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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: sagiroglu ms. BMC Genet. 2013 Sep 28;14:95. doi: 10.1186/1471-2156-14-95. BMC Genet. 2013. PMID: 24073994 Free PMC article.
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: sagiroglu ms. 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.
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: sagiroglu ms. 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.
Performance comparison of Next Generation sequencing platforms.
Erguner B, Ustek D, Sagiroglu MS. Erguner B, et al. Among authors: sagiroglu ms. Annu Int Conf IEEE Eng Med Biol Soc. 2015;2015:6453-6. doi: 10.1109/EMBC.2015.7319870. Annu Int Conf IEEE Eng Med Biol Soc. 2015. PMID: 26737770
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: sagiroglu ms. 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.
A further family of Stromme syndrome carrying CENPF mutation.
Ozkinay F, Atik T, Isik E, Gormez Z, Sagiroglu M, Sahin OA, Corduk N, Onay H. Ozkinay F, et al. Am J Med Genet A. 2017 Jun;173(6):1668-1672. doi: 10.1002/ajmg.a.38173. Epub 2017 Apr 13. Am J Med Genet A. 2017. PMID: 28407396
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Among authors: sagiroglu ms. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
27 results