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dc.contributor.authorMane, Shrikant M.
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorBayrakli, Sengul
dc.contributor.authorState, Matthew W.
dc.contributor.authorGunel, Murat
dc.contributor.authorBayrakli, Fatih
dc.contributor.authorGuney, Ilter
dc.contributor.authorBayri, Yasar
dc.contributor.authorErcan-Sencicek, Adife Gulhan
dc.contributor.authorCeyhan, Dogan
dc.contributor.authorCankaya, Tufan
dc.contributor.authorMason, Christopher
dc.date.accessioned2021-03-02T21:12:04Z
dc.date.available2021-03-02T21:12:04Z
dc.date.issued2009
dc.identifier.citationBayrakli F., Guney I., Bayri Y., Ercan-Sencicek A. G. , Ceyhan D., Cankaya T., Mason C., Bilguvar K., Bayrakli S., Mane S. M. , et al., "A novel heterozygous deletion within the 3 ' region of the PAX6 gene causing isolated aniridia in a large family group", JOURNAL OF CLINICAL NEUROSCIENCE, cilt.16, sa.12, ss.1610-1614, 2009
dc.identifier.issn0967-5868
dc.identifier.othervv_1032021
dc.identifier.otherav_05b98921-ca3a-4c84-95c0-e59a26d053c7
dc.identifier.urihttp://hdl.handle.net/20.500.12627/9717
dc.identifier.urihttps://doi.org/10.1016/j.jocn.2009.03.022
dc.description.abstractPaired box gene 6 (PAX6) is the causative gene of aniridia. it is a dominantly inherited eye abnormality characterized by partial or complete absence of the iris. The PAX6 gene is located on chromosome 11 p13 and contains 14 exons. It is expressed mainly in the developing eye and central nervous system. Submicroscopic copy number variations are common in the human genome. Submicroscopic deletions may cause several human diseases, either by disrupting coding sequences or by eliminating regulatory elements essential for expression of the gene in question. Over the past several years, array-based comparative genomic hybridization has become an increasingly useful too] for both identifying normal cytogenetic variations and characterizing chromosomal abnormalities associated with developmental delays and cancer. Our results support the notion that assessing copy number variation of the PAX6 gene itself and also of flanking regions, may contribute to the molecular diagnosis of aniridia. (C) 2009 Elsevier Ltd. All rights reserved.
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectSinirbilim ve Davranış
dc.subjectNEUROSCIENCES
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleA novel heterozygous deletion within the 3 ' region of the PAX6 gene causing isolated aniridia in a large family group
dc.typeMakale
dc.relation.journalJOURNAL OF CLINICAL NEUROSCIENCE
dc.contributor.departmentVan Training & Research Hospital , ,
dc.identifier.volume16
dc.identifier.issue12
dc.identifier.startpage1610
dc.identifier.endpage1614
dc.contributor.firstauthorID194298


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