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Berk Ozyilmaz

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Articles 34
Citations 86
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Recent Articles
1.
Guzin Y, Dagdas S, Sarikaya Uzan G, Baykan M, Gencpinar P, Baydan F, et al.
Neuropediatrics . 2025 Jan; PMID: 39809437
Purpose:  Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever and serositis, caused by mutations in the gene. Inflammatory pathways associated with FMF are...
2.
Koseoglu F, Keklik Karadag F, Bulbul H, Alici E, Ozyilmaz B, Ozdemir T
Medicine (Baltimore) . 2024 Apr; 103(14):e37751. PMID: 38579024
The demand for Janus Kinase-2 (JAK2) testing has been disproportionate to the low yield of positive results, which highlights the need for more discerning test strategies. The aim of this...
3.
Golbasi H, Bayraktar B, Golbasi C, Omeroglu I, Adiyaman D, Alkan K, et al.
Arch Gynecol Obstet . 2024 Mar; 310(2):1037-1048. PMID: 38441603
Purpose: To determine the association between fetal fraction (FF) levels in cell-free fetal DNA (cffDNA) testing and adverse pregnancy outcomes. Methods: This retrospective cohort study, conducted at a single center,...
4.
Gulec R, Arslan F, Ozyilmaz B, Yilmaz N, Yilmaz Hanci S, Kose S
J Immunol Methods . 2023 Oct; 523:113577. PMID: 37865308
Objective: We aimed to show the cross-reactivity that may occur between immunoglobulin (Ig) M antibodies that form against Cytomegalovirus (CMV) and/or Epstein-Barr virus (EBV) and human leukocyte antigens (HLA). Methods:...
5.
Gunes S, Wu J, Ozyilmaz B, Sevim R, Unuvar T, Anik A
Pharmaceuticals (Basel) . 2022 Dec; 15(12). PMID: 36558986
Craniofrontonasal syndrome (CFNS), also known as craniofrontonasal dysplasia, is an X-linked inherited developmental malformation caused by mutations in the ephrin B1 () gene. The main phenotypic features of the syndrome...
6.
Catli G, Gao W, Foley C, Ozyilmaz B, Edeer N, Diniz G, et al.
Mol Cell Endocrinol . 2022 Oct; 559:111799. PMID: 36265659
STAT5B deficiency, a rare autosomal recessive disorder characterized by severe growth hormone insensitivity (GHI) and immunodeficiency, can manifest as fatal pulmonary complications. We describe atypical STAT5B deficiency associated with a...
7.
Cagan Appak Y, Aksoy B, Ozyilmaz B, Ozdemir T, Baran M
Turk Arch Pediatr . 2022 Jul; 57(3):295-299. PMID: 35781232
Objective: Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in...
8.
Diniz G, Komurcuoglu B, Ozyilmaz B, Ozguzer A, Yucel N, Kirbiyik O
Indian J Pathol Microbiol . 2022 Apr; 65(2):305-310. PMID: 35435363
Background/aims: As targeted therapies are promising in the treatment of lung cancer (LC), it is important to identify the genetic variations in tumors. The present research aimed to determine the...
9.
Ozyilmaz B, Kirbiyik O, Ozdemir T, Ozer O, Kutbay Y, Erdogan K, et al.
Neurogenetics . 2022 Feb; 23(2):103-114. PMID: 35157181
Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is LGMDR1 or calpainopathy, which had previously been defined...
10.
Tekin H, Edem P, Ozyilmaz B
Brain Dev . 2022 Jan; 44(4):294-298. PMID: 34974950
Background: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predominant lower extremity involvement (SMA-LED), Charcot-Marie-Tooth 2O (CMT2O) disease, cortical migration...