Yucel-Yilmaz D - Search Results

1

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.

Dursun A, Yalnizoglu D, Gerdan OF, Yucel-Yilmaz D, Sagiroglu MS, Yuksel B, Gucer S, Sivri S, Ozgul RK. Dursun A, et al. Among authors: yucel yilmaz d. Clin Dysmorphol. 2017 Jan;26(1):1-12. doi: 10.1097/MCD.0000000000000149. Clin Dysmorphol. 2017. PMID: 27547915

2

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.

3

A patient with mitochondrial disorder due to a novel mutation in MRPS22.

Kılıç M, Oğuz KK, Kılıç E, Yüksel D, Demirci H, Sağıroğlu MŞ, Yücel-Yılmaz D, Özgül RK. Kılıç M, et al. Among authors: yucel yilmaz d. Metab Brain Dis. 2017 Oct;32(5):1389-1393. doi: 10.1007/s11011-017-0074-5. Epub 2017 Jul 27. Metab Brain Dis. 2017. PMID: 28752220

4

Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.

Yücel-Yılmaz D, Yücesan E, Yalnızoğlu D, Oğuz KK, Sağıroğlu MŞ, Özbek U, Serdaroğlu E, Bilgiç B, Erdem S, İşeri SAU, Hanağası H, Gürvit H, Özgül RK, Dursun A. Yücel-Yılmaz D, et al. Brain Dev. 2018 Jun;40(6):458-464. doi: 10.1016/j.braindev.2018.02.013. Epub 2018 Mar 12. Brain Dev. 2018. PMID: 29544888

5

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: yucel yilmaz d. 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

6

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: yucel yilmaz d. 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.

7

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

8

Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.

Yücel-Yılmaz D, Tarlan B, Kıratlı H, Ozgül RK. Yücel-Yılmaz D, et al. DNA Cell Biol. 2014 Dec;33(12):876-83. doi: 10.1089/dna.2014.2554. DNA Cell Biol. 2014. PMID: 25148430

9

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.

Atçeken N, Özgül RK, Yücel Yilmaz D, Tokatli A, Coşkun T, Sivri HS, Dursun A, Karaca M. Atçeken N, et al. Turk J Med Sci. 2016 Feb 17;46(2):404-8. doi: 10.3906/sag-1411-160. Turk J Med Sci. 2016. PMID: 27511503 Free article.

10

Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.

Kılıç M, Dursun A, Coşkun T, Tokatlı A, Özgül RK, Yücel-Yılmaz D, Karaca M, Doğru D, Alehan D, Kadayıfçılar S, Genç A, Turan-Dizdar H, Gönüldaş B, Savcı S, Sağlam M, Aksoy C, Arslan U, Sivri HS. Kılıç M, et al. Among authors: yucel yilmaz d. Am J Med Genet A. 2017 Nov;173(11):2954-2967. doi: 10.1002/ajmg.a.38459. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884960

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