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BAYRAKLI, FATİH

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BAYRAKLI

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FATİH

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End date: 2009 × Subject: MUTATIONS ×

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    Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts
    (WILEY-LISS, 2007) BAYRAKLI, FATİH; Guzel, Aslan; Tatli, Mehmet; Bilguvar, Kaya; DiLuna, Michael L.; Bakkaloglu, Betul; Ozturk, Ali K.; Bayrakli, Fatih; Gunel, Murat
    We report on an apparently new syndrome in a consanguineous family with seven members, three of whom have cerebral anomalies including pachygyria and arachnoid cysts along with mental retardation and seizures. The two patients with seizure disorders also had multiple enlarged perivascular spaces seen in the white matter of the centrum semiovale. Our data provide a contribution to the acacumulating knowledge on familial cerebral anomalies including arachnoid cysts and lissencephaly. Given the lack of mutation in known lissencephaly genes such as LIS1, 14-3-3 epsilon, and DCX, this syndrome may constitute a new phenotype with autosomal recessive inheritance.(c) 2007 Wiley-Liss, Inc.
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    A novel heterozygous deletion within the 3 ' region of the PAX6 gene causing isolated aniridia in a large family group
    (ELSEVIER SCI LTD, 2009) BAYRAKLI, FATİH; Bayrakli, Fatih; Guney, Ilter; Bayri, Yasar; Ercan-Sencicek, Adife Gulhan; Ceyhan, Dogan; Cankaya, Tufan; Mason, Christopher; Bilguvar, Kaya; Bayrakli, Sengul; Mane, Shrikant M.; State, Matthew W.; Gunel, Murat
    Paired 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.