Dursun A - Search Results

1

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM. O'Byrne JJ, et al. Among authors: dursun a. Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15. Mol Genet Metab. 2018. PMID: 29331171 Free PMC article.

2

Mutations in the G6PC3 gene cause Dursun syndrome.

Banka S, Newman WG, Ozgül RK, Dursun A. Banka S, et al. Among authors: dursun a. Am J Med Genet A. 2010 Oct;152A(10):2609-11. doi: 10.1002/ajmg.a.33615. Am J Med Genet A. 2010. PMID: 20799326

Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. ...We propose that Dursun syndrome should now be considered as a subset of severe congenital neutropenia type 4 with pulmonary hypertension as …

Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. ...We propose tha …

3

Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.

Dündar H, Ozgül RK, Yalnızoğlu D, Erdem S, Oğuz KK, Tuncel D, Temuçin CM, Dursun A. Dündar H, et al. Among authors: dursun a. Pediatr Neurol. 2012 Mar;46(3):172-7. doi: 10.1016/j.pediatrneurol.2011.12.006. Pediatr Neurol. 2012. PMID: 22353293

4

Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.

Dündar H, Özgül RK, Güzel-Ozantürk A, Dursun A, Sivri S, Aliefendioğlu D, Coşkun T, Tokatli A. Dündar H, et al. Among authors: dursun a. Mol Genet Metab. 2012 Aug;106(4):419-23. doi: 10.1016/j.ymgme.2012.05.014. Epub 2012 Jun 1. Mol Genet Metab. 2012. PMID: 22727635

5

Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

Dursun A, Ozgül RK, Sivri S, Tokatlı A, Güzel A, Mesci L, Kılıç M, Aliefendioglu D, Ozçay F, Gündüz M, Coşkun T. Dursun A, et al. JIMD Rep. 2011;1:17-21. doi: 10.1007/8904_2011_10. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430822 Free PMC article.

6

Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.

Kilic M, Ozgül RK, Coşkun T, Yücel D, Karaca M, Sivri HS, Tokatli A, Sahin M, Karagöz T, Dursun A. Kilic M, et al. Among authors: dursun a. JIMD Rep. 2012;3:17-23. doi: 10.1007/8904_2011_36. Epub 2011 Sep 22. JIMD Rep. 2012. PMID: 23430869 Free PMC article.

7

Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.

Güzel-Ozantürk A, Ozgül RK, Unal O, Hişmi B, Aydın Hİ, Sivri S, Tokatlı A, Coşkun T, Aksöz E, Dursun A. Güzel-Ozantürk A, et al. Among authors: dursun a. Gene. 2013 Jun 1;521(2):293-5. doi: 10.1016/j.gene.2013.03.033. Epub 2013 Mar 28. Gene. 2013. PMID: 23542076

8

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

Özgül RK, Güzel-Ozantürk A, Dündar H, Yücel-Yılmaz D, Coşkun T, Sivri S, Aydoǧdu S, Tokatlı A, Dursun A. Özgül RK, et al. Among authors: dursun a. J Hum Genet. 2013 Oct;58(10):675-8. doi: 10.1038/jhg.2013.76. Epub 2013 Aug 8. J Hum Genet. 2013. PMID: 23924834

9

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

Karaca M, Hismi B, Ozgul RK, Karaca S, Yilmaz DY, Coskun T, Sivri HS, Tokatli A, Dursun A. Karaca M, et al. Among authors: dursun a. Gene. 2014 Jan 25;534(2):197-203. doi: 10.1016/j.gene.2013.10.060. Epub 2013 Nov 6. Gene. 2014. PMID: 24211323

10

Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines.

Ozgül RK, Yücel-Yilmaz D, Dursun A. Ozgül RK, et al. Among authors: dursun a. J Clin Immunol. 2014 Apr;34(3):265-6. doi: 10.1007/s10875-014-9999-1. Epub 2014 Feb 19. J Clin Immunol. 2014. PMID: 24549407 No abstract available.

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