Search results for: Hilal Akalin

Items from 1 to 11 out of 11 results

article

Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients

Hilal Akalin, Izem Olcay Sahin, Seyma Aktas Paskal, Busra Tan, more

Journal of Clinical Laboratory Analysis > 38 > 1-2 > n/a - n/a

Background and Aim Chromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal...

article

The molecular basis and genotype–phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population

Ayca Dundar, Ruslan Bayramov, Muge G. Onal, Mustafa Akkus, more

Molecular Biology Reports > 2019 > 46 > 4 > 3677-3690

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder due to presence of mutations in the genes involved in the metabolism of steroid hormones in adrenal gland. There are two main forms of CAH, classic form and non-classic form. While classic form stands for the severe form, the non-classic form stands for the moderate and more frequent form of CAH. The enzyme deficiencies...

article

The effect of CYP2C19*2 polymorphism on clopidogrel resistance in COPD patients

Zeliha Funda Kılık, Hilal Akalın, Ruslan Bayramov, Yakut Erdem, more

Journal of Biotechnology > 2017 > 256 > S > S80

article

Association of the thrombophilia factors with breast and/or ovarian cancer risk

Damla Badur Mermer, Nuriye Coskun, Hilal Akalin, Ruslan Bayramov, more

Journal of Biotechnology > 2017 > 256 > S > S80

article

Investigation of BAP1 and ANAPC7 genes expression in patients with acute myeloid leukemia

Yagut Erdem, Muharrem Eren Korkmazer, Hilal Akalin, Mehmet Akif Ozdemir, more

Journal of Biotechnology > 2015 > 208 > S > S96

article

Erythropoietin improves brain development in short-term hypoxia in rat embryo cultures

Yasemin Altuner Torun, Mehmet Akif Ozdemir, Harun Ulger, Mehtap Nisari, more

Brain and Development > 2014 > 36 > 10 > 864-869

Background: Hypoxic ischemic encephalopathy continues to be a significant cause of death and disability worldwide. Erythropoietin (EPO) has the potential to lessen neurologic sequelae due to hypoxia–ischemia. Methods: The in vitro effects of EPO on total embryonic development and brain VEGF receptor (VEGFR) expressions were investigated in 50 rat embryos at 9.5days of gestation that were cultured...

article

Mutations in IDH1, IDH2, PON1 genes in patients with diffuse large b-cell lymphoma

Hilal Akalin, Sule Ketenci Ertas, Yagut Akbarova, Yusuf Ozkul, more

Current Opinion in Biotechnology > 2013 > 24 > Supplement 1 > S98

article

Analysing the role of MDM2 SNP309 in patients with glioblastoma multiforme

Yagut Akbarova, Munis Dundar, Hilal Akalin, Dicle Aslan, more

Current Opinion in Biotechnology > 2013 > 24 > Supplement 1 > S98

article

Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome

Munis Dundar, Aslihan Kiraz, Sener Tasdemir, Hilal Akalin, more

American Journal of Medical Genetics Part C: Seminars in Medical Genetics > 152A > 11 > 2791 - 2795

This report describes a 25‐day‐old Turkish boy with unbalanced 3;22 translocation that includes the 22q11.2 deletion and 3p25 deletion syndrome. The karyotype was 45, XY,der(3)t(3;22)(p25;q11),‐22. Although no immunological dysfunction could be demonstrated, the boy presented some manifestations of DiGeorge anomaly (DGA), which has been associated with monosomy for the same region of chromosome 22,...

article

GnRH-II mRNA expression in tumor tissue and peripheral blood mononuclear cells (PBMCs) in patients with malignant and benign ovarian tumors

Ibrahim Serdar Serin, Fatih Tanriverdi, Ceren Dincer Ata, Hilal Akalin, more

European Journal of Obstetrics and Gynecology > 2010 > 149 > 1 > 92-96

To investigate the expression of the second form of GnRH (GnRH-II) in tumor tissue and peripheral blood mononuclear cells (PBMCs) in malignant and benign ovarian tumors in humans.Sixty-six women were studied: 24 with epithelial ovarian carcinomas, 22 with benign ovarian tumors and 20 in the control group undergoing surgery. Malignant, benign and normal ovarian tissue and PBMCs were obtained for measurement...

article

Lack of association between the Glu298Asp polymorphism of endothelial nitric oxide synthase and slow coronary flow in the Turkish population

Ahmet Okay Caglayan, Nihat Kalay, Cetin Saatci, Arif Yalcın, more

Canadian Journal of Cardiology > 2009 > 25 > 3 > e69-e72

Coronary endothelial dysfunction plays an important pathogenetic role in patients with slow coronary flow (SCF). No data exist regarding the possible contribution of the Glu298Asp polymorphism genotype of the endothelial nitric oxide synthase (eNOS) gene to human SCF in the literature.To investigate the association between SCF and the Glu298Asp polymorphism of the eNOS gene.The study population consisted...

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