THE RELATIONSHIP BETWEEN CONGENITAL HEART DEFECTS AND e-NOS GENE IN DOWN SYNDROME

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dc.contributor.authorOkur, Mesut
dc.contributor.authorEröz, Recep
dc.contributor.authorBektaş, Mehmet Selçuk
dc.contributor.authorGülşen, Süleyman
dc.contributor.authorBahadır, Anzel
dc.contributor.authorTürker, Y.
dc.contributor.authorGüneş, Cemalettin
dc.date.accessioned2020-04-30T23:34:13Z
dc.date.available2020-04-30T23:34:13Z
dc.date.issued2016
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionWOS: 000395220700001en_US
dc.descriptionPubMed: 30204958en_US
dc.description.abstractThe relationship between congenital heart defects and e-NOS gene in Down syndrome: The aim of the study was to compare the effects of three eNOS gene polymorphisms associated with congenital heart defects, between Down syndrome patients with and without cardiac anomalies. Transthoracic echocardiographic examinations and eNOS single-nucleotide polymorphis ms were investigated on seventy-five patients, prospectively. The frequencies of mutant alleles in the eNOS promoter (the -786T/C polymorphism) and exon 7 mutant alleles (the 894G -> T polymorphism) were significantly higher in Down syndrome patients with and without cardiac anomalies. The frequency of the intron G10T polymorphism did not significantly differ between patients with and without cardiac anomalies. We found a significant relationship between eNOS gene polymorphisms and the congenital heart defects in patients with Down syndrome. Screening for the presence or absence of eNOS polymorphisms may be useful to obtain preliminary data on the risk of congenital heart defects in patients with Down syndrome.en_US
dc.identifier.endpage293en_US
dc.identifier.issn1015-8146
dc.identifier.issue3en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage285en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12684/5124
dc.identifier.volume27en_US
dc.identifier.wosWOS:000395220700001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjecteNOSen_US
dc.subjectDown syndromeen_US
dc.subjectTrisomy 21en_US
dc.subjectCongenital heart defectsen_US
dc.titleTHE RELATIONSHIP BETWEEN CONGENITAL HEART DEFECTS AND e-NOS GENE IN DOWN SYNDROMEen_US
dc.typeArticleen_US

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