Ozgül RK - Search Results

1

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.

2

Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa.

Ozgül RK, Durukan H, Turan A, Oner C, Ogüs A, Farber DB. Ozgül RK, et al. Hum Mutat. 2004 May;23(5):523. doi: 10.1002/humu.9236. Hum Mutat. 2004. PMID: 15108289

3

Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.

Ozgül RK, Satman I, Collin GB, Hinman EG, Marshall JD, Kocaman O, Tütüncü Y, Yilmaz T, Naggert JK. Ozgül RK, et al. Clin Genet. 2007 Oct;72(4):351-6. doi: 10.1111/j.1399-0004.2007.00848.x. Clin Genet. 2007. PMID: 17850632

4

Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients.

Saglar E, Yucel D, Bozkurt B, Ozgul RK, Irkec M, Ogus A. Saglar E, et al. Among authors: ozgul rk. Mol Vis. 2009 Jun 30;15:1270-6. Mol Vis. 2009. PMID: 19578553 Free PMC article.

5

Novel Alu retrotransposon insertion leading to Alström syndrome.

Taşkesen M, Collin GB, Evsikov AV, Güzel A, Özgül RK, Marshall JD, Naggert JK. Taşkesen M, et al. Among authors: ozgul rk. Hum Genet. 2012 Mar;131(3):407-13. doi: 10.1007/s00439-011-1083-9. Epub 2011 Aug 30. Hum Genet. 2012. PMID: 21877133 Free PMC article.

6

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

7

Association of CFH Y402H polymorphism with both forms of advanced age-related macular degeneration in Turkish patients.

Yücel D, Yılmaz M, Durukan AH, Özgül RK. Yücel D, et al. Among authors: ozgul rk. Ophthalmic Genet. 2012 Sep;33(3):144-9. doi: 10.3109/13816810.2012.660225. Epub 2012 Apr 9. Ophthalmic Genet. 2012. PMID: 22486323

8

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

9

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.

10

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

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