Ozgül RK - Search Results

1

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: ozgul rk. Pediatr Neurol. 2012 Mar;46(3):172-7. doi: 10.1016/j.pediatrneurol.2011.12.006. Pediatr Neurol. 2012. PMID: 22353293

2

Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement.

Dursun A, Ozgul RK, Soydas A, Tugrul T, Gurgey A, Celiker A, Barst RJ, Knowles JA, Mahesh M, Morse JH. Dursun A, et al. Among authors: ozgul rk. Clin Dysmorphol. 2009 Jan;18(1):19-23. doi: 10.1097/MCD.0b013e32831841f7. Clin Dysmorphol. 2009. PMID: 19011569

3

Mutations in the G6PC3 gene cause Dursun syndrome.

Banka S, Newman WG, Ozgül RK, Dursun A. Banka S, et al. Among authors: ozgul rk. 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

4

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium; Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Ozgül RK, et al. Am J Hum Genet. 2011 Aug 12;89(2):253-64. doi: 10.1016/j.ajhg.2011.07.005. Am J Hum Genet. 2011. PMID: 21835304 Free PMC article.

5

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: ozgul rk. 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

6

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. Among authors: ozgul rk. JIMD Rep. 2011;1:17-21. doi: 10.1007/8904_2011_10. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430822 Free PMC article.

7

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: ozgul rk. JIMD Rep. 2012;3:17-23. doi: 10.1007/8904_2011_36. Epub 2011 Sep 22. JIMD Rep. 2012. PMID: 23430869 Free PMC article.

8

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: ozgul rk. Gene. 2013 Jun 1;521(2):293-5. doi: 10.1016/j.gene.2013.03.033. Epub 2013 Mar 28. Gene. 2013. PMID: 23542076

9

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. 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

10

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: ozgul rk. Gene. 2014 Jan 25;534(2):197-203. doi: 10.1016/j.gene.2013.10.060. Epub 2013 Nov 6. Gene. 2014. PMID: 24211323

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