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dc.contributor.authorErsoy-Evans, Sibel
dc.contributor.authorSharafi, Parisa
dc.contributor.authorAnlar, Banu
dc.contributor.authorVaran, Ali
dc.contributor.authorYılmaz, Ömer Faruk
dc.contributor.authorTuran, Mustafa
dc.contributor.authorAyter, Şükriye
dc.date.accessioned2019-03-21T06:56:58Z
dc.date.available2019-03-21T06:56:58Z
dc.date.issued2018-07-01
dc.identifier.citationSharafi, P., Anlar, B., Ersoy-Evans, S., Varan, A., Yılmaz, O. F., Turan, M., & Ayter, S. (2018). The effect of parental age on NF1 patients in Turkey. Journal of community genetics, 9(3), 227-232.en_US
dc.identifier.issn1868310X
dc.identifier.issn1868310X
dc.identifier.urihttps://link.springer.com/article/10.1007%2Fs12687-017-0346-0
dc.identifier.urihttp://hdl.handle.net/20.500.11851/793
dc.description.abstractNeurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family history of the disease and usually result from a new mutation in the germline of a parent. Advanced paternal age may increase the risk for germinal NF1 mutations; however, some dominant conditions, including neurofibromatosis, have shown a lesser association with paternal age, although there are conflicting reports in the literature. We investigated the effects of paternal and maternal age in 241 NF1 patients (121 sporadic and 120 familial cases) who were seen in Hacettepe hospital, a reference center for genetic diseases in Turkey. For statistical analysis, Spearman’s and Chi-square tests were used. In this study, we evaluated paternal and maternal age at birth in sporadic and familial cases of NF1. We also compared the effect of parental age on the appearance and coexistence of various NF1 symptoms. There were no significant statistical differences between paternal age and coexistence of the NF1 symptoms. However, a slightly negative correlation was observed between paternal age and the coexistence of NF1 symptoms in familial cases (p < 0.05). We did not find strong evidence for the effect of parental age on the clinical severity of NF1.en_US
dc.language.isoengen_US
dc.publisherSpringer Verlagen_US
dc.relation.isversionof10.1007/s12687-017-0346-0en_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectNeurofibromatosis type 1en_US
dc.subjectAdvanced paternal ageen_US
dc.subjectAdvanced maternal ageen_US
dc.subjectSpontaneous mutationsen_US
dc.titleThe effect of parental age on NF1 patients in Turkeyen_US
dc.typearticleen_US
dc.relation.journalJournal of Community Genetics
dc.contributor.departmentTOBB ETÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.contributor.departmentTOBB ETU, Faculty of Medicine, Department of Basic Medical Sciencesen_US
dc.identifier.volume9en_US
dc.identifier.issue3en_US
dc.identifier.startpage227en_US
dc.identifier.endpage232en_US
dc.contributor.orcidParisa Sharafi [0000-0002-7400-4851]
dc.identifier.wosWOS:000435437400005
dc.identifier.scopus2-s2.0-85034096433
dc.contributor.tobbetuauthorSharafi, Parisa
dc.contributor.tobbetuauthorAyter, Şükriyeen_US
dc.identifier.PubMedIDPMID:29143198
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı


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