Özgül RK - Search Results

1

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

Gürbüz BB, Gülbakan B, Özgül RK, Yalnızoğlu D, Yılmaz DY, Göçmen R, Koşukcu C, Kandemir N, Acar NV, Salih B, Dursun A. Gürbüz BB, et al. Among authors: ozgul rk. Am J Med Genet A. 2024 Sep;194(9):e63645. doi: 10.1002/ajmg.a.63645. Epub 2024 May 6. Am J Med Genet A. 2024. PMID: 38709052

2

Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect.

Dursun A, Yalnızoğlu D, Özgül RK, Karlı Oğuz K, Yücel-Yılmaz D. Dursun A, et al. Among authors: ozgul rk. Am J Med Genet B Neuropsychiatr Genet. 2020 Jan;183(1):3-4. doi: 10.1002/ajmg.b.32762. Epub 2019 Sep 11. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 31512396 No abstract available.

3

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.

Gürbüz BB, Yılmaz DY, Özgül RK, Koşukcu C, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Gürbüz BB, et al. Among authors: ozgul rk. Turk J Pediatr. 2021;63(4):691-696. doi: 10.24953/turkjped.2021.04.017. Turk J Pediatr. 2021. PMID: 34449152 Free article.

4

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.

Dursun A, Yalnizoglu D, Yilmaz DY, Oguz KK, Gülbakan B, Koşukcu C, Akar HT, Kahraman AB, Acar NV, Günbey C, Yildiz Y, Ozgul RK. Dursun A, et al. Among authors: ozgul rk. Eur J Med Genet. 2021 Nov;64(11):104340. doi: 10.1016/j.ejmg.2021.104340. Epub 2021 Sep 9. Eur J Med Genet. 2021. PMID: 34509675

5

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.

Kandemir N, Yilmaz DY, Gonc EN, Ozon A, Alikasifoglu A, Dursun A, Ozgul RK. Kandemir N, et al. Among authors: ozgul rk. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):57-63. doi: 10.1016/j.jsbmb.2016.03.006. Epub 2016 Mar 5. J Steroid Biochem Mol Biol. 2017. PMID: 26956189

6

Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.

Yalnızoǧlu D, Özgül RK, Oǧuz KK, Özer B, Yücel-Yılmaz D, Gürbüz B, Serdaroǧlu E, Erol İ, Topçu M, Dursun A. Yalnızoǧlu D, et al. Among authors: ozgul rk. J Inherit Metab Dis. 2019 Mar;42(2):381-388. doi: 10.1002/jimd.12016. Epub 2019 Jan 30. J Inherit Metab Dis. 2019. PMID: 30701556

7

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.

Yıldız Y, Koşukcu C, Aygün D, Akçaboy M, Öztek Çelebi FZ, Taşcı Yıldız Y, Şahin G, Aytekin C, Yüksel D, Lay İ, Özgül RK, Dursun A. Yıldız Y, et al. Among authors: ozgul rk. Clin Genet. 2021 Sep;100(3):308-317. doi: 10.1111/cge.14002. Epub 2021 Jun 4. Clin Genet. 2021. PMID: 34013567

8

An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy.

Vardar Acar N, Dursun A, Aygün D, Gürses Cila HE, Lay İ, Gülbakan B, Özgül RK. Vardar Acar N, et al. Among authors: ozgul rk. Free Radic Biol Med. 2022 Feb 1;179:190-199. doi: 10.1016/j.freeradbiomed.2021.12.312. Epub 2021 Dec 31. Free Radic Biol Med. 2022. PMID: 34974126

9

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

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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