Dursun A - Search Results

1

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: dursun a. Clin Genet. 2021 Sep;100(3):308-317. doi: 10.1111/cge.14002. Epub 2021 Jun 4. Clin Genet. 2021. PMID: 34013567

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. 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: dursun a. 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

Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. ...We propose that Dursun syndrome should now be considered as a subset of severe congenital neutropenia type 4 with pulmonary hypertension as …

Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. ...We propose tha …

4

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

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: dursun a. 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. 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: dursun a. 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: dursun a. 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. Among authors: dursun a. 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: dursun a. 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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