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Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.
Bayrakli F, Poyrazoglu HG, Yuksel S, Yakicier C, Erguner B, Sagiroglu MS, Yuceturk B, Ozer B, Doganay S, Tanrikulu B, Seker A, Akbulut F, Ozen A, Per H, Kumandas S, Altuner Torun Y, Bayri Y, Sakar M, Dagcinar A, Ziyal I. Bayrakli F, et al. Among authors: erguner b. J Hum Genet. 2015 Dec;60(12):763-8. doi: 10.1038/jhg.2015.109. Epub 2015 Oct 1. J Hum Genet. 2015. PMID: 26423925 Clinical Trial.
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.
Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B, Sagiroglu MS, Yuksel S, Ozturk AR, Kazanci B, Ozum U, Kars HZ. Bayrakli F, et al. Among authors: erguner b. BMC Genet. 2013 Sep 28;14:95. doi: 10.1186/1471-2156-14-95. BMC Genet. 2013. PMID: 24073994 Free PMC article.
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Among authors: erguner b. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Inal-Gültekin G, Toptaş-Hekimoğlu B, Görmez Z, Gelişin Ö, Durmuş H, Ergüner B, Demirci H, Sağıroğlu MŞ, Parman Y, Deymeer F, Yılmaz-Aydoğan H, Pençe S, Bekircan-Kurt CE, Tan E, Erdem-Özdamar S, Üstek D, Giger U, Öztürk O, Serdaroğlu-Oflazer P. Inal-Gültekin G, et al. Among authors: erguner b. Neuromuscul Disord. 2017 Nov;27(11):997-1008. doi: 10.1016/j.nmd.2017.06.004. Epub 2017 Jun 16. Neuromuscul Disord. 2017. PMID: 28967462 Free PMC article.
20 results