Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/796
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dc.contributor.authorTerzi, Yunus Kasım-
dc.contributor.authorBalcı, Sibel Oğuzkan-
dc.contributor.authorAnlar, Banu-
dc.contributor.authorVaran, Ali-
dc.contributor.authorEvans, Sibel Ersoy-
dc.contributor.authorSharafi, Parisa-
dc.contributor.authorAyter, Şükriye-
dc.date.accessioned2019-03-21T07:45:56Z
dc.date.available2019-03-21T07:45:56Z
dc.date.issued2018-02
dc.identifier.citationTerzi, Y. K., Oğuzkan-Balcı, S., Anlar, B., Varan, A., Ersoy-Evans, S., Sharafi, P., & Ayter, Ş. (2018). Clinical findings and mutation analysis of NF1 patients in Turkey. Meta Gene, 15, 80-83.en_US
dc.identifier.urihttps://linkinghub.elsevier.com/retrieve/pii/S2214540017300956-
dc.identifier.urihttps://hdl.handle.net/20.500.11851/796-
dc.description.abstractNeurofibromatosis type 1 (NF1) is an autosomal dominant disease that is caused by mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The mutation rate of NF1 is one of the highest known for human disorders: approximately 50% of all affected individuals are sporadic cases and carry de novo mutations Therefore mutation analysis of NF1 may be an important tool in early diagnosis and genetic counseling. This is the first large NF1 study performed in Turkey. The data collected in this study enabled us to overview the genetic and clinical aspects of NF1 molecular diagnostics. The patients, who were clinically diagnosed for NF1, were included in this study. These patients were clinically evaluated, and subgroup of them genotyped or DNA sequenced for mutations in NF1, either to confirm the clinical diagnosis or to identify pathogenic mutations. The mutation detection rate was 52%, based on analysis of only genomic DNA. We observed that frameshift mutations were the largest proportion of the identified mutations (38.5%). The frequency of microdeletions was 26.9% and the splice site and nonsense mutations were 11.5% in this cohort. Turkish NF1 patients have similar NF1 germline mutations compared to other populations. Considering that some of these detected mutations belonged to the patients who did not fulfill the NIH criteria for NF1 diagnosis, mutation analysis of NF1 is an important tool in early diagnosis and genetic counseling.en_US
dc.description.sponsorshipHacettepe University Scientific Research and Development Office [H.U.BAB. 010 T02 102]
dc.language.isoenen_US
dc.publisherElsevier B.V.en_US
dc.relation.ispartofMeta Geneen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectNeurofibromatosis type 1en_US
dc.subjectMutationsen_US
dc.subjectGenotype-phenotype relationen_US
dc.subjectTurkeyen_US
dc.subjectPlexiform neurofibromaen_US
dc.subjectNeurofibromatosis 1en_US
dc.subjectNeurofibromin 1en_US
dc.titleClinical Findings and Mutation Analysis of Nf1 Patients in Turkeyen_US
dc.typeArticleen_US
dc.departmentFaculties, School of Medicine, Department of Basic Medical Sciencesen_US
dc.departmentFakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümütr_TR
dc.identifier.volume15en_US
dc.identifier.startpage80en_US
dc.identifier.endpage83en_US
dc.authorid0000-0002-7400-4851-
dc.authorid0000-0003-1552-8804-
dc.identifier.wosWOS:000419720600015en_US
dc.identifier.scopus2-s2.0-85038925361en_US
dc.institutionauthorSharafi, Parisa-
dc.institutionauthorAyter, Şükriye-
dc.identifier.doi10.1016/j.mgene.2017.12.003-
dc.identifier.doi10.1016/j.mgene.2017.12.003-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
item.openairetypeArticle-
item.languageiso639-1en-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
crisitem.author.dept03.14. Department of Internal Medicine-
crisitem.author.dept03. School of Medicine-
Appears in Collections:Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Temel Tıp Bilimleri Bölümü / Department of Basic Medical Sciences
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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