Özgul RK - Search Results

1

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.

Masuho I, Fang M, Geng C, Zhang J, Jiang H, Özgul RK, Yılmaz DY, Yalnızoğlu D, Yüksel D, Yarrow A, Myers A, Burn SC, Crotwell PL, Padilla-Lopez S, Dursun A, Martemyanov KA, Kruer MC. Masuho I, et al. Among authors: ozgul rk. Neurol Genet. 2016 May 12;2(3):e78. doi: 10.1212/NXG.0000000000000078. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27222887 Free PMC article. No abstract available.

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

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

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: 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

5

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

6

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

7

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

8

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. 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.

9

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.

Kılıç M, Özgül RK, Dursun A, Tokatlı A, Kalkanoğlu-Sivri HS, Anlar B, Fowler B, Coşkun T. Kılıç M, et al. Among authors: ozgul rk. Turk J Pediatr. 2013 Nov-Dec;55(6):633-6. Turk J Pediatr. 2013. PMID: 24577983

10

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.

Ozgul RK, Karaca M, Kilic M, Kucuk O, Yucel-Yilmaz D, Unal O, Hismi B, Aliefendioglu D, Sivri S, Tokatli A, Coskun T, Dursun A. Ozgul RK, et al. Eur J Med Genet. 2014 Oct;57(10):596-601. doi: 10.1016/j.ejmg.2014.08.006. Epub 2014 Sep 8. Eur J Med Genet. 2014. PMID: 25220015

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