T, Uludağ Alkaya D, Altunoğlu U, Cefle K, Mıhçı E, Nur B, Taşdelen E, Bayramoğlu Z, Karaman V, Toksoy G, Güneş N, Öztürk Ş, Palandüz Ş, Kayserili H, Tüysüz B, Uyguner ZO. Berkay EG, et al. Among authors: uyguner zo. Am J Med Genet A. 2021 Aug;185(8):2488-2495. doi: 10.1002/ajmg.a.62261. Epub 2021 May 13. Am J Med Genet A. 2021. PMID: 33987976
71 results