Bazı Yayınları

1: Kılıç M, Özgül RK, Dursun A, Tokatlı A, Kalkanoğlu-Sivri HS, Anlar B, Fowler B, Coşkun T. Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation. Turk J Pediatr. 2013 Nov-Dec;55(6):633-6. PubMed PMID: 24577983.

2: Ozgül RK, Yücel-Yilmaz D, Dursun A. Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. J Clin Immunol. 2014 Apr;34(3):265-6. doi: 10.1007/s10875-014-9999-1. Epub 2014 Feb 19. PubMed PMID: 24549407.

3: Unal O, Coşkun T, Orhan D, Tokatl A, Dursun A, Hişmi B, Ozyüncü O, Sivri SH. Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intolerance. JIMD Rep. 2014;13:33-6. doi: 10.1007/8904_2013_259. Epub 2013 Oct 20. PubMed PMID: 24142278; PubMed Central PMCID: PMC4110330.

4: Özgül RK, Güzel-Ozantürk A, Dündar H, Yücel-Yılmaz D, Coşkun T, Sivri S, Aydoǧdu S, Tokatlı A, Dursun A. Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations. J Hum Genet. 2013 Oct;58(10):675-8. doi: 10.1038/jhg.2013.76. Epub 2013 Aug 8. PubMed PMID: 23924834. 5: Unal O, Oztürk-Hişmi B, Coşkun T, Tokatlı A, Dursun A, Sivri HS. Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs. Turk J Pediatr. 2012 Jul-Aug;54(4):409-12. PubMed PMID: 23692723. 6: Güzel-Ozantürk A, Ozgül RK, Unal O, Hişmi B, Aydın Hİ, Sivri S, Tokatlı A, Coşkun T, Aksöz E, Dursun A. Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance. Gene. 2013 Jun 1;521(2):293-5. doi: 10.1016/j.gene.2013.03.033. Epub 2013 Mar 28. PubMed PMID: 23542076. 7: Kilic M, Ozgül RK, Coşkun T, Yücel D, Karaca M, Sivri HS, Tokatli A, Sahin M, Karagöz T, Dursun A. Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency. JIMD Rep. 2012;3:17-23. doi: 10.1007/8904_2011_36. Epub 2011 Sep 22. PubMed PMID: 23430869; PubMed Central PMCID: PMC3509853. 8: Kilic M, Taskesen M, Coskun T, Gürakan F, Tokatli A, Sivri HS, Dursun A, Schmitt S, Küry S. A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene. JIMD Rep. 2012;2:25-8. doi: 10.1007/8904_2011_38. Epub 2011 Sep 6. PubMed PMID: 23430849; PubMed CentralPMCID: PMC3509835. 9: Ostergaard E, Duno M, Møller LB, Kalkanoglu-Sivri HS, Dursun A, Aliefendioglu D, Leth H, Dahl M, Christensen E, Wibrand F. Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency. JIMD Rep. 2013;9:1-5. doi: 10.1007/8904_2012_173. Epub 2012 Aug 31. PubMed PMID: 23430542; PubMed Central PMCID: PMC3565670. 10: Unal O, Orhan D, Ostergaard E, Tokatli A, Dursun A, Ozturk-Hismi B, Coskun T, Wibrand F, Kalkanoglu-Sivri HS. A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy. J Child Neurol. 2013 Nov;28(11):1505-1508. Epub 2012 Sep 10. PubMed PMID: 22965558. 11: Dündar H, Özgül RK, Güzel-Ozantürk A, Dursun A, Sivri S, Aliefendioğlu D, Coşkun T, Tokatli A. Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. Mol Genet Metab. 2012 Aug;106(4):419-23. doi: 10.1016/j.ymgme.2012.05.014. Epub 2012 Jun 1. PubMed PMID: 22727635. 12: Dündar H, Ozgül RK, Yalnızoğlu D, Erdem S, Oğuz KK, Tuncel D, Temuçin CM, Dursun A. Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. Pediatr Neurol. 2012 Mar;46(3):172-7. doi: 10.1016/j.pediatrneurol.2011.12.006. PubMed PMID: 22353293. 13: Guven A, Cebeci N, Dursun A, Aktekin E, Baumgartner M, Fowler B. Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. Pediatr Diabetes. 2012 Sep;13(6):e22-5. doi: 10.1111/j.1399-5448.2011.00784.x. Epub 2011 May 5. PubMed PMID: 21545677. 14: Kiliç M, Sivri HS, Dursun A, Tokatli A, De Meirleir L, Seneca S, Akçören Z, Yiğit S, Topaloğlu H, Coşkun T. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome. Turk J Pediatr. 2011 Jan-Feb;53(1):79-82. PubMed PMID: 21534344. 15: Dursun A, Ozgül RK, Sivri S, Tokatlı A, Güzel A, Mesci L, Kılıç M, Aliefendioglu D, Ozçay F, Gündüz M, Coşkun T. Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. JIMD Rep. 2011;1:17-21. doi: 10.1007/8904_2011_10. Epub 2011 Jun 22. PubMed PMID: 23430822; PubMed Central PMCID: PMC3509809. 16: Banka S, Newman WG, Ozgül RK, Dursun A. Mutations in the G6PC3 gene cause Dursun syndrome. Am J Med Genet A. 2010 Oct;152A(10):2609-11. doi: 10.1002/ajmg.a.33615. PubMed PMID: 20799326. 17: Coşkun T, Aydin HI, Kiliç M, Dursun A, Haliloğlu G, Topaloğlu H, Karli-Oğuz K, de Koning TJ. 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. Turk J Pediatr. 2009 Nov-Dec;51(6):587-92. PubMed PMID: 20196394. 18: Dursun A, Gucer S, Ebberink MS, Yigit S, Wanders RJ, Waterham HR. Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S345-8. doi: 10.1007/s10545-009-9010-0. Epub 2009 Dec 23. Review. PubMed PMID: 20033294. 19: Uz E, Mustafa C, Topaloglu R, Bilginer Y, Dursun A, Kasapcopur O, Ozen S, Bakkaloglu A, Ozcelik T. Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis. Arthritis Rheum. 2009 Nov;60(11):3410-2. doi: 10.1002/art.24956. PubMed PMID: 19877028. 20: Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. PubMed PMID: 19800826.

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