Topak A - Search Results

1

A case with isochromosome 18p and 2q13 deletion including the BUB1 gene.

Ayaz A, Topak A, Yalcintepe S, Celik T, Yararbas K, Eser M, Yuregir OO. Ayaz A, et al. Among authors: topak a. Clin Dysmorphol. 2018 Jul;27(3):101-104. doi: 10.1097/MCD.0000000000000223. Clin Dysmorphol. 2018. PMID: 29738339 No abstract available.

2

Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.

Duz MB, Topak A. Duz MB, et al. Among authors: topak a. Clin Dysmorphol. 2020 Oct;29(4):167-172. doi: 10.1097/MCD.0000000000000329. Clin Dysmorphol. 2020. PMID: 32639237 Review.

3

Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.

Kılıç M, Dorum S, Topak A, Yazıcı MU, Ezgu FS, Coskun T. Kılıç M, et al. Among authors: topak a. Am J Med Genet A. 2020 Jul;182(7):1608-1614. doi: 10.1002/ajmg.a.61590. Epub 2020 Apr 7. Am J Med Genet A. 2020. PMID: 32259399 Review.

4

Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations.

Havali C, Ekici A, Dorum S, Görükmez Ö, Topak A. Havali C, et al. Among authors: topak a. Neurol Res. 2021 Sep;43(9):744-750. doi: 10.1080/01616412.2021.1932173. Epub 2021 May 25. Neurol Res. 2021. PMID: 34034642

5

Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants.

Dorum S, Erdoğan H, Köksoy AY, Topak A, Görükmez Ö. Dorum S, et al. Among authors: topak a. Pediatr Int. 2022 Jan;64(1):e14948. doi: 10.1111/ped.14948. Pediatr Int. 2022. PMID: 34380181

6

Associations analysis of GSTM1, T1 and P1 Ile105Val polymorphisms with carpal tunnel syndrome.

Eroğlu P, Erkol İnal E, Sağ ŞÖ, Görükmez Ö, Topak A, Yakut T. Eroğlu P, et al. Among authors: topak a. Clin Rheumatol. 2016 May;35(5):1245-51. doi: 10.1007/s10067-014-2855-0. Epub 2015 Jan 9. Clin Rheumatol. 2016. PMID: 25566970

7

Glutathione S-transferase T1, M1 and P1 Genetic Polymorphisms and Susceptibility to Colorectal Cancer in Turkey.

Gorukmez O, Yakut T, Gorukmez O, Sag SO, Topak A, Sahinturk S, Kanat O. Gorukmez O, et al. Among authors: topak a. Asian Pac J Cancer Prev. 2016;17(8):3855-9. Asian Pac J Cancer Prev. 2016. PMID: 27644629 Free article.

8

MMP2 gene-735 C/T and MMP9 gene -1562 C/T polymorphisms in JAK2V617F positive myeloproliferative disorders.

Sag SO, Gorukmez O, Ture M, Gorukmez O, Topak A, Sahinturk S, Ocakoglu G, Gulten T, Ali R, Yakut T. Sag SO, et al. Among authors: topak a. Asian Pac J Cancer Prev. 2015;16(2):443-9. doi: 10.7314/apjcp.2015.16.2.443. Asian Pac J Cancer Prev. 2015. PMID: 25684469 Free article.

9

Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.

Topak A. Topak A. Lab Med. 2024 Jan 6;55(1):13-19. doi: 10.1093/labmed/lmad027. Lab Med. 2024. PMID: 37078890

10

Spectrum of EGFR gene mutations and ALK rearrangements in lung cancer patients in Turkey.

Sag SO, Gorukmez O, Ture M, Gorukmez O, Deligonul A, Sahinturk S, Topak A, Gulten T, Kurt E, Yakut T. Sag SO, et al. Among authors: topak a. Springerplus. 2016 Apr 19;5:482. doi: 10.1186/s40064-016-2150-4. eCollection 2016. Springerplus. 2016. PMID: 27217997 Free PMC article.

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