The relationship between congenital heart defects and e-nos gene in down syndrome

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dc.authorid0000-0002-2621-1397
dc.contributor.authorOkur, Mesut
dc.contributor.authorEröz, Recep
dc.contributor.authorBektaş, Mehmet Selçuk
dc.contributor.authorGülşen, Süleyman
dc.contributor.authorBahadır, Anzel
dc.contributor.authorTürker, Yasin
dc.contributor.authorGüneş, Cemalettin
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T19:56:05Z
dc.date.available10.07.201910:49:13
dc.date.available2019-07-10T19:56:05Z
dc.date.issued2016
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.descriptionWOS: 000395220700001
dc.descriptionPubMed ID: 30204958
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.
dc.identifier.citationOkur, M., Eröz, R., Bektaş, M. S., Gülşen, S., Bahadır, A., Türker, Y. ... Güneş, C. (2016). The relationship between congenital heart defects and e-nos gene in down syndrome. Genetic Counseling, 27(3), 285-293.
dc.identifier.endpage293
dc.identifier.issn1015-8146
dc.identifier.issue3
dc.identifier.scopusqualityQ3
dc.identifier.startpage285
dc.identifier.urihttps://hdl.handle.net/20.500.12511/2563
dc.identifier.volume27
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherMedecine Et Hygiene
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectEnos
dc.subjectDown Syndrome
dc.subjectTrisomy 21
dc.subjectCongenital Heart Defects
dc.titleThe relationship between congenital heart defects and e-nos gene in down syndrome
dc.typeArticle

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